Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... |
OMIM:611228 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas, Gait disturbance, Insulin res... |
ORPHA:2398 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v... |
ORPHA:206594 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased nerve conduction velocity, Segmental peripheral demyelination/r... |
ORPHA:2932 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Null Syndrome |
|
Ataxia, Inability to walk, Demyelinating peripheral neuropathy, Decreased nerve conduction veloci... |
ORPHA:280234 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination |
OMIM:162600 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Ataxia, Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, On... |
OMIM:601098 |
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Demyelinating motor neuropathy, Lower limb pain, Demyelinating sensory neuropathy, Progressive ga... |
ORPHA:208981 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:118210 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:608236 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Axonal d... |
OMIM:214400 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Decreas... |
OMIM:605285 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... |
OMIM:617959 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:614895 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:607734 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
ORPHA:363400 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation, Difficulty walking, Steppage gait |
OMIM:618279 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Decr... |
OMIM:609311 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:180800 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Difficulty walking, Decreased motor nerve conduction velocity, Axonal regeneration, Decreased sen... |
OMIM:608323 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Decreased nu... |
OMIM:118200 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, Ataxia, Peripheral demyelination, CNS demyelination |
OMIM:165200 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Infertility, Hyperinsulinemia, Lipoatrophy, Loss of gluteal ... |
ORPHA:280356 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Gait disturbance, Decreased nerve conduction velocity, Peripheral demyelination |
ORPHA:99944 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, St... |
OMIM:610100 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amen... |
OMIM:612526 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Flexion contracture, Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral ... |
OMIM:607706 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:118220 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Inability to walk, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Demyeli... |
ORPHA:99939 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Lipoatrophy, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance,... |
ORPHA:79084 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Decre... |
OMIM:605588 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Peripheral hypomyel... |
OMIM:605253 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Segmental peripheral demy... |
OMIM:606483 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Decreased number of periphe... |
OMIM:600882 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Axonal regeneration, Steppage gait |
OMIM:615185 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Flexion contracture, Onio... |
OMIM:609260 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation, Steppage gait |
OMIM:616039 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, From... |
OMIM:162500 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Broad-based gait, Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental periphe... |
OMIM:145900 |
Charcot-Marie-Tooth Disease Type 4G |
|
Gait imbalance, Loss of ambulation, Motor conduction block, Demyelinating peripheral neuropathy, ... |
ORPHA:99953 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination, Inability to walk |
ORPHA:431329 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity, Steppage gait |
OMIM:607678 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Decreased serum leptin, Lipodystrophy, Increased intraabdominal fat... |
ORPHA:79085 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Oligomenorrhea, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin resistan... |
OMIM:613877 |
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy |
|
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Diff... |
OMIM:618912 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Steppage gait |
OMIM:302801 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Abnormal a... |
OMIM:601382 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... |
OMIM:608673 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Charcot-Marie-Tooth Disease Type 1A |
|
Gait imbalance, Demyelinating peripheral neuropathy, Decreased sensory nerve conduction velocity,... |
ORPHA:101081 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601455 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c... |
DECIPHER:29 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:604563 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Congenital Generalized Lipodystrophy |
|
Hypertrichosis, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Clitoral hypertrophy, Polycystic o... |
ORPHA:528 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Leukodystrophy, Abnormal autonomic nervous system physiology, Peripheral demyelination |
DECIPHER:59 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Vestibular schwannoma, Decreased compound muscle action potential amplitude, Steppage gait |
OMIM:613641 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Cirrhosis, Loss... |
OMIM:604367 |
Neuronopathy, Distal Hereditary Motor, Type Vc |
|
Difficulty walking, Decreased compound muscle action potential amplitude |
OMIM:619112 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Inability to walk, Onion bulb formation, Decreased motor nerve conduction veloci... |
OMIM:618184 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Gait ataxia, Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination |
OMIM:249900 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... |
ORPHA:435660 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Abnormal peripheral action potential amplitude, EEG abnormality, Decreased nerve conduction veloc... |
ORPHA:457205 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... |
OMIM:606482 |
Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Difficulty walking, Peripheral axonal neuropathy, Lowe... |
OMIM:600361 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... |
OMIM:608340 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... |
OMIM:232700 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Steppag... |
OMIM:607677 |
Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Dysdiadochokinesis, Optic atrophy, Optic disc pallor, Choreo... |
ORPHA:98890 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity |
OMIM:612577 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Steppage gait |
OMIM:607731 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Difficulty walking, Decreased nerve conduction velocity, Steppage gait |
ORPHA:352675 |
Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... |
ORPHA:99948 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Type II diabetes mellitus, Premature coronary artery atherosclerosis, Increased LDL ... |
OMIM:615703 |
Neuronopathy, Distal Hereditary Motor, Type Vb |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
Macular Degeneration, Age-Related, 3 |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Joint hypermobility |
OMIM:608895 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... |
OMIM:608600 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Gait distu... |
OMIM:311070 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... |
OMIM:610717 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... |
ORPHA:90103 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Gait disturbance, Onion bulb formation, Decreased nerve conduction velocity |
OMIM:615284 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gliosis, Hyperlipidemia, Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, D... |
OMIM:604484 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Onion bulb formation, Unsteady gait, Acute demyelinating polyneuropathy |
ORPHA:98916 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Ataxia, Joint hyperflexibility, Decreased nerve conduction velocity |
ORPHA:1188 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Ataxia, Decreased nerve conduction velocity |
ORPHA:101078 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Irregular menstruation, Decreased serum leptin, Lipodystroph... |
OMIM:615238 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity |
OMIM:605589 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Broad-based gait, Joint contracture of the hand, Optic atrophy, Gait ataxia, Peripheral demyelina... |
OMIM:258650 |
Rft1-Cdg |
|
Failure to thrive, Ataxia, Cerebral cortical atrophy, Hepatomegaly, Cerebral atrophy, Arthrogrypo... |
ORPHA:244310 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Lipoatrophy, Hepatic steatosis |
ORPHA:79087 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Tip-toe gait, EEG with gen... |
ORPHA:2386 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... |
OMIM:616040 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Decreased motor nerve conduction velocity, Difficulty walking |
OMIM:615575 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Neuronal loss in central nervous system, Hepatomegaly, Cerebral atrophy, Myoclonus, Abnor... |
OMIM:615924 |
Leukodystrophy, Hypomyelinating, 18 |
|
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Flexion contracture, Dy... |
OMIM:618404 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Chronic axonal neuropathy, Loss of ambulation, Flexion contracture, Decreased number of small per... |
ORPHA:101097 |
Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Primary amenorrhea, Secondary amenorrhea, Hyperuricemia, Polycystic o... |
ORPHA:79083 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... |
ORPHA:181393 |
Spinocerebellar Ataxia Type 43 |
|
Decreased number of large peripheral myelinated nerve fibers, Progressive cerebellar ataxia, Limb... |
ORPHA:497764 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Demyelinating peripheral neuropathy, Decreased motor nerve conduction velocity... |
ORPHA:101077 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Generalized hirsutism, Lipoatrophy, Pancreatitis, Dysmenorrhea, Cellulitis, Hepatomegaly, Splenom... |
ORPHA:2348 |
Cidec-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Oligomenorrhea, Decrease... |
ORPHA:435651 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Ataxia, Abnormal nerve conduction velocity |
ORPHA:101075 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal d... |
OMIM:614436 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Decreased nerve conduction velocity |
OMIM:183050 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Gait imbalance, Broad-based gait, Decreased nerve conduction velocity, Tip-toe gait, Limited knee... |
ORPHA:435387 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of large peripheral myelinated nerve fibers, Inability to walk, Axonal degenerat... |
ORPHA:98856 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Gait disturbance, Ataxia, Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity |
ORPHA:640 |
Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Decreased nerve conduction velocity |
ORPHA:1368 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Hyperlipidemia, Hepatomegaly, Abdominal distention, Increased hepatic glycogen... |
ORPHA:369 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Steppage gait |
OMIM:606595 |
Temple Syndrome |
|
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Feeding dif... |
OMIM:616222 |
Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Abnormal peripheral myelination |
OMIM:147530 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Loss of ambulation, Decreased number of large peripheral myelinated nerve fibers, Limb at... |
OMIM:208920 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Difficulty walking, Peripheral demyelination, Axonal loss |
OMIM:616684 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Flexion contracture, Hypertriglyceridemia, Lipodystrophy, Elevated hepatic transami... |
OMIM:615381 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... |
ORPHA:399808 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Polycystic ov... |
OMIM:151660 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity, Steppage gait |
OMIM:302802 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Orthostatic hypotension, Decreased nerve conduction velocity, Abnormal autonomic nervous system p... |
OMIM:252320 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... |
OMIM:615980 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Abnormal motor nerve conduction velocity, Unsteady gait |
ORPHA:139536 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy |
OMIM:182815 |
Mandibuloacral Dysplasia |
|
Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Spa... |
ORPHA:2457 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Peripheral dysmyelination |
ORPHA:101082 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity |
ORPHA:868 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Accelerated atherosclerosis, Lip... |
ORPHA:280365 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
EEG abnormality, Pathologic fracture, Gait disturbance, Abnormal upper motor neuron morphology, P... |
OMIM:221770 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Flexion contracture, Babinski sign, Tremor, Spasticity |
OMIM:611105 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Onion bulb formation, Peripheral axonal neuropathy, Optic atrophy, Difficulty walking, Steppage gait |
OMIM:615035 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Elbow flexion contracture, Decreased nerve conduction velocity, Axonal degeneration |
OMIM:618138 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:250850 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity, Delayed puberty |
ORPHA:140941 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Gait disturbance, Abnormality of peripheral nerve conduction, Difficulty walking |
ORPHA:101001 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Gait disturbance, Camptodactyly of finger, Decreased nerve conduction velocity |
ORPHA:2928 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Dysmetria, Axonal degeneration, Tip-toe gait, Onion bulb formation, Decreased motor nerve conduct... |
OMIM:302800 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... |
OMIM:610947 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Axonal degeneration/regeneration, Peripheral demyelination, Steppage gait |
OMIM:607736 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal autonomic nervous system physiology, Decreased motor nerve conduction velocity, Sensory ... |
ORPHA:139578 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia, Premature o... |
OMIM:615889 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Elevate... |
ORPHA:90117 |
Roussy-Lévy Syndrome |
|
Limb ataxia, Decreased motor nerve conduction velocity, Difficulty walking, Gait ataxia, Unsteady... |
ORPHA:3115 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:613287 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration |
OMIM:607791 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Abnormal enzyme/coenzyme activity, Feeding dif... |
ORPHA:79237 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607831 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Steatorrhea, Hepatic failure, Diarrhea, Elevated circulating aspartate aminotransfe... |
OMIM:278000 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells |
ORPHA:65684 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hirsutism, Hyperinsulinemia, Hepatomegaly, Constipation, Flexion contracture, ... |
OMIM:613327 |
Parkinsonism With Polyneuropathy |
|
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Decr... |
OMIM:619279 |
Charcot-Marie-Tooth Disease Type 4D |
|
Inability to walk, Demyelinating peripheral neuropathy, Decreased motor nerve conduction velocity... |
ORPHA:99950 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Flexion contracture, Steppage gait, Facial palsy |
OMIM:607684 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Broad-based gait, Ataxia, Flexion contracture of finger, Decreased sensory nerve conduction veloc... |
OMIM:609033 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Babinski sign, Spastic paraplegia, Tremor, Diffuse cerebral atrophy, Gait disturbance |
OMIM:300660 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Cerebral cortical atrophy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling... |
ORPHA:306692 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Increased LDL cholesterol concentration, Decreased acid sphingomyelinase activity, ... |
OMIM:607616 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Leukodystrophy, Choreoathetosis, Decreased nerve conduction velocity |
OMIM:614932 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased antimullerian hormone level, Male infertility, Inguinal hernia |
OMIM:261550 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
Leukodystrophy, Hypomyelinating, 24 |
|
Leukodystrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Flexion ... |
OMIM:619851 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Ataxia, Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve conduction velocit... |
OMIM:604168 |
Krabbe Disease |
|
EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, CNS demyelination, Periphera... |
OMIM:245200 |
Behr Syndrome |
|
Hamstring contractures, Ataxia, Dysmetria, Babinski sign, Adductor longus contractures, Progressi... |
OMIM:210000 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Knee pain, Abnormal motor nerve conduction velocity, Spastic gait |
ORPHA:100998 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Multiple joint contractures, Loss of ambulation, Bradykinesia, Cerebral a... |
ORPHA:521406 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Steppage gait |
OMIM:118300 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Optic atrophy, Gait disturbance, Ataxia, Abnormal nerve conduction velocity |
ORPHA:99014 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, Ob... |
ORPHA:399805 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
Ataxia-Pancytopenia Syndrome |
|
Ataxia, Dysmetria, Decreased nerve conduction velocity, Unsteady gait |
OMIM:159550 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Gait disturbance, Inability to walk, Abnormal sensory nerve conduction velocity |
ORPHA:276435 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Decreased sensory nerve con... |
OMIM:270550 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperlipidemia, Hyperinsulinemia, Sparse hair, Brittle hair, Alopecia, Flexi... |
OMIM:608612 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Yuan-Harel-Lupski Syndrome |
|
Broad-based gait, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Gait ... |
OMIM:616652 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Ataxia, Decreased nerve conduction velocity, Dysmetria, Hyperextensibility of the finger joints, ... |
OMIM:618356 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... |
OMIM:614561 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Adrenal calcification, Diarrhea, Hypertri... |
ORPHA:75234 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Dysmetria, Opti... |
OMIM:612674 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Pancreatitis, Lipoatrophy, Splenomegaly, Cirrhosis, Lipodystrophy, Men... |
ORPHA:90970 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Foot acroosteol... |
OMIM:201300 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Gait disturbance, Decreased distal sensory nerve action potential, Peripheral axonal neuropathy |
OMIM:618400 |
Acquired Generalized Lipodystrophy |
|
Generalized hirsutism, Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, ... |
ORPHA:79086 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Clitoral hype... |
OMIM:608594 |
Ddost-Cdg |
|
Failure to thrive, Oromotor apraxia, Elevated hepatic transaminase, Lipodystrophy, Tremor, Primar... |
ORPHA:300536 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Osteomye... |
OMIM:162400 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic fibrosis... |
OMIM:614480 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Clitoral hype... |
OMIM:269700 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Frequent falls, Tremor, Cerebellar atrophy, Unsteady gait |
OMIM:615945 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency |
OMIM:614278 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Sparse scalp hair, Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck,... |
OMIM:248370 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Sparse hair, Orthostatic hypotension, Babinski sign, Diarrhe... |
OMIM:606721 |
Neuronal Intranuclear Inclusion Disease |
|
Gait disturbance, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction v... |
OMIM:603472 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... |
OMIM:617872 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Acromicric Dysplasia |
|
Joint stiffness, Delayed skeletal maturation, Decreased nerve conduction velocity |
ORPHA:969 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Diarrhea, Vomiting, Cholestasis, Hepatocellular adenoma, Polycystic ovaries, Portal... |
ORPHA:370 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Gait... |
OMIM:616516 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Hepatomegaly, Splenomegaly, Hepatic failure, Frequent falls, Tremor, Gait ataxia, Hepatic... |
OMIM:616719 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Loss of ambulation, Flexion contracture, Decreased compound muscle action potential amplitude, Wa... |
OMIM:603511 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Diarrhea, Vomiting, Cholestasis, Hepatocellular adenoma, Polycystic ovaries, Increa... |
ORPHA:264580 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Alstrom Syndrome |
|
Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Decreased response to growth hormone st... |
OMIM:203800 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait, Hypo... |
OMIM:615768 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Small intestinal dysmotility, Diarrhea, Vomiting, Weight loss, Ga... |
ORPHA:298 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... |
ORPHA:436182 |
Donohue Syndrome |
|
Nail dysplasia, Postprandial hyperglycemia, Hypertrichosis, Precocious puberty, Hyperinsulinemia,... |
OMIM:246200 |
Leukodystrophy, Hypomyelinating, 5 |
|
Loss of ambulation, Leukodystrophy, Decreased motor nerve conduction velocity, Onion bulb formati... |
OMIM:610532 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia, Cerebellar atrophy |
ORPHA:423296 |
Multifocal Motor Neuropathy |
|
Motor conduction block, Limited wrist extension |
ORPHA:641 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... |
ORPHA:247585 |
Wild Type Abeta2M Amyloidosis |
|
Decreased amplitude of sensory action potentials, Arthritis, Decreased nerve conduction velocity,... |
ORPHA:85446 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hand tremor, Abnormal C-peptide level, ... |
ORPHA:79299 |
Leukodystrophy, Hypomyelinating, 2 |
|
Ataxia, Demyelinating motor neuropathy, Leukodystrophy, Decreased motor nerve conduction velocity... |
OMIM:608804 |
Hemochromatosis, Type 4 |
|
Glucose intolerance, Impotence, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mel... |
OMIM:606069 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Broad-based gait, Inability to walk, Axonal degeneration, Tracheomalacia, Peripheral axonal neuro... |
OMIM:615490 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Gait ataxia, Limb ataxia, Abnormal nerve conduction velocity |
OMIM:619862 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Small for ge... |
ORPHA:324575 |
Celiac Disease, Susceptibility To, 1 |
|
Infertility, Ataxia, Hypocalcemia, Failure to thrive, Abdominal distention, Abdominal pain, Alope... |
OMIM:212750 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Upper limb pain, Abnormality of peripheral nerve conduction, Lower limb pain |
ORPHA:101005 |
Hyperlipoproteinemia, Type Iv |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitar... |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitar... |
OMIM:145750 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Decreased number of large peripheral myelinated nerve fibers... |
ORPHA:101085 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Decreased motor nerve conduction velocity |
OMIM:605726 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... |
OMIM:306000 |
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
Decreased motor nerve conduction velocity, CNS hypomyelination, Cerebral hypomyelination, Facial ... |
OMIM:601170 |
H Syndrome |
|
Amenorrhea, Abnormal eyebrow morphology, Hypertrichosis, Alopecia, Micropenis, Hepatosplenomegaly... |
ORPHA:168569 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Diarrhea, Vomiting, Hepatocellular adenoma, Polycystic ovaries, Increased body weig... |
ORPHA:79240 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure |
OMIM:261650 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Elevated circulating alkaline ph... |
ORPHA:2088 |
Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... |
ORPHA:363710 |
Adult Krabbe Disease |
|
Broad-based gait, Ataxia, EEG abnormality, Gait disturbance, CNS demyelination, Prolonged brainst... |
ORPHA:206448 |
Cimdag Syndrome |
|
Cholelithiasis, Ataxia, Microvesicular hepatic steatosis, Hepatomegaly, Cerebral atrophy, Pontoce... |
OMIM:619273 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Type IV atherosclerotic lesion, Increased LDL cholesterol concentration, Hy... |
OMIM:144300 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity, Cerebellar atrophy |
ORPHA:217012 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Peripheral demyelination, Axonal loss |
OMIM:617672 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Delayed myelination, Decreased nerve conduction velocity, Choreoathetosis, Ankle... |
ORPHA:319514 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, Peripheral demyelin... |
OMIM:250100 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Cerebral atrophy, Intention tr... |
ORPHA:98762 |
Cog4-Cdg |
|
Ataxia, Elevated circulating alkaline phosphatase concentration, Recurrent infection of the gastr... |
ORPHA:263501 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Small for gestational age, Episodic vomiting, Hypoglycemia, Hypertriglycer... |
OMIM:307030 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination, Hand tremor |
ORPHA:401840 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Low anterior hairline, Hyperinsulinemic hypoglycemia, Primary amenorrhea, Delayed thelarche, Diab... |
OMIM:616033 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Hepatomegaly, Brain atrophy, Left ventricular hypertrophy, Elevated circulatin... |
OMIM:619048 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Ataxia, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentia... |
OMIM:616688 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase co... |
OMIM:619868 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Diffuse panc... |
ORPHA:276575 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Decreased compound muscle action potential amplitude, Wrist flexion contracture |
OMIM:619519 |
Smith-Magenis Syndrome |
|
Motor stereotypy, Abnormality of the thyroid gland, Constipation, Hypertriglyceridemia, Synophrys... |
OMIM:182290 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... |
ORPHA:98855 |
3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, Hepatomegaly, Progressive cerebellar ataxia, Hypoglycemia, Spastic tetraparesi... |
ORPHA:67046 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:179494 |
Classic Galactosemia |
|
Gait imbalance, Ataxia, Hepatomegaly, Hepatic failure, Primary amenorrhea, Secondary amenorrhea, ... |
ORPHA:79239 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... |
ORPHA:98853 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Ataxia, Loss of ambulation, Decreased nerve condu... |
ORPHA:206443 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... |
OMIM:617862 |
Abetalipoproteinemia |
|
Ataxia, Peripheral demyelination, CNS demyelination |
OMIM:200100 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Truncal ataxia, Chorea, Elevated hepatic transaminase, Difficulty walking, Waddling... |
ORPHA:369840 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, J... |
OMIM:603552 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased amplitude of s... |
OMIM:256840 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Peripher... |
OMIM:602433 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Diffuse panc... |
ORPHA:276580 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Splenomegaly, Inflammation o... |
OMIM:300635 |
Atypical Werner Syndrome |
|
Hyperinsulinemia, Ovarian neoplasm, Alopecia, Glycosuria, Secondary amenorrhea, Abnormality of ci... |
ORPHA:79474 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Spastic gait, Decreased motor nerve conduction velocity |
OMIM:270685 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Elevated circulating alkaline phosphatase concentrati... |
ORPHA:263455 |
Adrenomyeloneuropathy |
|
Female sexual dysfunction, Abnormal circulating fatty-acid concentration, Axonal degeneration, Ba... |
ORPHA:139399 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Hirsutism, Gliosis, Joint contracture of the hand, Flexion contracture, Small ... |
OMIM:214150 |
Spastic Paraplegia 79, Autosomal Recessive |
|
Ataxia, Cerebral atrophy, Dysmetria, Flexion contracture, Intention tremor, Ankle clonus, Babinsk... |
OMIM:615491 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Cerebral atrophy, Spastic paraparesis, Dysmetria, Axonal degeneration, Dysd... |
OMIM:615157 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypothyroidism, Hypertriglyceridemia, Elevated hepatic transaminase, Feeding ... |
OMIM:619013 |
Inflammatory Pseudotumor Of The Liver |
|
Abnormal liver sonography, Neoplasm of the liver, Abdominal distention, Abdominal pain, Cirrhosis... |
ORPHA:90003 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Diarrhea, Vomiting, Tremor, Ab... |
OMIM:212065 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Facial diplegia, Decreased sensory nerve conduction velocity, Flexion contracture, Onion bulb for... |
OMIM:218000 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased LDL ... |
OMIM:616829 |
Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers, Gait ataxia, Progressive cerebellar... |
ORPHA:101111 |
Combined Saposin Deficiency |
|
Neuronal loss in central nervous system, Hepatomegaly, Splenomegaly, Myoclonus, Babinski sign, Hy... |
OMIM:611721 |
Galloway-Mowat Syndrome 5 |
|
Ataxia, Peripheral demyelination |
OMIM:617731 |
Wolman Disease |
|
Adrenal insufficiency, Hepatomegaly, Abdominal distention, Hepatic failure, Steatorrhea, Cachexia... |
ORPHA:75233 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis, Hypogonadism |
OMIM:312910 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Abdominal distention, Diarrhea, Vomiti... |
OMIM:608104 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hypertonia, Ketotic hypoglycemia, Hepatic steatosis, Dystonia |
ORPHA:26792 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypertrichosis, Flexion contracture of finger, Elevated circulating C-reactive protein concentrat... |
OMIM:256040 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Spinocerebellar Ataxia Type 1 |
|
Gait imbalance, Progressive cerebellar ataxia, Dysmetria, Dysdiadochokinesis, Optic atrophy, Gait... |
ORPHA:98755 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Gastroesophageal reflux, Abdominal pain, Abdominal distention, Polycystic liver dis... |
ORPHA:2924 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Pain insensitivity, Cerebellar vermis atrophy, Impaired vibration sensation in the lower ... |
ORPHA:94124 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Alopecia, Insulin resistance, Generalized lipodystrophy, Nail dystrophy, Delayed ... |
ORPHA:90154 |
Galactosemia |
|
Gait imbalance, Ataxia, Hepatomegaly, Hepatic failure, Abnormality of extrapyramidal motor functi... |
ORPHA:352 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Prolonged neonatal jaundice, Hepatomegaly, Increased LDL cholesterol c... |
OMIM:616828 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Tremor, Diffuse cerebral atrophy, Cerebellar atrophy, Abnormali... |
OMIM:615362 |
Smith-Magenis Syndrome |
|
Motor stereotypy, Precocious puberty, Constipation, Gastroesophageal reflux, Gait disturbance, Hy... |
ORPHA:819 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... |
OMIM:617885 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Peripheral demyelination |
OMIM:616733 |
Adiposis Dolorosa |
|
Obesity, Abdominal distention, Painful subcutaneous lipomas, Constipation |
OMIM:103200 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... |
OMIM:617156 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Intention tremor, Myoclonus, Hypocholesterolemia, Hypersplenism, Incr... |
OMIM:610539 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Motor axonal neuropathy, Ataxia, Dysmetria, Camptodactyly of finger, Osteoporosis, Abnormality of... |
ORPHA:48431 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Onion bulb formation, Steppage gait, Axonal loss |
OMIM:614455 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Alopecia universalis, Lipoatrophy, Sparse hair, Absent eyebrow, Aortic atherosclerotic lesion, In... |
ORPHA:363618 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Hepatomegaly, Flexion contracture, Splenomegaly, Hypertriglyceridemia, Lipodys... |
OMIM:617591 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypoplasia of penis, Optic atrophy, Atypical scarrin... |
ORPHA:791 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Cerebral atrophy, Peripheral axonal neuropathy, Distal sensory impairment, Hypoalbuminemi... |
OMIM:607250 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Camptodactyly of finger, Abnormal nerve conduction velocity |
ORPHA:2926 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia, Lipodystrophy, Increased adipose tissue, Insulin resistance, Functional intestina... |
ORPHA:199276 |
Spinocerebellar Ataxia 10 |
|
Progressive cerebellar ataxia, Decreased nerve conduction velocity, Dysmetria, Limb ataxia, Dysdi... |
OMIM:603516 |
Lysosomal Acid Lipase Deficiency |
|
Stroke, Elevated circulating alkaline phosphatase concentration, Steatorrhea, Hepatic failure, Di... |
ORPHA:275761 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy |
OMIM:141500 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
OMIM:616921 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... |
OMIM:619855 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Cerebral atrophy, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:600116 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm... |
OMIM:605814 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
Werner Syndrome |
|
Ovarian neoplasm, Lipodystrophy, Secondary amenorrhea, Abnormal cerebral vascular morphology, Hyp... |
ORPHA:902 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158057 |
Chylomicron Retention Disease |
|
Failure to thrive, Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Elevated hepatic transa... |
ORPHA:71 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Secondary a... |
ORPHA:3085 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Cerebral atrophy, Babinski sign, Parkinsonism, Rigidity, Falls, Gait... |
OMIM:300423 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia, Hypsarrhythmia |
OMIM:618856 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Alopecia, Abnormal libido, Increased body weight, Dorsocervical fat pad, Abnormal subcutaneous fa... |
ORPHA:189439 |
Neuromyelitis Optica Spectrum Disorder |
|
Peripheral demyelination |
ORPHA:71211 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Failure to thrive, Elevated hepatic transaminase, Spasticity, Hepatic s... |
OMIM:617093 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Autonomic erectile dysfunction, Orthostatic hypotension due to autonomic dysfunction, Leu... |
OMIM:169500 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Oromandibular dystonia, Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Neurodegenerat... |
OMIM:615643 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Constipation, Secondary amenorrhea, Hypercholesterolemia, Inappropriately normal thyroid-stimulat... |
OMIM:301033 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait, Cerebellar atrophy |
OMIM:617917 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Decreased nerve conduction velocity, Axonal degeneration, Degeneration of anterior horn cells, Ca... |
OMIM:604320 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Sialidosis Type 1 |
|
Ataxia, EEG abnormality, Decreased nerve conduction velocity, Gait disturbance, Delayed skeletal ... |
ORPHA:812 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Decreased nerve conduction velocity, Orthostatic hypotension, Degeneration of anterior horn cells... |
OMIM:118301 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Ataxia, Micropenis, Hypoglycemia, Hypertriglyceridemia, Hypothyroidism, Hy... |
OMIM:617575 |
Aromatase Deficiency |
|
Generalized hirsutism, Female infertility, Hyperlipidemia, Eunuchoid habitus, Ambiguous genitalia... |
ORPHA:91 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
Cednik Syndrome |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia |
ORPHA:66631 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Spinocerebellar Ataxia 23 |
|
Neuronal loss in central nervous system, Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait atax... |
OMIM:610245 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hypertonia, Hepatomegaly, Babinski sign, Diffuse hepatic steatosis, Elevated hepatic transaminase... |
OMIM:264470 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Axonal degeneration, Arthrogryposis-like hand anomaly, Peripheral axonal neuropathy, Craniofacial... |
OMIM:620011 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Peripheral hypomyelination, Sensory axonal neuropathy, Wrist... |
OMIM:618733 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Hypertri... |
OMIM:613027 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Ataxia, Hepatomegaly, Micronodular cirrhosis, Alopecia, Abnormal circulating creatine kinase conc... |
ORPHA:98907 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Cerebellar atrophy, Myoclonus |
OMIM:616187 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Sparse hair, Dysmetria, Abnormal circulating... |
OMIM:616541 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Dysmyelinating leukodys... |
OMIM:609136 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Atherosclerosis, Hypercholesterol... |
OMIM:603813 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Abdominal distention, Feeding difficulties, Hepatic failure, Cholestasis, Elevated ... |
OMIM:618528 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Failure to thrive, Ataxia, Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure,... |
OMIM:256810 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Elevated gamma-glutamyl... |
OMIM:603471 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Hyperinsulinemi... |
ORPHA:2849 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... |
OMIM:611302 |
Werner Syndrome |
|
Premature arteriosclerosis, Elevated hemoglobin A1c, Elevated circulating aspartate aminotransfer... |
OMIM:277700 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Hyperglycemia |
OMIM:618970 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Hypergonadotropic hypogonadism, Dysdiadochokinesis, Abnormal pyra... |
OMIM:617145 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia, Spasticity |
OMIM:240800 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Flexion contracture of finger, Truncal titubation, Impaired vibration sensation in the lo... |
ORPHA:88628 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Feeding difficulties, Diffuse pancreatic islet hyper... |
ORPHA:276556 |
Lethal Congenital Contracture Syndrome 5 |
|
Congenital contracture, Decreased nerve conduction velocity, Flexion contracture |
OMIM:615368 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... |
ORPHA:216873 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Abdominal pain, Splenomegaly, Cirrhosis, Nausea and vomiting, Multi... |
ORPHA:1414 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... |
OMIM:301045 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Decreased 3-hydroxyacyl-Co... |
ORPHA:71212 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Gait imbalance, Inability to walk, Osteomyelitis, Abnormality of the autonomic nervous system, Li... |
ORPHA:36386 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Clumsiness, Progressive cerebellar ataxia, Increased LDL cholesterol concentration, Dysme... |
OMIM:277460 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... |
OMIM:256450 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Difficulty walking, Decreased nerve conduction velocity, Unsteady ... |
ORPHA:600 |
Wilson Disease |
|
Failure to thrive, Clumsiness, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Abno... |
ORPHA:905 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Decreased nerve conduction velocity |
ORPHA:1933 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Cerebral cortical atrophy, Poor fine motor coordination, Dysmetria, Brain atr... |
ORPHA:79263 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyp... |
OMIM:601820 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Interictal epileptiform activity, Glycosuria, Athetosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... |
OMIM:616000 |
Hypermanganesemia With Dystonia 2 |
|
Inability to walk, Babinski sign, Tremor, Spasticity, Limb dystonia, Limb joint contracture, Achi... |
OMIM:617013 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait |
OMIM:256600 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... |
ORPHA:251282 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hemiplegia, Ataxia, Hypertonia, Failure to thrive, ... |
OMIM:267700 |
Wilson Disease |
|
Parkinsonism with favorable response to dopaminergic medication, Hepatomegaly, Hepatic failure, E... |
OMIM:277900 |
Dysbetalipoproteinemia |
|
Peripheral arterial stenosis, Premature coronary artery atherosclerosis, Hepatomegaly, Increased ... |
ORPHA:412 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hypertrichosis, Hyperinsulinemia, Hepatomegaly, Facial hyper... |
ORPHA:508 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... |
ORPHA:139507 |
Growth Factors, Combined Defect Of |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin-resistant diabetes mellitus, Flexion ... |
OMIM:233805 |
Hyperproinsulinemia |
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Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Cerebrotendinous Xanthomatosis |
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Paraparesis, Cholelithiasis, Ataxia, Gliosis, Premature coronary artery atherosclerosis, Axonal d... |
ORPHA:909 |
Lecithin:Cholesterol Acyltransferase Deficiency |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Foam cells |
OMIM:245900 |
Sitosterolemia 2 |
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Premature coronary artery atherosclerosis, Elevated circulating sitosterol concentration, Hyperch... |
OMIM:618666 |
Diabetes Mellitus, Transient Neonatal, 1 |
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Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Congenital Disorder Of Glycosylation, Type Ib |
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Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic failure, Steatorrhea, Cir... |
OMIM:602579 |
Diaminopentanuria |
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Ataxia, Neurodegeneration, Spasticity |
OMIM:222350 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
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Abnormal motor nerve conduction velocity, Facial palsy, Camptodactyly of finger |
OMIM:614399 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
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Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Thyroid Hemiagenesis |
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Abdominal distention, Constipation, Umbilical hernia, Thyroid agenesis, Jaundice |
ORPHA:95719 |
Squalene Synthase Deficiency |
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Abnormality of hair pigmentation, Constipation, Hypospadias, Optic nerve hypoplasia, Increased ci... |
OMIM:618156 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Ataxia, Peripheral demyelination, CNS demyelination |
OMIM:220111 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
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Abdominal distention, Elevated circulating alkaline phosphatase concentration, Polycystic liver d... |
OMIM:174050 |
Hurler-Scheie Syndrome |
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Limitation of joint mobility, Abnormal nerve conduction velocity |
ORPHA:93476 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
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Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Pancreatitis, Hepatomegaly, Diarrhea, Hepatocellular adenoma, Enlarged kidney, Hyperuricemia, Pol... |
ORPHA:79259 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
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Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
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Ataxia, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Neurodegeneration, Atrophy/De... |
OMIM:612319 |
Lethal Ataxia With Deafness And Optic Atrophy |
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Ataxia, Severe demyelination of the white matter, EEG with focal epileptiform discharges, Decreas... |
ORPHA:1187 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
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