Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Ankle flexion contracture, Decreased nerve conduction ... |
OMIM:611228 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Gait dist... |
ORPHA:2398 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Limitation of movement at ankles, Decreased distal sen... |
ORPHA:206594 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Segmental peripheral demyelination/remyelination, Decreased nerve conduction velocity, Unsteady g... |
ORPHA:2932 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, CNS hypomyelinatio... |
ORPHA:280234 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... |
OMIM:601098 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:614895 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118210 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... |
OMIM:214400 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607734 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Caudate atrophy, Reduced intraabdominal adipos... |
ORPHA:363400 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609311 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Difficulty walking, Decreased sensory nerve conduction... |
OMIM:608323 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:180800 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118200 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Gait disturbance, Peripheral demyelination |
ORPHA:99944 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Steppage gait, Onion bul... |
OMIM:610100 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... |
ORPHA:280356 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno... |
OMIM:605253 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Decreased nerve conduction veloci... |
ORPHA:99939 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118220 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Splenomegaly... |
OMIM:612526 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... |
ORPHA:79084 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... |
OMIM:607706 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:605588 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resista... |
ORPHA:79085 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Claw hand deformity, Decreased number of large periphe... |
OMIM:605285 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Froment sign, Segmental peripheral demyelination/remye... |
OMIM:162500 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Peripheral axonal neuropathy, Steppage gait, Onion bulb formation, Peripheral demyelination, Axon... |
OMIM:620378 |
Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory... |
ORPHA:99953 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:145900 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:615376 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... |
OMIM:608673 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Decreased compound muscle action potential amplitude, Steppage gait, Difficulty walking, Onion bu... |
OMIM:618279 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination |
ORPHA:431329 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Steppage gait, Difficulty walking, Onion bulb f... |
OMIM:606483 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Steppage gait, Claw hand deformity, Chronic axonal neu... |
OMIM:606595 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Decreased nerve conduction velocity, Flexion contracture, Unstead... |
ORPHA:101097 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... |
OMIM:601382 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes mellitus, Oligomenorrh... |
OMIM:613877 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Gait ataxia, Loss of ambulation, CNS demyelination, Peripher... |
OMIM:249900 |
Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Acute demyelinating polyneuropathy, Gait disturbance, ... |
ORPHA:101081 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... |
ORPHA:435660 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Abnormal autonomic nervous system physiology, Leukodystrophy |
DECIPHER:59 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:604563 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... |
DECIPHER:29 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J |
|
Decreased motor nerve conduction velocity, Difficulty walking |
OMIM:620111 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:618184 |
Congenital Generalized Lipodystrophy |
|
Adipose tissue loss, Low anterior hairline, Hepatic steatosis, Hepatomegaly, Insulin resistance, ... |
ORPHA:528 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:600882 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity, Steppage gait |
OMIM:607678 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Hand... |
OMIM:604484 |
Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Difficulty walking, Lowe... |
OMIM:600361 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8 |
|
Decreased motor nerve conduction velocity, Difficulty walking, Decreased amplitude of sensory act... |
OMIM:618912 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Steppage gait, Onion bulb formation |
OMIM:616039 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Foot joint contracture, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, EE... |
ORPHA:457205 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Steppage gait |
OMIM:302801 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... |
OMIM:601596 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... |
OMIM:607684 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... |
ORPHA:98890 |
Charcot-Marie-Tooth Disease Type 4A |
|
Limited interphalangeal movement, Limited wrist movement, Decreased nerve conduction velocity, De... |
ORPHA:99948 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Steppage gait, Vestibular schwannoma |
OMIM:613641 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Decreased nerve conduction velocity, Gait disturbance, Loss of ambulation, Myelin outfoldings, On... |
OMIM:615284 |
Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Joint hypermobility |
OMIM:608895 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Oligo... |
OMIM:615703 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... |
OMIM:610717 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... |
ORPHA:435651 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Onion bulb formation, Optic atrophy, Gait disturbance, Segmental peripheral demyelination/remyeli... |
OMIM:311070 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Irregular menst... |
OMIM:615238 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Acute demyelinating polyneuropathy, Unsteady gait, Onion bulb formation, Gait ataxia |
ORPHA:98916 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... |
OMIM:605726 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Tip-toe gait, Unsteady gait, EEG with gen... |
ORPHA:2386 |
Rft1-Cdg |
|
Hepatomegaly, Ataxia, Cerebral atrophy, Arthrogryposis multiplex congenita, Failure to thrive, Ce... |
ORPHA:244310 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, My... |
OMIM:615924 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Leukodystrophy, Hypomyelinating, 18 |
|
Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity, Flexion contractur... |
OMIM:618404 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 |
|
Decreased compound muscle action potential amplitude, Difficulty walking |
OMIM:619112 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Decreased nerve conduction velocity, Steppage gait, Difficulty walking |
ORPHA:352675 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Insulin resistance, Lipoatrophy |
ORPHA:79087 |
Pparg-Related Familial Partial Lipodystrophy |
|
Dysmenorrhea, Maternal diabetes, Prominent veins on trunk, Hepatic steatosis, Generalized hirsuti... |
ORPHA:79083 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene... |
OMIM:607677 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Inability to walk, Gait ... |
ORPHA:101077 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
OMIM:612577 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity, Ataxia, Gait disturbance |
ORPHA:101078 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Joint hyperflexibility, Ataxia |
ORPHA:1188 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Peripheral axonal neuropathy, Broad-based gait, Decreased nerve conduction velocity, Limited knee... |
ORPHA:435387 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Lipod... |
ORPHA:2348 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal regeneration |
OMIM:607731 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos... |
OMIM:608709 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:98856 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Steppage gait, Onion bulb formation, Peripheral demyelination, Axonal regeneration |
OMIM:615185 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, S... |
OMIM:614436 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly, Ataxia, Gait disturbance |
ORPHA:2274 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers... |
ORPHA:90103 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... |
ORPHA:71529 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Diabet... |
OMIM:615381 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating creati... |
OMIM:208920 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:615490 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hepatocellular carc... |
ORPHA:369 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607250 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12 |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Segmental peripheral demyelination/remy... |
OMIM:601455 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity, Difficulty walking |
OMIM:615575 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... |
OMIM:151660 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Waddling gait, Compound muscle action potential amplitude facilitation, Decreased compound muscle... |
OMIM:616040 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity |
OMIM:605589 |
Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination |
ORPHA:101082 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity |
OMIM:611105 |
Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste... |
ORPHA:497764 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... |
ORPHA:2457 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Axonal degeneration, Elbow flexion contracture, Waddling gait |
OMIM:618138 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide... |
OMIM:615980 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Decreased nerve conduction velocity, Ataxia |
OMIM:183050 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Ataxia, Gait disturbance |
ORPHA:101075 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Dysmenorrhea, Precocious at... |
ORPHA:280365 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Vomiting, Hepati... |
OMIM:614480 |
Lipase Deficiency, Combined |
|
Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
Galactokinase Deficiency |
|
Speech apraxia, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Premature ov... |
ORPHA:79237 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
EEG abnormality, Axonal loss, Gait disturbance, Abnormal upper motor neuron morphology, Pathologi... |
OMIM:221770 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:613287 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Demyelinating peripheral... |
OMIM:218000 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Ataxia |
ORPHA:1368 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... |
OMIM:302800 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Axonal loss, Ataxia, Peripheral demyelination, Difficulty walking |
OMIM:616684 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity |
ORPHA:640 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Decreased cirrculating antimullerian hormone circulation, Inguinal hernia, Bila... |
OMIM:261550 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... |
OMIM:613327 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... |
OMIM:278000 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Difficulty walking, Gait disturbance, Abnormality of peripheral nerve conduction |
ORPHA:101001 |
Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity, Unsteady gait, Limb ataxia, Gait ataxia, Acute demyeli... |
ORPHA:3115 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... |
OMIM:610947 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity, Steppage gait |
OMIM:302802 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Foot osteomyelitis, Gait disturbance, Abnormal autonom... |
ORPHA:139578 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Decreased number of large peripheral myelinated nerve fibers, Steppage gait, Onion bulb formation... |
OMIM:608340 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Decreased sensory nerve conduction velocity, Flexion contracture of finger, Ataxia, Broad-based g... |
OMIM:609033 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Foam cells with lame... |
OMIM:607616 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity, Choreoathetosis, Leukodystrophy |
OMIM:614932 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Unsteady gait, Abnormal motor nerve conduction velocity |
ORPHA:139536 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Axonal degener... |
OMIM:604168 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Decreased motor nerve conduction velocity, Axonal loss, Achilles tendon contracture, Motor axonal... |
OMIM:620068 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Elbow flexion contracture, Bradykinesia, Subcortical cere... |
ORPHA:306692 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... |
OMIM:616222 |
Krabbe Disease |
|
Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, CNS demyelination, Periphera... |
OMIM:245200 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Elevated circulating creatine kinase concentration, Tremor, Abnormality of the seventh cranial ne... |
ORPHA:90117 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation |
OMIM:182815 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607831 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Steppage gait, Peripheral demyelination, Axonal degeneration/regeneration |
OMIM:607736 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity |
ORPHA:868 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Gait disturbance, Camptodactyly of finger |
ORPHA:2928 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Cerebellar vermis atrophy |
OMIM:617018 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gai... |
ORPHA:521406 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Y |
|
Decreased motor nerve conduction velocity, Elevated circulating creatine kinase concentration |
OMIM:616687 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction |
ORPHA:65684 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Optic atrophy, Dysmetri... |
OMIM:612674 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Inability to walk, Unsteady gait, Demyelinating periph... |
ORPHA:99950 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:250850 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... |
OMIM:616053 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Increased int... |
ORPHA:276435 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... |
OMIM:619279 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy, Steppage gait, Difficulty walking, Onion bulb formation |
OMIM:615035 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Dia... |
ORPHA:75234 |
Peroxisome Biogenesis Disorder 8B |
|
Ataxia, Unsteady gait, Optic atrophy, Dysmetria, Gait ataxia, Tip-toe gait, Leukodystrophy, Loss ... |
OMIM:614877 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri... |
OMIM:608612 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Gait disturbance, Optic atrophy, Ataxia |
ORPHA:99014 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia |
ORPHA:329249 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Axonal loss, Steppage gait, Gait disturbance |
OMIM:118300 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Lipodystrophy, Tremor, Oromotor apraxia, Primary hypothyroidism, F... |
ORPHA:300536 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination |
OMIM:607791 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Hirsutism, Elevated hepatic transaminase, Acut... |
OMIM:608594 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... |
ORPHA:79086 |
Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Flexion contracture, Peripheral hypomyelination, Distal arthrogryposis |
OMIM:616287 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Hirsutism, Elevated hepatic transaminase, Acut... |
OMIM:269700 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Platelet-activating factor acetylhydrolase deficiency, Increased level of platelet-activating factor |
OMIM:614278 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Foot... |
OMIM:201300 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Ataxia-Pancytopenia Syndrome |
|
Decreased nerve conduction velocity, Unsteady gait, Ataxia, Dysmetria |
OMIM:159550 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, De... |
OMIM:270550 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Calcinosis, Al... |
OMIM:248370 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Lipodystrophy, Familial Partial, Type 7 |
|
Lack of facial subcutaneous fat, Clonus, Dysmetria, Gait ataxia, Glucose intolerance, Vomiting, S... |
OMIM:606721 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Foot osteomyelitis, Osteomyelitis, Decreased number of... |
OMIM:162400 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Hypoglycemia, Spastic tetraparesis, Progressive cerebellar ataxia, Dystonia, Failur... |
ORPHA:67046 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Alopecia, Hypertriglyceri... |
OMIM:203800 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Dysmenorrhea, Increased body weight, Vomiting... |
ORPHA:264580 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Alopecia, Ataxia, Abdominal pain, Abdominal distention, Diarrhea, ... |
OMIM:212750 |
Cimdag Syndrome |
|
Hepatomegaly, Lipodystrophy, Ataxia, Microvesicular hepatic steatosis, Chorea, Cerebral atrophy, ... |
OMIM:619273 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Peripheral axonal neuropathy, Decreased distal sensory nerve action potential, Gait disturbance |
OMIM:618400 |
Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Flexion contracture, Leu... |
OMIM:619851 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogonadism... |
OMIM:615768 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Poor appetite, Gastrointestinal dysmotility, Vomiting,... |
ORPHA:298 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
Donohue Syndrome |
|
Clitoral hypertrophy, Precocious puberty, Adipose tissue loss, Abdominal distention, Long penis, ... |
OMIM:246200 |
Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly, Babinski sign, Abnormal glycosphingolipid metabolism, Hyperkinetic mo... |
OMIM:611721 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Knee pain, Spastic gait, Abnormal motor nerve conduction velocity |
ORPHA:100998 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Thic... |
ORPHA:263501 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Ankle flexion contracture, Decreased nerve conduction velocity, Delayed myelinat... |
ORPHA:319514 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl... |
ORPHA:436182 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls |
ORPHA:494526 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Wild Type Abeta2M Amyloidosis |
|
Decreased nerve conduction velocity, Arthritis, Axonal loss, Decreased amplitude of sensory actio... |
ORPHA:85446 |
Acromicric Dysplasia |
|
Decreased nerve conduction velocity, Delayed skeletal maturation, Joint stiffness |
ORPHA:969 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Recurrent hy... |
ORPHA:79299 |
Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, CNS hypomyelination, Leukodystrophy, Loss of ambulatio... |
OMIM:610532 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... |
OMIM:617872 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Obesity, Premature coronary artery atherosclerosis |
OMIM:608320 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Precocious atherosclerosis, Gluco... |
OMIM:145750 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... |
OMIM:306000 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Demyelinating sensory neuropathy, Optic nerve hypoplasia, De... |
ORPHA:101085 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Ataxia, G... |
OMIM:603472 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Dysmenorrhea, Ketotic hypoglycemia, Increased... |
ORPHA:79240 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the you... |
ORPHA:324575 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Spasticity, Tremor, Gait ataxia |
ORPHA:217012 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... |
OMIM:615957 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... |
ORPHA:363710 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Demyelinating motor neuropathy, ... |
OMIM:608804 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Type IV athe... |
OMIM:144300 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Lipodystrophy, Hypertriglyceridemia, Am... |
ORPHA:168569 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Impotence, Cirr... |
OMIM:606069 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Inability to walk, Axonal loss, Ataxia, Peripheral demyelination |
OMIM:617672 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal... |
ORPHA:98762 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Low anterior hairline, Primary amenorrhea, Delayed thel... |
OMIM:616033 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating as... |
ORPHA:2088 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Waddling gait, Facial palsy, Decreased compound muscle action potential amplitude, Flexion contra... |
OMIM:603511 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Classic Galactosemia |
|
Male infertility, Hepatomegaly, Premature ovarian insufficiency, Ataxia, Cryptorchidism, Secondar... |
ORPHA:79239 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619048 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration, Inguinal hernia, Optic nerve hypoplasia, Flexion... |
OMIM:222765 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Hand tremor, Abnormal myelination |
ORPHA:401840 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr... |
ORPHA:98855 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Failure to thrive, Abdominal distention, Diarrhea, Cryptorchidism, Elevated circula... |
OMIM:608104 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, Peripheral demyelin... |
OMIM:250100 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr... |
ORPHA:98863 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentr... |
ORPHA:98853 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... |
OMIM:607317 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic s... |
ORPHA:276575 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... |
OMIM:603552 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... |
ORPHA:206443 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro... |
OMIM:301033 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Torticollis, Head tremor, Dystonia, Intention tremor |
OMIM:613724 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Foam cells, Hypertriglyceridemia, Decreased lecithin cho... |
OMIM:245900 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Hepatic fibrosis, Hepat... |
OMIM:616719 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Failure to thrive, Diffuse cerebral atrophy, Small for gestational age, Crypt... |
OMIM:214150 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, H... |
OMIM:300635 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... |
OMIM:615362 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Abdominal distention, Dia... |
ORPHA:71 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsuline... |
ORPHA:276580 |
Sandhoff Disease, Adult Form |
|
Dystonia, Reduced beta-hexosaminidase activity, Elevated circulating creatine kinase concentratio... |
ORPHA:309169 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Hyperextensibility of the finger joints, Ataxia, Decreased nerve conduction velocity, Dysmetria, ... |
OMIM:618356 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Smith-Magenis Syndrome |
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Hypertriglyceridemia, Impaired pain sensation, Abnormality of the thyroid gland, Synophrys, Incre... |
OMIM:182290 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
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Abnormal nerve conduction velocity, Limb ataxia, Gait ataxia |
OMIM:619862 |
Adult Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... |
ORPHA:206448 |
Spinocerebellar Ataxia Type 20 |
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Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
Atypical Werner Syndrome |
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Abnormal cerebral vascular morphology, Abnormal hair whorl, Fasting hyperinsulinemia, Premature g... |
ORPHA:79474 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... |
ORPHA:263455 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
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Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Feeding difficulties in i... |
OMIM:619013 |
Adrenomyeloneuropathy |
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Peripheral axonal degeneration, Axonal degeneration, Adrenocortical abnormality, Abnormal circula... |
ORPHA:139399 |
Congenital Disorder Of Glycosylation, Type Ia |
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Feeding difficulties in infancy, Tremor, Flexion contracture, Dysmetria, Vomiting, Hypoalbuminemi... |
OMIM:212065 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, C... |
OMIM:256040 |
Multifocal Motor Neuropathy |
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Motor conduction block, Limited wrist extension |
ORPHA:641 |
Wolman Disease |
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Nausea and vomiting, Hepatomegaly, Adrenal calcification, Cachexia, Bone-marrow foam cells, Abdom... |
ORPHA:75233 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
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Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l... |
ORPHA:94124 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
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Waddling gait, Tremor, Inability to walk, Flexion contracture, Clumsiness, Hepatosplenomegaly, Ey... |
ORPHA:2590 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
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Axonal loss, Steppage gait, Onion bulb formation, Claw hand deformity |
OMIM:614455 |
Fatty Liver Disease, Susceptibility To, 2 |
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Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
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Hepatic steatosis |
OMIM:613282 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Babinski si... |
OMIM:264470 |
Glycogen Storage Disease 0, Liver |
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Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Congenital Disorder Of Glycosylation, Type Iip |
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Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Adiposis Dolorosa |
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Abdominal distention, Constipation, Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
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Ketotic hypoglycemia, Hypertonia, Dystonia, Failure to thrive, Hepatic steatosis |
ORPHA:26792 |
Segawa Syndrome, Autosomal Recessive |
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Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
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Decreased motor nerve conduction velocity, Foot osteomyelitis, Peripheral axonal neuropathy, Spas... |
OMIM:256840 |
Congenital Disorder Of Glycosylation, Type Iio |
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Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Spermatogenic Failure 62 |
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Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
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Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Cortisone Reductase Deficiency 2 |
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Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Isolated Polycystic Liver Disease |
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Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff... |
ORPHA:2924 |
Spermatogenic Failure 52 |
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Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
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Male infertility, Azoospermia |
OMIM:415000 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Calcinosis, Alopecia, Abnormal hair morphology, Hyperlipidemia, Insulin resistance, Generalized l... |
ORPHA:90154 |
Lysosomal Acid Lipase Deficiency |
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Adrenal calcification, Bone-marrow foam cells, Precocious atherosclerosis, Microvesicular hepatic... |
ORPHA:275761 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hepatomegaly, Hypersplenism, Splenomegaly, Increased cerebral lipofuscin, Myoclonus, Hypocholeste... |
OMIM:610539 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Painless fractu... |
OMIM:256810 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
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Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... |
OMIM:602433 |
Migraine, Familial Hemiplegic, 1 |
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Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
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Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Spastic Ataxia 2, Autosomal Recessive |
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Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... |
OMIM:611302 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... |
ORPHA:158057 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Impaired pain sensation, Precocious puberty, ... |
ORPHA:819 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
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Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... |
OMIM:300423 |
Familial Multiple Lipomatosis |
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Lipodystrophy, Functional intestinal obstruction, Increased adipose tissue, Insulin resistance, H... |
ORPHA:199276 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
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Decreased motor nerve conduction velocity, Ataxia, Gait ataxia, Difficulty walking, Decreased amp... |
OMIM:616688 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
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Decreased compound muscle action potential amplitude, Flexion contracture, Joint hypermobility |
OMIM:618323 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
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Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ataxia |
OMIM:256600 |
Thyroid Hormone Metabolism, Abnormal, 2 |
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Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
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Ataxia, Symmetric peripheral demyelination, Autonomic bladder dysfunction, Leukodystrophy, Autono... |
OMIM:169500 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, F... |
OMIM:617591 |
Spinocerebellar Ataxia Type 1 |
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Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Gait disturbance, Ga... |
ORPHA:98755 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
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Cerebellar atrophy, Premature ovarian insufficiency, Ataxia, Babinski sign, Hand tremor, Neurodeg... |
OMIM:615889 |
Werner Syndrome |
|
Abnormal cerebral vascular morphology, Abnormal hair whorl, Premature graying of hair, Thyroid ca... |
ORPHA:902 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Hepatic steatosis |
ORPHA:210548 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Absent eyebrow, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Pulmonary carcinoid tumor, P... |
ORPHA:363618 |
Diabetes Mellitus, Permanent Neonatal, 2 |
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Type I diabetes mellitus, Hyperglycemia, Hypsarrhythmia |
OMIM:618856 |
Body Mass Index Quantitative Trait Locus 19 |
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Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Behr Syndrome |
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Cerebellar atrophy, Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Unsteady gait, Ad... |
OMIM:210000 |
Spinocerebellar Ataxia 10 |
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Decreased nerve conduction velocity, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ... |
OMIM:603516 |
Spastic Paraplegia 79B, Autosomal Recessive |
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Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Flexion cont... |
OMIM:615491 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Athetosis, Glycosuria, Interictal epileptiform activity, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
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Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Obesity, Optic atrophy, Atypical scarring of skin, Hypogon... |
ORPHA:791 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Autosomal Recessive Spastic Paraplegia Type 25 |
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Lower limb pain, Upper limb pain, Abnormality of peripheral nerve conduction |
ORPHA:101005 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Ataxia, Micronodular... |
ORPHA:98907 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Abetalipoproteinemia |
|
CNS demyelination, Ataxia, Peripheral demyelination |
OMIM:200100 |
Diarrhea 13 |
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Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis |
OMIM:620357 |
Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers, Progressive cerebellar ataxia, Gait... |
ORPHA:101111 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Se... |
ORPHA:3085 |
Yuan-Harel-Lupski Syndrome |
|
Joint laxity, Broad-based gait, Decreased nerve conduction velocity, Unsteady gait, Gait ataxia, ... |
OMIM:616652 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Hyperglycemia |
OMIM:618970 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Absent brainstem auditory responses, Aganglionic megacolon, Ataxia, Short-segment aganglionic meg... |
OMIM:609136 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... |
ORPHA:314632 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Camptodactyly of finger, Osteoporosis, Dysmetria, Abnormality of peripheral nerve conduct... |
ORPHA:48431 |
Werner Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate ... |
OMIM:277700 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Camptodactyly of finger, Decreased nerve conduction velocity, Axo... |
OMIM:604320 |
Hypercholesterolemia, Familial, 4 |
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Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration, Atherosclerosis |
OMIM:603813 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Ataxia, Broad-based gait, Cryptorchidism, Insulin resistance,... |
OMIM:616541 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia, Obesity |
OMIM:620195 |
Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Hypoplasia of penis, Femoral hernia, Cryptorchidism, Abnormal panc... |
ORPHA:2849 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Unsteady gait, Knee flexion contracture, Wrist flexion contr... |
OMIM:618733 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralysis, Plantar flexion contr... |
OMIM:620011 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased nerve conduction velocity, Dysmetria, Dysdiadochokinesis, Truncal ataxia, Spastic gait |
OMIM:238970 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Peripheral demyelination |
OMIM:616733 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia... |
OMIM:267700 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Hypergonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysm... |
OMIM:617145 |
Cholestasis-Lymphedema Syndrome |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Abdominal pa... |
ORPHA:1414 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Decreased compound muscle action potential amplitude, Wrist flexion contracture |
OMIM:619519 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Hypertriglyceridemia, Ataxia, Impaired proprioception, Dysmetria, Clumsiness,... |
OMIM:277460 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Bowel incontinence, Truncal titubation, Gastrointestinal dysmotility, Axonal degeneration... |
ORPHA:88628 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Abnormal circulating acylcarnitine concentration, Elevated hepatic transam... |
ORPHA:71212 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Neurodegeneration, Gait dist... |
OMIM:615643 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Abnormal thyroid morp... |
ORPHA:139507 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Increased cerebral lipofuscin, Hepatic steatosis, Cerebral atrophy, Limb hypertonia |
OMIM:615918 |
Aromatase Deficiency |
|
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Loss of ambulation, Decreased compound muscle action pote... |
OMIM:606353 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... |
ORPHA:216873 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Abdominal distention, Elevated circulating alkaline phosphatase concent... |
OMIM:174050 |
Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Neoplasm of the pancreas, Somatic sensory dysfunction, Torticollis, Metrorrh... |
ORPHA:370348 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglyce... |
ORPHA:276556 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Spastic gait |
OMIM:270685 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Cerebrotendinous Xanthomatosis |
|
Precocious atherosclerosis, Axonal degeneration, Abnormal pyramidal sign, Gliosis, Hypothyroidism... |
ORPHA:909 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Elevated gamma-glutamylt... |
ORPHA:247598 |
Diaminopentanuria |
|
Spasticity, Neurodegeneration, Ataxia |
OMIM:222350 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Cho... |
ORPHA:79263 |
Hypoglycemia, Leucine-Induced |
|
Spasticity, Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoglycemia, Ataxia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Adrena... |
OMIM:617575 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Hypermanganesemia With Dystonia 2 |
|
Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait disturbance, Ce... |
OMIM:617013 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Analbuminemia |
|
Lipodystrophy, Patent ductus arteriosus, Elevated circulating transferrin concentration, Increase... |
OMIM:616000 |
Congenital Disorder Of Glycosylation, Type In |
|
Hepatomegaly, Ataxia, Cerebral atrophy, Myoclonus, Spasticity, Failure to thrive |
OMIM:612015 |
Leprechaunism |
|
Increased circulating renin level, Recurrent infantile hypoglycemia, Fasting hypoglycemia, Hepato... |
ORPHA:508 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Vo... |
OMIM:277900 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated ci... |
OMIM:617253 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hepatic steatosis, Diabetes... |
ORPHA:412 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Hypoglycemia, Cachexia, Cardiomegaly, Distal... |
ORPHA:42 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Babinski sign,... |
OMIM:612319 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar... |
OMIM:615558 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Sialidosis Type 1 |
|
Ataxia, Decreased nerve conduction velocity, Delayed skeletal maturation, EEG abnormality, Gait d... |
ORPHA:812 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... |
OMIM:227810 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration, Premature coronary artery at... |
OMIM:618666 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Facial palsy, Decreased compound muscle action potential amplitude, ... |
OMIM:301830 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Tremor, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic... |
ORPHA:276608 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Optic nerve hypoplasia, Hypospadias, Increased circulating farnesol... |
OMIM:618156 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Generalized dystonia, Ataxia, Inability to walk, Chorea, Decreased liver function, Spasticity, Fa... |
ORPHA:70472 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... |
ORPHA:77296 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Failure to thrive, Diarrhea, Vomiting, Hypoalbuminemia, Hepatic fibrosis, Steatorrh... |
OMIM:602579 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Diffi... |
ORPHA:330050 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Ataxia, Increase... |
OMIM:603553 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Neuronal loss in ... |
OMIM:610245 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Feeding difficulties, Poor fin... |
ORPHA:254531 |
Secondary Short Bowel Syndrome |
|
Small intestinal dysmotility, Aganglionic megacolon, Abdominal distention, Diarrhea, Malnutrition... |
ORPHA:95427 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size |
ORPHA:98797 |
Thyroid Hemiagenesis |
|
Thyroid agenesis, Abdominal distention, Jaundice, Constipation, Umbilical hernia |
ORPHA:95719 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babins... |
OMIM:615157 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Decreased nerve conduction velocity, Congenital foot contractures, Hypsarrhyth... |
ORPHA:565624 |
Lethal Congenital Contracture Syndrome 5 |
|
Decreased nerve conduction velocity, EEG with burst suppression, Congenital contracture, Flexion ... |
OMIM:615368 |
Cednik Syndrome |
|
Ataxia, Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:66631 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Inflammation of the large intestine, Hepatic steatosis, Hypothyroidism, He... |
ORPHA:79259 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormal nerve conduction velocity, Camptodactyly of finger |
ORPHA:2926 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Failure to thrive, Foam cells with lamellar inclusion bodies, Elevated circulating ... |
OMIM:257200 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Congenital diaphragmatic hernia, Gait ataxia |
ORPHA:438134 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Neuromyelitis Optica Spectrum Disorder |
|
Peripheral demyelination |
ORPHA:71211 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertriglyceridemia, ... |
ORPHA:536532 |
Bangstad Syndrome |
|
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased cir... |
ORPHA:1227 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Anorexia, Vomiting, Decreased male libido, Nausea, Abdom... |
ORPHA:330015 |
Alg12-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Abnorm... |
ORPHA:79324 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Ataxia, Cachexia, Abdominal pain, Abdominal distention, Gastrointe... |
OMIM:613662 |
Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Facial palsy, Abnormal motor nerve conduction velocity |
OMIM:614399 |
Familial Chylomicronemia Syndrome |
|
Nausea and vomiting, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Precocious athe... |
ORPHA:444490 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Neurodegeneration, Cerebral atrophy |
OMIM:610951 |
Rabson-Mendenhall Syndrome |
|
Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Fasting h... |
ORPHA:769 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Steppage gait, Abnormal peripheral myeli... |
ORPHA:168563 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Cerebral atrophy, Hypogonadism, Joint contracture |
OMIM:608540 |
Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Abdominal distention, Chorea,... |
ORPHA:79097 |
Trehalase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Abdominal pain, Abdominal distention, Diar... |
ORPHA:103909 |
Trigeminal Neuralgia |
|
CNS demyelination, Cranial nerve compression, Peripheral demyelination |
ORPHA:221091 |
Chédiak-Higashi Syndrome |
|
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Hyponatremia, Ataxia, P... |
ORPHA:167 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
Optic Atrophy 11 |
|
Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, EEG with fo... |
OMIM:617302 |
Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul... |
ORPHA:90003 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Ataxia, Severe demyelination of the white matter, Opti... |
ORPHA:1187 |
Autosomal Spastic Paraplegia Type 58 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... |
ORPHA:397946 |
Charcot-Marie-Tooth Disease Type 1E |
|
Decreased nerve conduction velocity, Inability to walk, Steppage gait, Gait disturbance, Gait imb... |
ORPHA:90658 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Alopecia, Dorsocervical fat pad, Paradoxical... |
ORPHA:189427 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... |
ORPHA:2298 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Feeding difficulties in infancy, Diarrhea, Hyperinsulinemia, Vomiting, Failure to t... |
OMIM:606528 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Inability to walk, Limb pain, Steppage gait, Gait imbalance, Abnormality of the au... |
ORPHA:36386 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... |
ORPHA:309256 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Abdominal distention, Splenomegaly, Panc... |
OMIM:235255 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:620282 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Feeding difficulties in infancy, Abdominal distention, Elevated circul... |
ORPHA:226313 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Ataxia |
ORPHA:1933 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... |
OMIM:618093 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells... |
ORPHA:97279 |
Steinert Myotonic Dystrophy |
|
Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Oral-pharyn... |
ORPHA:273 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Feeding difficulties, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Poor appeti... |
ORPHA:3163 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Cerebral... |
OMIM:261680 |
Schimke Immuno-Osseous Dysplasia |
|
Small for gestational age, Abnormality of thyroid physiology, Transient ischemic attack, Abdomina... |
ORPHA:1830 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:232400 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating enzyme concentration or activity, Ankle flexion contracture, A... |
ORPHA:100924 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Ataxia, Tremor, Flexion contracture, Cerebral atrophy, Opisthotonus, Choreoat... |
OMIM:616271 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Elevated circulating alanine aminot... |
OMIM:618805 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration, Steppage gait, Gait disturbance, Distal sensory impairment |
OMIM:616155 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Precocious atherosclerosis, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholest... |
ORPHA:79506 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Rigidity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis,... |
OMIM:610185 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Unsteady gait, Difficulty wal... |
ORPHA:600 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,... |
OMIM:619418 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Dystonia,... |
OMIM:617916 |
Short Syndrome |
|
Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestational age, Insulin-resistant diabete... |
OMIM:269880 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Clonus, Axonal degeneration, Falls, Tongue fasciculations, Failure to thrive |
OMIM:618811 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Intrahepatic cholestasis with episodic jaundice, Anorexia, Elevated carcinoembryonic antigen leve... |
ORPHA:100085 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... |
ORPHA:79319 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, Tremor, Mildly elevated creatine kinase |
ORPHA:397744 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone sti... |
ORPHA:3464 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Joint contracture, Optic atrophy |
OMIM:615419 |
Amyotrophic Lateral Sclerosis 21 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Abnormal lower motor neuron m... |
OMIM:606070 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Abdominal distention, Splenomegaly, Pancreatic lymphangiectasis, C... |
ORPHA:1655 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cerebellar ... |
ORPHA:98763 |
3-Methylglutaconic Aciduria Type 7 |
|
Cerebellar atrophy, Elevated hepatic transaminase, Hypothyroidism, Abnormal pyramidal sign, Cereb... |
ORPHA:445038 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Clumsiness, Distal sens... |
ORPHA:488650 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Small for gestational age, Abdominal distention, Hyperlipidemia, Hypoalbuminemia... |
OMIM:256300 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Spars... |
OMIM:619127 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Cerebellar atrophy, Spastic ataxia, Tremor, Flexion contracture, Slurred speech, Babinski sign, C... |
ORPHA:137898 |
Dpm1-Cdg |
|
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Cerebral atrophy, Knee f... |
ORPHA:79322 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Steppage gait, Axona... |
OMIM:601152 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Flexion contracture, Babinski sign, Obesi... |
OMIM:300055 |
Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Rigidity, Splenomegaly, Tremor, Dystonia, Loss of ambulation |
OMIM:615010 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... |
ORPHA:79644 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... |
OMIM:600363 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Hepatic failure |
OMIM:177000 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... |
ORPHA:454887 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Increased circulating ferritin concentration, Panniculitis, Hypertriglyceridemia |
OMIM:618398 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Abdominal colic, Hyperlipidemia, Diarrhea, Vomiting, Hypoalbuminemia, Hypercholesterolemia, Failu... |
OMIM:615863 |
Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Ataxia, Tremor, Splenomegaly, Flexion contracture, Umbilical herni... |
ORPHA:87876 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Speech apraxia, Ataxia, Dystonia... |
OMIM:615356 |
Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity, Limitation of joint mobility |
ORPHA:93476 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Cerebral cortical hemiatrophy, Brain a... |
ORPHA:306669 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dyst... |
OMIM:618224 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Broad-based gait, Elbow flexion contracture, Spastic tetraparesis |
OMIM:619470 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Multiple joint contrac... |
ORPHA:2959 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Steppage gait, Ga... |
ORPHA:101076 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Accelerated atherosclerosis, Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL... |
ORPHA:209902 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Myoclonus, Dystonia, Frequent falls, Hypothyroidism |
OMIM:619647 |
Immunodeficiency 97 With Autoinflammation |
|
Hypertriglyceridemia, Abdominal pain, Increased circulating ferritin concentration, Diarrhea, Spl... |
OMIM:619802 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... |
OMIM:617435 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... |
ORPHA:96184 |
Congenital Pancreatic Cyst |
|
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis |
ORPHA:313906 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Peripheral axonal neuropathy, Brittle hair, Feeding difficulties in infancy, Sparse... |
OMIM:618810 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Flexion c... |
OMIM:619026 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Type I di... |
OMIM:616192 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Hyperlipidemia, Flexion contracture, Ins... |
ORPHA:90153 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity, C... |
OMIM:213200 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Chronic pan... |
ORPHA:98908 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Chorea, Difficulty walking, Truncal a... |
ORPHA:369840 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Dystonia, Spasticity |
ORPHA:77260 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Subcortical cerebral atrophy, Hypertonia, Cerebral cortical hemiatrophy... |
ORPHA:33445 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased nerve conduction velocity, Broad-based gait, Decreased number of peripheral myelinated ... |
ORPHA:477817 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Inability to walk, Optic atrophy, Dysmetria, Gait atax... |
ORPHA:95 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Abetalipoproteinemia, Elevated circulating creatine kinase concentr... |
ORPHA:96180 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... |
ORPHA:485421 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Decreased nerve conduction velocity, Facial diplegia, Difficulty walking |
ORPHA:329478 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Onychauxis, Precocious puberty, Insulin-resistant diabet... |
OMIM:262190 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Dysmetria, Limb atax... |
OMIM:164400 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Eleva... |
OMIM:618620 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... |
ORPHA:540 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Decreased testicular size |
OMIM:614962 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... |
OMIM:619028 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Tremor, Synophrys, Wide penis, Hypertonia,... |
ORPHA:3455 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ataxia, Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Athetosis, L... |
OMIM:271245 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Steppage gait |
OMIM:618387 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... |
OMIM:608799 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Hypopigmentation of hair, Diabetes mellitus, Ataxia, Abnormal test... |
ORPHA:100 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619386 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Cardiomegaly, Impaired distal proprioception, Impaired p... |
ORPHA:14 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Hypoglycemia, Insulin resistance, Low anterior hairline, Low posterior... |
ORPHA:73272 |
Chylomicron Retention Disease |
|
Impaired vibratory sensation, Failure to thrive, Diarrhea, Malnutrition, Decreased LDL cholestero... |
OMIM:246700 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Hypergonadotropic hypogonadism, Ataxia, Tremor, Hemiparesis, Abnormality of the liver, Spasticity... |
OMIM:614307 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Hepatomegaly, Ataxia, Anorexia, Abdominal pain, Cachex... |
ORPHA:3452 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... |
OMIM:615158 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Steppage gait, Sensory axon... |
OMIM:256850 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Estrogen Resistance Syndrome |
|
Abnormality of the pubic hair, Enlarged polycystic ovaries, Elevated tissue non-specific alkaline... |
ORPHA:785 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... |
OMIM:212140 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... |
ORPHA:293964 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... |
OMIM:607765 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Osteomyelitis, Ataxia |
OMIM:614116 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Increased intramyocellula... |
OMIM:612016 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cram... |
OMIM:128100 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykines... |
OMIM:613280 |
Infantile Neuroaxonal Dystrophy |
|
Peripheral axonal neuropathy, Ataxia, Flexion contracture, Optic atrophy, Unsteady gait, Gait dis... |
ORPHA:35069 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Macroorchidism, Hypercholesterole... |
ORPHA:90674 |
Friedreich Ataxia |
|
Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Decreased sensory nerve conduction velocity, Dec... |
OMIM:229300 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Limb joint contracture, Flexion contracture, CNS hypom... |
OMIM:618186 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Abdominal colic, Diabetes mellitus, Liver abscess, Cholangitis, Ov... |
ORPHA:69663 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidem... |
OMIM:232200 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Hand tremor, Abnormal myelination |
ORPHA:401830 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Microvesicular hepatic steatosis, Chorea, Cerebral atrophy, Opisthotonus, Myo... |
OMIM:616672 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Elevated circulating p... |
OMIM:277440 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Dystonia, Ataxia, Elevated circulating creatine kinase concentration... |
ORPHA:64753 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Flexion contracture of finger, Decreas... |
ORPHA:466768 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Ataxia, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to t... |
OMIM:266510 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Very long chain fatty acid accumulation, Ataxia, Tremor, Unsteady gait, Dysme... |
OMIM:614867 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Griscelli Syndrome Type 1 |
|
Ataxia, Hyperlipidemia, White hair, Premature graying of hair, Hypertonia |
ORPHA:79476 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Hypogonadotropic hypogonadism, Ataxia, Postural tremor, Tremor, Bab... |
OMIM:607694 |
Liver Disease, Severe Congenital |
|
Dry hair, Dilatation of the ventricular cavity, Cardiomegaly, Biliary hyperplasia, Vomiting, Hypo... |
OMIM:619991 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Limb tremor, Abnormal myelination |
ORPHA:401820 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lower limb spasticity, Hepatic steatosis |
OMIM:615119 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
OMIM:176270 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di... |
ORPHA:98764 |
Tangier Disease |
|
Accelerated atherosclerosis, Peripheral axonal neuropathy, Hypertriglyceridemia, Carotid artery s... |
ORPHA:31150 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Hand tremor, Abnormal myelination |
ORPHA:401835 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, V... |
ORPHA:470 |
Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Atrophy/Degeneration affecting the c... |
ORPHA:228360 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Fasciculations, Brain atrophy, Hepatic steatosis, U... |
ORPHA:52430 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Polyembryoma |
|
Abnormal peritoneum morphology, Abnormal circulating gonadotropin concentration, Abdominal mass, ... |
ORPHA:180229 |
Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Abnormal CNS myelination, Optic atrophy, Ataxia |
OMIM:610651 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Mic... |
OMIM:251880 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Ataxia, Feed... |
OMIM:246900 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Onion bulb formation |
OMIM:614487 |
Potocki-Lupski Syndrome |
|
Small for gestational age, Oral-pharyngeal dysphagia, Feeding difficulties in infancy, Gastroesop... |
OMIM:610883 |
Bloom Syndrome |
|
Male infertility, Diabetes mellitus, Sparse eyelashes, Small for gestational age, Poor appetite, ... |
ORPHA:125 |
Wiedemann-Rautenstrauch Syndrome |
|
Flexion contracture, Hypertonia, Hypoplasia of the thymus, Intention tremor, Absent eyebrow, Alop... |
OMIM:264090 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Feeding difficulties, Glucose intolerance, Abnormal autonomic nervous ... |
ORPHA:369873 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosis, Dystonia |
OMIM:612126 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... |
OMIM:615237 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Scarring, Hepatocellular carci... |
ORPHA:101330 |
Laron Syndrome |
|
Hypoplasia of penis, Hypoglycemia, Abnormality of the endocrine system, Hypohidrosis, Truncal obe... |
ORPHA:633 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Insulin-resistant diabetes mellitus, Chorea, Diffi... |
ORPHA:401768 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl... |
ORPHA:77293 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Axonal degeneration, Brachial plexus neuropathy |
OMIM:162100 |
4H Leukodystrophy |
|
Cerebellar atrophy, Dystonia, Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, D... |
ORPHA:289494 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Feeding difficulties in infan... |
OMIM:613070 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Multiple lipomas, Gait ... |
ORPHA:765 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal circulating enzyme concentration or activity, Abdominal pain, Abdominal diste... |
ORPHA:103907 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Premature ovarian insufficiency, Po... |
OMIM:300623 |
Spinocerebellar Ataxia Type 32 |
|
Cerebellar atrophy, Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait a... |
OMIM:614831 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Tip-toe gait, Ataxia, Spastic gait |
OMIM:604360 |
Gitelman Syndrome |
|
Maternal diabetes, Hyperhidrosis, Glucose intolerance, Hypocalcemia, Hashimoto thyroiditis, Abdom... |
ORPHA:358 |
Ataxia-Oculomotor Apraxia 4 |
|
Impaired vibratory sensation, Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating alpha-fe... |
OMIM:616267 |
Peroxisome Biogenesis Disorder 4B |
|
Decreased nerve conduction velocity, Gait disturbance, Optic atrophy, Ataxia |
OMIM:614863 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Cerebellar atrophy, Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Atax... |
OMIM:616263 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia |
OMIM:617106 |
3-Methylglutaconic Aciduria, Type V |
|
Ataxia, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic ste... |
OMIM:610198 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Xp21 Deletion Syndrome |
|
Nausea and vomiting, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating cr... |
ORPHA:261476 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... |
ORPHA:240094 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Progressive gait ataxia, Optic atrophy, Leukodystrophy |
ORPHA:309263 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... |
OMIM:615438 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Abdominal pain, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnorma... |
ORPHA:567548 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis |
OMIM:618234 |
Congenital Tufting Enteropathy |
|
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Optic disc coloboma, Weight loss, Cho... |
ORPHA:92050 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... |
OMIM:300894 |
Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice |
ORPHA:79234 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Ataxia, Thick hair, Splenomegaly,... |
OMIM:613489 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Portal hypert... |
OMIM:619487 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Optic neuropathy, Optic atrophy, Arthrogryposis multiplex congenita, Decreased sensory nerve cond... |
ORPHA:320375 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Nail dystrophy, Small ... |
OMIM:610644 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Flexion contracture, Babinski sign, Dysmetria, Gait ataxia, H... |
OMIM:616505 |
Bardet-Biedl Syndrome 19 |
|
Hepatic steatosis, Hypogonadism, Obesity |
OMIM:615996 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... |
OMIM:619738 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular ca... |
OMIM:232220 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation |
OMIM:614018 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Gastrointestinal dysmotility, Hypertonia,... |
OMIM:270400 |
Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Ataxia, Thick hair, Elevated circulating creatine kinase concentration, Tremor, ... |
OMIM:617675 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Painless fractures due to injury, Abnormal autonomic nervous ... |
OMIM:243000 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating branched cha... |
ORPHA:2394 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hyperammonemia, Hyperinsulinemic hy... |
ORPHA:35878 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Ataxia, Aganglionic megacolon, Nephrogenic diabetes insipidus, Insulin resista... |
OMIM:209900 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogo... |
OMIM:235200 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... |
ORPHA:139485 |
Aredyld Syndrome |
|
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Type II dia... |
ORPHA:1133 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Cerebellar atrophy, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, ... |
ORPHA:369837 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size |
ORPHA:98798 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Cryptorchidism, Hypertonia, Gait disturbance, Type I diabetes mellitus, Cerebral cortical... |
ORPHA:1192 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Difficulty walking... |
OMIM:159950 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ina... |
ORPHA:254930 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive in infancy, Ataxia, Splenomegaly, Abnormal pyramidal sign, Atheto... |
ORPHA:834 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Hyponatremia, Abnormal circulating enzyme concentration or activity, Somatic... |
ORPHA:79276 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Increased circulating ... |
ORPHA:158048 |
Vipoma |
|
Anorexia, Poor appetite, Secretory diarrhea, Hepatomegaly, Follicular thyroid carcinoma, Episodic... |
ORPHA:97282 |
Rett Syndrome |
|
Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Cholecystitis, Increased serum l... |
ORPHA:778 |
Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar atax... |
ORPHA:254881 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma,... |
OMIM:118450 |
Ataxia With Vitamin E Deficiency |
|
Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy... |
ORPHA:96 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Intention tremor |
OMIM:619322 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordination, Tremor, Dysmetria,... |
ORPHA:1170 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Abnormal circul... |
ORPHA:314478 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Inability to walk, Flexion contracture, Optic atrophy |
OMIM:615663 |
Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unste... |
OMIM:616795 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Increased circulating NT-proBNP concentration, Gastrop... |
ORPHA:85443 |
Microtriplication 11Q24.1 |
|
Speech apraxia, Hyperlipidemia, Synophrys, Obesity, Hyperkinetic movements, Long eyelashes, Thick... |
ORPHA:289522 |
Griscelli Syndrome Type 2 |
|
Nausea and vomiting, Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Hyperlipidemia, Jaundi... |
ORPHA:79477 |
Scheie Syndrome |
|
Abnormal nerve conduction velocity, Limitation of joint mobility, Joint stiffness |
ORPHA:93474 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia, Leukodystrophy, Diff... |
ORPHA:309271 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Lower limb spasticity, Dystonia, Ataxia, Bilateral cryptorchidism,... |
ORPHA:66634 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Elevated circulating p... |
OMIM:264700 |
Methanol Poisoning |
|
Cerebral hemorrhage, Abdominal pain, Hyperlipidemia, Diarrhea, Inflammatory arteriopathy, Intracr... |
ORPHA:31825 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Macrovesicular hepatic steatosis, Hypo... |
OMIM:600649 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Decreased motor nerve conduction velocity, Osteomyelitis |
OMIM:613640 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Cerebellar atrophy, Hepatomegaly, Ataxia, Splenomegaly, Inability to walk, Babinski sign, Camptod... |
OMIM:616354 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... |
ORPHA:90793 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Foot joint contracture, Facial palsy, Ataxia, Achilles... |
ORPHA:456312 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Achondrogenesis, Type Ib |
|
Umbilical hernia, Inguinal hernia, Stillbirth, Abdominal distention |
OMIM:600972 |
Somatostatinoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... |
ORPHA:97283 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Glucose intolerance... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Glucose intolerance... |
ORPHA:99228 |
Monosomy X |
|
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Glucose intolerance... |
ORPHA:99226 |
Turner Syndrome |
|
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Glucose intolerance... |
ORPHA:881 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Peripheral axona... |
OMIM:615673 |
Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Peripheral arterial stenosis, ... |
ORPHA:90041 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Hyperthyroidism, Thick hair, Tremor, Primary amen... |
ORPHA:502423 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Cerebral atrophy, G... |
OMIM:618877 |
Athyreosis |
|
Thyroid agenesis, Abdominal distention, Feeding difficulties, Constipation, Hypothyroidism |
ORPHA:95713 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Ppoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... |
ORPHA:97278 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... |
OMIM:618549 |
19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis, Hypospadias, Precocious puberty, Cryptorchidism, Hyperlipidemia, Synophrys, Ob... |
ORPHA:254346 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Ataxia, Limb ataxia, Gait ataxia, Axonal loss, A... |
OMIM:614575 |
Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
Placental Insufficiency |
|
Insulin resistance, Cerebral palsy, Small for gestational age |
ORPHA:439167 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis, Ataxia |
OMIM:275630 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Inguinal hernia, Hypoglycemia, Elbow contracture, Rigidity, Abdominal distention, Feeding difficu... |
OMIM:620275 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressiv... |
ORPHA:845 |
Achondrogenesis Type 1A |
|
Umbilical hernia, Femoral hernia, Abdominal distention |
ORPHA:93299 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Gastroesophageal reflux, Hypoalbumi... |
OMIM:619534 |
Aicardi-Goutieres Syndrome 4 |
|
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cerebral atrophy, ... |
OMIM:610333 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Pancreatitis, Episodic abdominal pain, Hepatosplenomegaly... |
OMIM:238600 |
Peho Syndrome |
|
Optic atrophy, Peripheral dysmyelination, Hypsarrhythmia |
OMIM:260565 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Decreased methionine synthase activit... |
OMIM:614857 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Orthostatic hypotension, Portal hypertension, Abnormali... |
ORPHA:186 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Thick hair, Highly arched eyebrow, Overweight, Type II diabetes mellitus, Hypercholesterolemia |
ORPHA:401923 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Hypoglycemia, Spastic tetraparesis, Cardiomegaly, Poor coordination, Sp... |
ORPHA:391428 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Inguinal hernia, Somatic sensory dysfunction, Anorexia, Abdominal pain, Abdominal distention, Hyp... |
ORPHA:51890 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... |
ORPHA:2089 |
Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Tremor, Inability to walk, Limb myoclonus, Gait ataxia, Pill-rol... |
ORPHA:3095 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Cere... |
ORPHA:442835 |
48,Xxyy Syndrome |
|
Inguinal hernia, Hypoplasia of penis, Hypergonadotropic hypogonadism, Abnormal dental enamel morp... |
ORPHA:10 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A... |
OMIM:602390 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive |
ORPHA:477673 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Premature coronary artery atherosc... |
ORPHA:140905 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Spa... |
ORPHA:329284 |
Multiple Sulfatase Deficiency |
|
CNS demyelination, Ataxia, Peripheral demyelination |
OMIM:272200 |
Gm1 Gangliosidosis |
|
Tremor, Decreased beta-galactosidase activity, Gastroesophageal reflux, Decerebrate rigidity, Che... |
ORPHA:354 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hypogonadism, He... |
OMIM:613313 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Alternating Hemiplegia Of Childhood |
|
Anorexia, Oral-pharyngeal dysphagia, Tremor, Gastrointestinal dysmotility, Chorea, Abnormal pyram... |
ORPHA:2131 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hemiplegia/hemiparesis, Transient hype... |
ORPHA:156 |
Grfoma |
|
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Pheochromocytoma, Hepatome... |
ORPHA:97261 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Ataxia, Delayed peripheral myelination, Unsteady gait, Difficulty walking |
ORPHA:464282 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Failure to thrive in infancy, Hypospadias, Cachexia, Prec... |
ORPHA:813 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Elevated alkaline phosphatas... |
OMIM:615363 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Tremor, Optic disc pallor, Hyperglycemia |
OMIM:619737 |
Microcephaly, Amish Type |
|
Hepatomegaly, Flexion contracture, Myoclonus, Failure to thrive, Limb hypertonia |
OMIM:607196 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Lower limb spasticity, Ataxia, Dysmetria, Hepatosplenomegaly, Myoc... |
ORPHA:93399 |
Fucosidosis |
|
Hepatomegaly, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, Abnormal pyramidal sign,... |
ORPHA:349 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... |
OMIM:312080 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,... |
ORPHA:99027 |
Short Stature, Dauber-Argente Type |
|
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... |
OMIM:619489 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Failure to thrive, Ataxia, Poor appetite, Tremor, Splenomegaly, Diarrhea, Paronychi... |
OMIM:201100 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Necrotizing enterocolitis, Hypertriglyceridemia, Small for gestational age, Elevate... |
OMIM:619573 |
Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Hyperhidrosis, Elevated circulating parathyroid hormone level, Pheochr... |
ORPHA:653 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation |
OMIM:619405 |
Neuhauser Syndrome |
|
Ataxia, Poor coordination, Low anterior hairline, Primary hypothyroidism, Dysphagia, Hypercholest... |
OMIM:249310 |
Aceruloplasminemia |
|
Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Involuntary movements, Dystonia, Tremor, Ri... |
ORPHA:48818 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Reduced circulating aldolase concentration, Abdominal pain, Reactive hypoglycemia, ... |
ORPHA:469 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia |
OMIM:201450 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Gait disturbance, Decreased ... |
ORPHA:436271 |
Gonadoblastoma |
|
Gonadal dysgenesis with female appearance, male, Abdominal pain, Abdominal distention, Hirsutism,... |
ORPHA:206484 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... |
OMIM:614921 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Increased hepatic gl... |
OMIM:261750 |
Qazi-Markouizos Syndrome |
|
Torticollis, Abdominal distention, Cryptorchidism, Chronic constipation, Small nail |
ORPHA:3010 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Bilateral cryptorchidism, Axonal degeneration, Scissor gait, Optic atrophy, Cerebral atro... |
OMIM:278800 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Sepsis In Premature Infants |
|
Hepatomegaly, Small for gestational age, Elevated circulating C-reactive protein concentration, A... |
ORPHA:90051 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Diarrhea, Hypoplasia of the t... |
OMIM:619313 |
Rotor Syndrome |
|
Jaundice, Storage in hepatocytes, Intermittent jaundice |
ORPHA:3111 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Tremor, Inability to walk, Spasticity, Choreoathetosis, Dystonia, Joint contr... |
OMIM:617664 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl... |
OMIM:307030 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Sialuria |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Synophrys, Low posterior hairline, Poor fine motor c... |
OMIM:269921 |
Acrocephalopolydactyly |
|
Protuberant abdomen, Hepatosplenomegaly |
ORPHA:221054 |
Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Athetosis, Hypoglycemia, Clonus |
OMIM:266150 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Bloody diar... |
ORPHA:391673 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Hepatic failure, Cho... |
ORPHA:79303 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Optic atrophy, Dysmetria, Dysdiadochokinesis, Difficulty walking, Peripheral demyelination |
ORPHA:171629 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm... |
OMIM:618183 |
Glucose/Galactose Malabsorption |
|
Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Glycosuria, Failure to thrive, ... |
OMIM:606824 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Glucagonoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... |
ORPHA:97280 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Tremor, Obesity, Shuffling... |
ORPHA:3077 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Flexion contracture, Unsteady gait, Ce... |
ORPHA:17 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Decreased compound muscle action potential amplitude, Osteoarthritis, Joint hypermobility |
OMIM:620080 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Conjugated hype... |
OMIM:617156 |
Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers, Ataxia |
OMIM:608703 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Cockayne Syndrome |
|
Dry hair, Feeding difficulties in infancy, Congenital contracture, Progressive gait ataxia, Gastr... |
ORPHA:191 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Lower limb spasticity, Ataxia, Scarring, Cryptorchidism, Flexion contracture, Gait ... |
ORPHA:90322 |
Monosomy 13Q34 |
|
Metrorrhagia, Hypercalcemia, Insulin resistance, Obesity, Hematochezia, Horizontal eyebrow, Hepat... |
ORPHA:96168 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Hepatomegaly, Abnormal peritoneum morphology, Neoplasm of the pancreas, Cach... |
ORPHA:83469 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:99949 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... |
OMIM:261640 |
Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Generalized lipodystrophy, Panniculitis |
OMIM:619183 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis... |
OMIM:201475 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity |
ORPHA:542310 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Inguinal hernia, Brittle hair, Increased iduronate sulfatase level, Increased serum... |
OMIM:252500 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
Small Bowel Atresia |
|
Abnormal vascular morphology, Abdominal distention, Feeding difficulties, Vomiting, Failure to th... |
ORPHA:1201 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Gait disturbance, Flexion contracture, Small for gestational age, Protuberant abdomen |
OMIM:613330 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Abdominal distention, Secretory diarrhea, Hypochloremia, Hyperactive renin-angioten... |
OMIM:214700 |
Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Slurred speech, Dysmetria, Myoclonus, ... |
OMIM:256550 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly... |
OMIM:617093 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Absent brainstem auditory responses, Lower limb spas... |
ORPHA:90321 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Splenomegaly, Optic atrophy, Hyperam... |
ORPHA:79312 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... |
OMIM:612438 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Mohr-Tranebjaerg Syndrome |
|
Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnorm... |
ORPHA:52368 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Chorea, Hepatomegaly, Micronodular cirrhosis, Corneal scarring,... |
ORPHA:404454 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal p... |
OMIM:614298 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Tongue fasciculations, Decreased liver function, Myoclonus, Hepatic steatosis, Cere... |
OMIM:614922 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Hypospadias, Large for gestational age, Cryptorchidism, Gait disturbance, Protuberant... |
ORPHA:457485 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Primary Effusion Lymphoma |
|
Abnormal peritoneum morphology, Abdominal distention, Abdominal pain |
ORPHA:48686 |
Cockayne Syndrome A |
|
Hip contracture, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, De... |
OMIM:216400 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Hepatic steatosis, Hypoketoti... |
OMIM:231530 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Absent eyebrow, Abdominal distention, Hepatitis, Bloody diarrhea, Hypoplasia of the ... |
ORPHA:436252 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated alkaline phosphatase of bone origin, Hypophosphatemia, Elevated circulating parathyroid ... |
ORPHA:289157 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Ataxia, Splenomegaly, Myoclonus, Decreased body weight, Spastic paraparesis |
OMIM:231000 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Vomiting, Ischemic stroke, Hyperglycemia, Left ventricular hypertrophy, Hype... |
ORPHA:90065 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Thick eyebrow, Splenomegaly, Flexion contracture, Coarse hair, Neurodegeneration, R... |
OMIM:253220 |
Trichohepatoneurodevelopmental Syndrome |
|
Synophrys, Coarse hair, Gastroesophageal reflux, Thoracic hypertrichosis, Hypothyroidism, Hepatom... |
OMIM:618268 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy |
ORPHA:2821 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Abdominal distention, Spasti... |
OMIM:619423 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Congenital Macroglossia |
|
Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Consti... |
ORPHA:168816 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu... |
OMIM:300972 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysme... |
OMIM:614381 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia, Abdominal pain, Abdominal distention, Diarrhea, Vomiting, Hemiplegia, Increased circula... |
ORPHA:93552 |
Hereditary Spherocytosis |
|
Hepatomegaly, Ataxia, Abdominal pain, Abdominal distention, Splenomegaly, Jaundice, Hyperbilirubi... |
ORPHA:822 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Hepatic fibros... |
ORPHA:541423 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Synophrys, Flexion contracture, Abnormal pyramidal sign, Coarse hair, Hypertonia, L... |
ORPHA:581 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Limb pain, Tip-toe gait, Gait disturbance |
ORPHA:512 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Poor appetite, Feeding difficulties in infancy, Cerebellar hemorrhage... |
OMIM:606054 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Inguinal hernia, Large for gestational age, Protuberant abdomen, Umbilical hernia, Enlarged kidney |
OMIM:618272 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Ataxia, P... |
OMIM:203700 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Hypoglycemia, Tremor, Spastic tetraplegia, ... |
OMIM:617710 |
Galactosemia I |
|
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... |
OMIM:230400 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Gastrojejunal tube feeding in infancy, Gastrointestinal dysmotility, Axonal deg... |
ORPHA:478029 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Cholestasis, Cerebral atrophy, Porta... |
OMIM:614300 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Babinski sign, Cholestasis, Tip-toe gait, Left ... |
ORPHA:746 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Cardiomegaly, Babinski sign, Unsteady gait, Limb ataxia, Gait ataxia,... |
OMIM:619259 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Limb ataxia, Gait ataxia... |
OMIM:606002 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Scarring alop... |
ORPHA:59303 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomegaly, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadism, Portal ... |
ORPHA:465508 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Feeding difficulties, D... |
OMIM:616811 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Cryptorchidism, Tetralogy of Fallot, Abnormal aortic morphology,... |
ORPHA:1166 |
Schimke Immunoosseous Dysplasia |
|
Waddling gait, Small for gestational age, Transient ischemic attack, Bilateral cryptorchidism, El... |
OMIM:242900 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer... |
OMIM:619518 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Elevated circulating creatine ki... |
OMIM:614576 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Brittle hair, Small for gestational age, Decreased serum iron, Diarrhea, Chronic di... |
OMIM:614602 |
Hutchinson-Gilford Progeria Syndrome |
|
Intracranial hemorrhage, Dystrophic fingernails, Absent eyebrow, Insulin resistance, Absence of s... |
ORPHA:740 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Gracile Syndrome |
|
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
Cockayne Syndrome B |
|
Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve con... |
OMIM:133540 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Abdo... |
ORPHA:567983 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Feeding difficulties in infancy, Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferas... |
OMIM:614866 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Spastic tetraparesis... |
OMIM:614924 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis, Hypoketotic hypo... |
ORPHA:228305 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Spastic tetraparesis, Flexion contractur... |
OMIM:614098 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ... |
OMIM:608836 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, J... |
ORPHA:521219 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Ataxia, Clonus, Premature thelarche, Hypoglycemia, Poor coordinati... |
OMIM:616878 |
African Trypanosomiasis |
|
Tremor, Impaired proprioception, Choreoathetosis, Vomiting, Nausea, Hepatomegaly, Alopecia, Papil... |
ORPHA:3385 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Neurodegenerati... |
ORPHA:79244 |
Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Feeding difficulties in infancy, Sparse eyebrow, Coarctation of aorta, Hypopla... |
OMIM:244450 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Glucose intolerance, Abn... |
ORPHA:254892 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab... |
ORPHA:103910 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... |
OMIM:615842 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:329178 |
Diarrhea 12, With Microvillus Atrophy |
|
Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting |
OMIM:619445 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Inability to walk, Optic atrophy, Tip-toe gait, ... |
ORPHA:99956 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis, Neonatal hypoglycemia |
OMIM:212138 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradyk... |
OMIM:137440 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, GM2-ganglioside accumulati... |
OMIM:272750 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic hypotension, Hypoglycemia, Diarrhea, Insulin resistance, Elevated circulating creatin... |
ORPHA:230 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Portal hypertension, Rigidity, Splenomegal... |
ORPHA:309854 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Failure to thrive, Hepatic steatosis, Pancreatitis |
OMIM:236200 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Ataxia, Portal hypertension, Tremor... |
ORPHA:1454 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... |
OMIM:618060 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Type II ... |
OMIM:616860 |
East Syndrome |
|
Peripheral axonal neuropathy, Ataxia, Inability to walk, Peripheral hypomyelination, Difficulty w... |
ORPHA:199343 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Prominent superficial veins, Lipoatrophy, Sparse eyelashes, Decrease... |
OMIM:614008 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Abdominal distention, Enlarged kidney |
OMIM:613885 |
Adrenoleukodystrophy |
|
Incoordination, Paraparesis, Spastic paraplegia, Primary adrenal insufficiency, Slurred speech, L... |
OMIM:300100 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Diarrhe... |
OMIM:235555 |
Hurler Syndrome |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Flexion contracture, Hepatosplenomegaly, Neurodegene... |
OMIM:607014 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Abdominal distention, Extrahepatic cholestasis, Episodic abdomi... |
ORPHA:100086 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Corpus callosum atrophy, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar par... |
OMIM:616586 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Failure to thrive, Hypoglycemia, Opisthotonus |
OMIM:210200 |
Xeroderma Pigmentosum, Complementation Group F |
|
Ataxia, Tremor, Flexion contracture, Brain atrophy, Decreased body weight |
OMIM:278760 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concentration, Carotid a... |
OMIM:210250 |
Chediak-Higashi Syndrome |
|
Decreased nerve conduction velocity, Ataxia, Gait disturbance |
OMIM:214500 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... |
OMIM:615630 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... |
ORPHA:453533 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Joint laxity, Broad-based gait, Osteomyelitis, Ataxia, Delayed myelination, Neurofibroma, Multifo... |
OMIM:619475 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention, Difficulty walking |
OMIM:619345 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Somatic sensory dysfunction, Transient ischemic attack, Cholangiti... |
ORPHA:3260 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism,... |
OMIM:620327 |
Glutaric Acidemia I |
|
Choreoathetosis, Symmetrical progressive peripheral demyelination, Delayed myelination |
OMIM:231670 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Nephrogenic diabetes insipidus... |
OMIM:613404 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Poor appetite, ... |
ORPHA:96182 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Chorea, Babinski sign, Cerebral atrophy, Dysmetria, Gait ataxia, Bradykinesia... |
OMIM:610217 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spast... |
ORPHA:529665 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... |
ORPHA:2137 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Inability to walk, Flexion contracture, Macrovesicular hepatic steato... |
OMIM:617303 |
Holoprosencephaly |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Feeding difficulties in infancy, Abnormalit... |
ORPHA:2162 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Dpagt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Ataxia, Akinesia, Tremor, Inability t... |
ORPHA:86309 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Cardiomegaly, Tremor, Abnormal pyramidal sign, Hypertonia, Micropeni... |
ORPHA:51 |
Developmental And Epileptic Encephalopathy 95 |
|
Cerebellar atrophy, Hepatomegaly, Inguinal hernia, Multiple joint contractures, Ataxia, Highly ar... |
OMIM:618143 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulati... |
ORPHA:26791 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Elevated circulating growth hormone concentration, Anorexia, Poor appetite, Bowel u... |
ORPHA:97287 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Diarr... |
OMIM:600955 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated circulating creatine kinase concentration, An... |
ORPHA:732 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Papilledema, Hypercholesterolemia, Bilateral cryptorchidism, Obesi... |
OMIM:619471 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Dystonia, Ataxia, Fetal ascites, Splenomegaly, Gait... |
OMIM:257220 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Neonatal insuli... |
ORPHA:1667 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Hepatomegaly, Ataxia, Abnormal eyelash morphology, Silver-gray hair,... |
ORPHA:381 |
Pmm2-Cdg |
|
Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concentration, Intr... |
ORPHA:79318 |
Volvulus Of Midgut |
|
Abdominal distention, Constipation, Neonatal intestinal obstruction |
OMIM:193250 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Acute demyelinating polyneuropat... |
ORPHA:79138 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:26793 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Flexion cont... |
ORPHA:367 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Hepatic periportal necrosis, Hepatic steatosis |
OMIM:231680 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Stiff neck, Facial palsy, Paucity of anterior horn mot... |
ORPHA:79139 |
Adrenomyodystrophy |
|
Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency |
ORPHA:977 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... |
ORPHA:90796 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Peripheral demyelination, Ataxia, Severe demyelination of the white matter |
ORPHA:79282 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Optic atrophy, Abnormal myelination |
ORPHA:352682 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... |
OMIM:615486 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia, Neuronal loss in c... |
ORPHA:683 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, I... |
OMIM:215600 |
D-Bifunctional Protein Deficiency |
|
Decreased nerve conduction velocity, Osteopenia, Delayed skeletal maturation, Cerebral dysmyelina... |
OMIM:261515 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Ataxia, Congenital diaphragmatic hernia, Unsteady gait, Neurodegeneration, Jo... |
OMIM:615919 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosi... |
ORPHA:348 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Cerebellar atrophy, Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrove... |
OMIM:618329 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Cholangitis, Hypoglycemia, Microvesicu... |
OMIM:124000 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Renal artery aneurysm, Ataxia, Elevated circulating ... |
OMIM:615688 |
Amish Nemaline Myopathy |
|
Tremor, Hip contracture, Shoulder flexion contracture |
ORPHA:98902 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, Hypothyroidism, Ataxia |
ORPHA:2479 |
Cog5-Cdg |
|
Cerebellar atrophy, Hepatomegaly, Diffuse cerebral atrophy, Elevated hepatic transaminase, Campto... |
ORPHA:263487 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Malnutrition, Steatorrhea, Failure to thrive, Exocrine panc... |
OMIM:612714 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Inguinal hernia, Slow-growing hair, Short nail, Malformation of the hepatic ductal ... |
OMIM:218330 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Ascites, Hypoalbuminemia |
OMIM:603278 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Panniculitis, Weight loss |
ORPHA:33577 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Elevated ... |
ORPHA:565612 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Decreased fertility, Testicular atrophy, Fasciculations |
OMIM:313200 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Abnormal myelination |
ORPHA:85179 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Ataxia,... |
ORPHA:20 |
Dubowitz Syndrome |
|
Sparse scalp hair, Inguinal hernia, Hypospadias, Feeding difficulties in infancy, Cryptorchidism,... |
OMIM:223370 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Splenomegaly, Hepatomegaly, Neurodegeneration |
OMIM:620210 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Ataxia, Glycosuria, Decreased liver function, Increased intramyocellular lipid drop... |
OMIM:220110 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Mildly elevated creatine kinase |
ORPHA:681 |
Hyperlysinemia |
|
Tremor, Dysmetria, Opisthotonus, Pulmonary artery hypoplasia, Gastroesophageal reflux, Vomiting, ... |
ORPHA:2203 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Hepatomegaly, Limb joint contracture, Ataxia, Postural tremor, Splenomegaly, ... |
OMIM:301072 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Reduced beta-hexosaminidase ... |
OMIM:268800 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Hypergonadotropic hypogonadism, Ataxia, Tremor, Myo... |
OMIM:607426 |
Giant Cell Arteritis |
|
Alopecia, Ataxia, Anorexia, Abdominal pain, Vasculitis, Optic atrophy, Weight loss, Hyperhidrosis... |
ORPHA:397 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Female hypogonadism, Ataxia, Elevated circulating alpha-fetoprotein concentrat... |
OMIM:208900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Tremor, Microvesicular hepatic steatosis, Low anterior hairline, Dysmetria, Vomiting, Gliosis, Hy... |
OMIM:220111 |
Ovarian Fibroma |
|
Mesenteric cyst, Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Gonadal calc... |
ORPHA:314473 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss, Ascites |
ORPHA:168811 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abdominal distention, Protuberant abdomen |
OMIM:277300 |
Transaldolase Deficiency |
|
Hepatomegaly, Small for gestational age, Splenomegaly, Synophrys, Micronodular cirrhosis, Patent ... |
OMIM:606003 |
Familial Visceral Myopathy |
|
Hyperparathyroidism, Aganglionic megacolon, Camptodactyly of finger, Abdominal distention, Abdomi... |
ORPHA:2604 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers |
ORPHA:64752 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Ataxia, Myoclonus, Type I diabetes mellitus, Failure to thrive |
OMIM:560000 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Feeding difficulties in infancy, Abdominal distention, Patent duct... |
OMIM:300048 |
Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Joint stiffness |
ORPHA:585 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Prominent superficial veins, Anomalous branches of internal carotid ... |
ORPHA:363705 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Neuronal loss in central ... |
OMIM:168600 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas... |
ORPHA:309246 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Copper accumulation in liver, Cerebral atrophy, Myo... |
OMIM:614946 |
Malignant Migrating Focal Seizures Of Infancy |
|
Aortopulmonary collateral arteries, Precocious puberty, Inability to walk, Cerebral atrophy, Hype... |
ORPHA:293181 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia |
OMIM:175700 |
Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Hepatomegaly, Inguinal hernia, Corpus callosum atrophy, Splenomegaly, Babinsk... |
OMIM:248500 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Segmental peripheral demyelination/remyelination, Optic atrophy, Gait ataxia, Demyelinati... |
ORPHA:255210 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Mucolipidosis Type Ii |
|
Hip contracture, Inguinal hernia, Dry hair, Splenomegaly, Inability to walk, White hair, Knee fle... |
ORPHA:576 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Gastrointestinal hemorrhage, Intestinal obstruction, Decreased HDL cholesterol concent... |
ORPHA:85450 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Inabil... |
OMIM:617988 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Colitis, Steatorrhea, Exocrine pancr... |
ORPHA:309031 |
Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch, Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Axonal loss, Peripheral demyelination |
OMIM:252160 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypercalcemia, Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnu... |
ORPHA:35710 |
Diaphanospondylodysostosis |
|
Inguinal hernia, Abnormal liver lobulation, Protuberant abdomen, Enlarged kidney, Hypoplastic fin... |
OMIM:608022 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Clonus, Feeding difficulties in infancy, Gastroesophageal ref... |
ORPHA:534 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Axonal loss, Peripheral demyelination |
OMIM:252150 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Lipodystrophy, Paralysis, Abnormal eyelash morphology, Rigidity, Cerebral atrophy, Coar... |
ORPHA:2396 |
Angioedema, Hereditary, 1 |
|
Peripheral axonal neuropathy, Abdominal pain, Hypoesthesia, Diarrhea, Axonal degeneration, Vomiting |
OMIM:106100 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Tremor, Cryptorchidism, Jaundice, Flexion contracture, Hypertonia,... |
OMIM:608093 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomega... |
OMIM:610199 |
Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Hepatomegaly, Lower limb spasticity, Spastic tetraparesis, Hypothyroidism, Sp... |
OMIM:615846 |
Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatome... |
ORPHA:30391 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Nonketotic hypoglycemia, Elevated hepatic transaminase, Failure to thrive,... |
ORPHA:99901 |
Angelman Syndrome |
|
Optic disc pallor, Broad-based gait, Precocious puberty in females, Ataxia, Gastrostomy tube feed... |
ORPHA:72 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Pyruvate Carboxylase Deficiency |
|
Anorexia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Vomiting, Hyperglycemia, Basal gan... |
ORPHA:3008 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... |
OMIM:168605 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Peripheral axonal neuropathy, Ataxia, Cardiomegaly, Tremor, Diarrhea, Abnormal pyramidal sign, Li... |
OMIM:105210 |
Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom... |
ORPHA:64739 |
Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:300842 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Clonus, Abnormal pyramidal sign, Abnormal circulating citrulline concentration, Impaired vibrator... |
ORPHA:415 |
Cap Polyposis |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Constipation |
ORPHA:160148 |
Castleman Disease |
|
Nausea and vomiting, Intestinal obstruction, Abdominal mass, Elevated circulating C-reactive prot... |
ORPHA:160 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaun... |
ORPHA:231222 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Anomalous pulmonary venous return, Persistent lef... |
ORPHA:244 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-toe gait, Gait disturbance |
ORPHA:83629 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Thyroid agenesis, Feeding difficulties in infancy, Abd... |
OMIM:218700 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Ambiguous genitalia, Splenomegaly, Patent ductus arte... |
OMIM:269860 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Vomiting, Hepatic fibrosis, Intrahepatic bile duct dil... |
OMIM:301068 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation |
ORPHA:168829 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Abdominal distention, Chronic diarrhea, Cholestasis, Hemiparesis, Gastroesophageal ... |
OMIM:620233 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Impaired vibratory sensation, Abnormal circulating enzyme concentration or activity, Inguinal her... |
ORPHA:1900 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Biotinidase Deficiency |
|
Hepatomegaly, Alopecia, Diffuse cerebral atrophy, Ataxia, Feeding difficulties in infancy, Spleno... |
OMIM:253260 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, He... |
ORPHA:699 |
Niemann-Pick Disease Type C |
|
Fetal ascites, Tremor, Chorea, Abnormal pyramidal sign, Abnormality of the liver, Progressive gai... |
ORPHA:646 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Elevated circulating creatine kinase concentration, Scarring alopecia of scalp, Abdominal distent... |
ORPHA:158684 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Hypoplasia of penis, Femoral hernia, Highly arched eyebrow, Cryptorchidism, Syno... |
ORPHA:96147 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia |
OMIM:611126 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Increased circulating cortisol level |
OMIM:615954 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Abnormal myelination, EEG with multifocal slow activity |
ORPHA:289266 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... |
OMIM:602481 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Vaginal neoplasm, Reduced C-peptide le... |
ORPHA:2126 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... |
OMIM:234200 |
Fg Syndrome Type 1 |
|
Inguinal hernia, Broad-based gait, Progressive flexion contractures, Optic nerve hypoplasia, Hypo... |
ORPHA:93932 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Ataxia, Tremor, Cerebral atrophy, Hypothyroidism, Testicul... |
OMIM:222300 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Dry hair, Brittle hair, Ataxia, Elevated circulating aspartate aminotransferase con... |
OMIM:207900 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Inguinal hernia, Small for gestational age, Hyp... |
OMIM:613658 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Inguinal hernia, Protuberant abdomen |
OMIM:184250 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
Thyroid Hypoplasia |
|
Abdominal distention, Jaundice, Constipation, Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Decreased nerve conduction velocity, Limitation of joint mobility, Optic atrophy, Ab... |
ORPHA:580 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Rigidity, Splenomegaly, Cerebral atrophy, Feeding difficulties, Hypertonia, Gastroe... |
OMIM:230900 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Small for gestational age, Abnormal corona... |
ORPHA:860 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Macroorchidism, Male infertility, Oligozoospermia |
ORPHA:3000 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Gastroesophageal reflux, Hypothyroidism, Alopeci... |
OMIM:619472 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypogonadotropic hypogonadis... |
ORPHA:478 |
Supranuclear Palsy, Progressive, 1 |
|
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral... |
OMIM:601104 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Feeding difficulties in infancy... |
ORPHA:365 |
Dend Syndrome |
|
Hyperglycemia, Hypsarrhythmia |
ORPHA:79134 |
Neuroendocrine Neoplasm Of Appendix |
|
Nausea and vomiting, Hepatomegaly, Abdominal colic, Elevated hepatic transaminase, Functional int... |
ORPHA:100079 |
Colonic Atresia |
|
Omphalocele, Abdominal distention, Abnormal mesentery morphology, Abdominal situs inversus |
ORPHA:1198 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gastrointestinal dysmotility, Gonadotropin... |
ORPHA:293987 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Vomiting, ... |
ORPHA:91347 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Hepatomegaly, Lower limb spasticity, Large for gestational age, Microvesicular h... |
OMIM:300868 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
Congenital Disorder Of Deglycosylation 1 |
|
Oral-pharyngeal dysphagia, Chorea, Dysmetria, Hyperhidrosis, Hepatic fibrosis, Gliosis, Hepatomeg... |
OMIM:615273 |
Cystic Echinococcosis |
|
Abdominal symptom, Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, H... |
ORPHA:400 |
Dyggve-Melchior-Clausen Disease |
|
Abnormal circulating enzyme concentration or activity, Spastic tetraparesis, Inability to walk, D... |
ORPHA:239 |
Thyroid Ectopia |
|
Abnormality of the thyroid gland, Abdominal distention, Jaundice, Constipation, Ectopic thyroid, ... |
ORPHA:95712 |
Cockayne Syndrome Type 3 |
|
Dry hair, Flexion contracture, Premature graying of hair, Gastroesophageal reflux, Intention trem... |
ORPHA:90324 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Trichohepatoenteric Syndrome 1 |
|
Brittle hair, Hypoalbuminemia, Hepatic fibrosis, Sparse hair, Intractable diarrhea, Hepatomegaly,... |
OMIM:222470 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... |
OMIM:616433 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Increased circulating lactate dehydrogenase concentration, Hypercholesterolemi... |
OMIM:309000 |
Syndromic Diarrhea |
|
Brittle hair, Bloody diarrhea, Abnormality of the liver, Colitis, Hypoplasia of the thymus, Hepat... |
ORPHA:84064 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Tetraplegia, Hepatocellular necrosi... |
OMIM:618278 |
Camurati-Engelmann Disease |
|
Waddling gait, Hepatomegaly, Ataxia, Facial palsy, Anorexia, Cachexia, Feeding difficulties in in... |
ORPHA:1328 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Neurode... |
OMIM:618321 |
Caroli Disease |
|
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Vomiting, Hepatic fibrosis, ... |
ORPHA:53035 |
Fibrochondrogenesis 1 |
|
Omphalocele, Hypoplastic toenails, Stillbirth, Protuberant abdomen, Camptodactyly, Joint contract... |
OMIM:228520 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Inguinal hernia, Gastroparesis, Small for gestational age, Ataxia, Hypospadias, Tremor, Cryptorch... |
OMIM:614052 |
Atelis Syndrome 2 |
|
Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormone concentration, Hyperin... |
OMIM:620185 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Papilledema, Premature thelarche, Coarctation of aorta, Polycystic ovaries, Type I d... |
ORPHA:371428 |
Poliomyelitis |
|
Inability to walk, Stiff neck, Abnormal motor nerve conduction velocity |
ORPHA:2912 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Small for gestational age, Abdominal pain, Tremor, Abnormality of ... |
ORPHA:69665 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Abnormal circulating enzyme concentration or activity, Pallidal degeneration, Dyst... |
ORPHA:25 |
Transaldolase Deficiency |
|
Coarctation of aorta, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Abnormali... |
ORPHA:101028 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Decreased number of small peripheral myelinated nerve fibers, Postural hypotension with compensat... |
OMIM:256800 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Argininemia |
|
Cerebellar atrophy, Hepatomegaly, Micronodular cirrhosis, Cholestasis, Progressive spastic quadri... |
OMIM:207800 |
Secondary Intestinal Lymphangiectasia |
|
Abdominal colic, Intestinal obstruction, Reduced circulating transferrin concentration, Chronic d... |
ORPHA:90363 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Large for gestational age, Gait ataxia, Sparse hair, Hepatomegaly, Elevated circulating aspartate... |
OMIM:280000 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Impotence, Neurodegeneration |
OMIM:146500 |
Choreoacanthocytosis |
|
Caudate atrophy, Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Limb dys... |
ORPHA:2388 |
Joubert Syndrome 8 |
|
Hepatomegaly, Ataxia, Obesity, Hypertonia, Prolonged neonatal jaundice, Oculomotor apraxia |
OMIM:612291 |
Lowry-Maclean Syndrome |
|
Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Bilateral cryptorchidism, Abnormal... |
ORPHA:2409 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... |
OMIM:619525 |
Bloom Syndrome |
|
Small for gestational age, Decreased fertility in females, Cryptorchidism, Azoospermia, Type II d... |
OMIM:210900 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Tenorio Syndrome |
|
Cerebral palsy, Hypoglycemia, Clumsiness, Gastroesophageal reflux, Gait disturbance, Cerebral cor... |
OMIM:616260 |
Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Mildly elevated creatine kinase, Tremor, Abnormality of peripheral ne... |
ORPHA:79102 |
Schneckenbecken Dysplasia |
|
Umbilical hernia, Stillbirth, Protuberant abdomen |
OMIM:269250 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Fetal ascites, Ascending aorta hypoplasia,... |
OMIM:619503 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata... |
OMIM:618056 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration, Coronary artery... |
ORPHA:439232 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Flexion contracture, Hepatosplenomegaly, Neurodegene... |
OMIM:309900 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Tremor, Babinski sign, Glucose intolerance, Glycosuria, Hypertonia, Cirrhosis, Brain atrophy, Spa... |
OMIM:616539 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Jaundi... |
ORPHA:677 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Gastroparesis, Abdominal pain, Abdominal distention, Malnutrition, Vascular dilatation |
OMIM:277320 |
Letterer-Siwe Disease |
|
Abdominal distention, Jaundice, Hepatosplenomegaly |
OMIM:246400 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Hypospadias, Bowel incontinence, Highly arched eyebrow, Supernumerary nipple... |
ORPHA:261494 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge... |
OMIM:557000 |
Hurler Syndrome |
|
Abnormal nerve conduction velocity, Limitation of joint mobility, Camptodactyly of finger |
ORPHA:93473 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Splenomegaly, Abdominal distention, Hepatomegaly |
OMIM:602557 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Triosephosphate Isomerase Deficiency |
|
Dystonia, Tremor, Splenomegaly, Jaundice, Unsteady gait, Cerebral atrophy, Cholecystitis, Prolong... |
OMIM:615512 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Bowel urgency, Abdominal pain, Lack of bow... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Bowel urgency, Abdominal pain, Lack of bow... |
ORPHA:100082 |
2Q37 Microdeletion Syndrome |
|
Sparse scalp hair, Highly arched eyebrow, Supernumerary nipple, Sparse eyebrow, Congenital diaphr... |
ORPHA:1001 |
Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Abnormal CNS myelination, Steatorrhea |
ORPHA:440713 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Hyperlipidemia, Intracranial hemorrhage, Menorrhagia, Hyperuricemia |
ORPHA:35909 |
Meckel Syndrome 14 |
|
Abdominal distention, Hepatic fibrosis, Aplasia of the uterus, Protuberant abdomen, Ambiguous gen... |
OMIM:619879 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Appendicular spasticity, Inability to walk, Cryptorchidism, Cerebral atrophy, Coarctation of aort... |
OMIM:618494 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Feeding difficulties, Long eyelashes |
OMIM:615502 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Secretory diarrhea, Coarctation of aorta, Long eyelashes, Vomiting, Failure to thrive |
OMIM:616069 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Abnormal aortic morphology, Ataxia, Hyperuricemia |
ORPHA:3222 |
Alexander Disease |
|
Nausea and vomiting, Diabetes mellitus, Ataxia, Facial palsy, Bowel incontinence, Clonus, Precoci... |
ORPHA:58 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... |
OMIM:619377 |
Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention, Cachexia |
ORPHA:1876 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre... |
ORPHA:90797 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia |
OMIM:615453 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, In... |
OMIM:110100 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Coronary artery ather... |
OMIM:144010 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated a... |
ORPHA:171 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Aortopulmonary collateral arteries, Sparse eyebrow, Cryptorchidism, Tremor, Feedin... |
OMIM:617557 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Pulmonary... |
ORPHA:251071 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Elevated hepatic transaminase, Abnormal penis morphology, Vaginal dryness, Anorexia, Oral-pharyng... |
ORPHA:95455 |
Rubinstein-Taybi Syndrome 1 |
|
Premature thelarche, Feeding difficulties in infancy, Bilateral cryptorchidism, Flexion contractu... |
OMIM:180849 |
Platyspondylic Dysplasia, Torrance Type |
|
Abdominal distention |
ORPHA:85166 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Coarctation of aorta, Dysphagia, Anterior hypopituitarism, Central diabetes i... |
ORPHA:280195 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Protuberant abdomen |
OMIM:617102 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Omphalocele, Hepatomegaly, Interphalangeal joint contracture of finger, External genital hypoplas... |
ORPHA:96334 |
Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Hepatomegaly, Elevated hepatic transaminase, Anorexia, Poor appetite, Bowel ... |
ORPHA:100075 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Hypospadias, Flexion contracture, Feeding difficulties, Small pituitary gland, Protuberant abdome... |
OMIM:619479 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestation... |
OMIM:616026 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia... |
ORPHA:93111 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity |
ORPHA:803 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention, Hepatosplenomegaly |
ORPHA:93352 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Thoracic aortic aneurysm, Elevated circulating C-reactive protein concent... |
ORPHA:449400 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Ataxia, Aganglionic megacolo... |
ORPHA:163746 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Inguinal hernia, Dry hair, Sparse scalp hair, Failure to thrive, Cryptorchidism, ... |
OMIM:601358 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Failu... |
OMIM:229600 |
Fryns Syndrome |
|
Omphalocele, Aganglionic megacolon, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism,... |
ORPHA:2059 |
Cerebral Visual Impairment |
|
Cerebral palsy, Clumsiness, Central nervous system degeneration, Neurodegeneration, Oculomotor ap... |
ORPHA:447788 |
Scorpion Envenomation |
|
Acute pancreatitis, Increased circulating NT-proBNP concentration, Ataxia, Elevated circulating a... |
ORPHA:466677 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Male infertility |
OMIM:618948 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Paralytic ileus, Hypophosphatemic rickets, Hepatomegaly, Periodic paralysi... |
OMIM:276700 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Dysdiadochokinesis, Peripheral hypomyelination, Ataxia, Chronic axonal neuropathy |
OMIM:612780 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Hepatic steatosis, Decreased tes... |
OMIM:619321 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Abdominal situs ambiguus, Immotile sperm |
OMIM:614874 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Diabetic Embryopathy |
|
Abnormality of the pancreas, Cryptorchidism, Tetralogy of Fallot, Abnormal morphology of female i... |
ORPHA:1926 |
Homozygous Familial Hypercholesterolemia |
|
Optic neuropathy, Precocious atherosclerosis, Abnormal internal carotid artery morphology, Hyperl... |
ORPHA:391665 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Slow-growing hair, Optic nerve hypoplasia, Highly arched eyebrow, Feeding difficultie... |
OMIM:617506 |
Ogden Syndrome |
|
Inguinal hernia, Torticollis, Maternal diabetes, Cardiomegaly, Microvesicular hepatic steatosis, ... |
OMIM:300855 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Coar... |
OMIM:617602 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Abdominal distention, Optic disc coloboma, Secretory diarrhea, Rectovaginal fistula |
OMIM:270420 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Nausea and vomiting, Hypoperistalsis, Abdominal distention, Cryptorchidism, Umbilica... |
ORPHA:2241 |
Pancreatic And Cerebellar Agenesis |
|
Hyperglycemia, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia |
OMIM:609069 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Protuberant abdomen |
OMIM:187600 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Inguinal hernia, Aortic dissection, Transient ischemic attack, Subarachnoid hemorrhage, Cardiomeg... |
ORPHA:91387 |
Fibrochondrogenesis 2 |
|
Protuberant abdomen |
OMIM:614524 |
Arima Syndrome |
|
Hepatomegaly, Ataxia, Hepatic fibrosis, Cirrhosis, Hepatic steatosis |
OMIM:243910 |
Arboleda-Tham Syndrome |
|
Dystonia, Highly arched eyebrow, Bilateral cryptorchidism, Patent ductus arteriosus, Optic atroph... |
OMIM:616268 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm |
OMIM:613807 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Tremor, Chorea, Hyperhidrosis, Vomiting, Hypo... |
ORPHA:94093 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Hypophosphatemic rickets, Male hypogonadism, Hyponatremia, Hepatomegal... |
OMIM:219800 |
1P36 Deletion Syndrome |
|
Hepatic steatosis, Camptodactyly of finger, Abnormality of the spleen, Hemiplegia/hemiparesis, Cr... |
ORPHA:1606 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Hypoperistalsis |
OMIM:619365 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Spasticity, Neuronal loss in central nervous system, Neurodegeneration |
OMIM:616239 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Small scrotum, Congenital diaphragmatic hernia, Highly arched eyebr... |
OMIM:618454 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending aortic dis... |
ORPHA:229 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal cerebral vascul... |
ORPHA:904 |
Fanconi Anemia |
|
Aganglionic megacolon, Hypospadias, Abnormal preputium morphology, Cryptorchidism, Patent ductus ... |
ORPHA:84 |
Myofibrillar Myopathy 11 |
|
Feeding difficulties in infancy, Overweight, Coarctation of aorta, Dysphagia |
OMIM:619178 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Abdominal distention, Enamel hypoplasia, Nail dystrophy |
ORPHA:79403 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Patent ductus arteriosus, Synophrys, Coarctation of aorta, Feeding difficulties, Constipation |
ORPHA:284169 |
Kanzaki Disease |
|
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment, L... |
OMIM:609242 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hepatocellular carcinoma, Hyperlipidemia, Xanth... |
OMIM:232240 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Gastroparesis, Aganglionic megacolon, Abdominal pain, Abdominal di... |
OMIM:155310 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Greenberg Dysplasia |
|
Hepatomegaly, Hepatic calcification, Hepatosplenomegaly, Stillbirth, Pancreatic islet-cell hyperp... |
OMIM:215140 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Inguinal hernia, Absent external genitalia, Abdominal distention, Aplasia of the vagina, Aplasia ... |
OMIM:271520 |
Kasabach-Merritt Syndrome |
|
Abdominal pain, Abdominal distention, Abnormal lymphatic vessel morphology, Hyperhidrosis, Hepati... |
ORPHA:2330 |
Acrocardiofacial Syndrome |
|
Hypoplasia of penis, Hyperthyroidism, Hypospadias, Camptodactyly of finger, Feeding difficulties ... |
ORPHA:2008 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Rigidity, Spastic tetraplegia, Neurodegeneration, Difficulty walking, Spasticity |
OMIM:618476 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Alopecia, Brittle hair, Ataxia, Abnormal dental enamel morphology,... |
ORPHA:2750 |
Gaucher Disease |
|
Hepatomegaly, Ataxia, Elevated circulating C-reactive protein concentration, Abdominal pain, Feed... |
ORPHA:355 |
Mosaic Trisomy 1 |
|
Omphalocele, Hepatic agenesis, Camptodactyly of finger, Congenital diaphragmatic hernia, Hypoplas... |
ORPHA:1692 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Diarrhea, Elevated circulating creatinine concentration, Hemiparesis, Increased b... |
OMIM:235400 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Hypermobile Ehlers-Danlos Syndrome |
|
Decreased nerve conduction velocity, Osteoarthritis, Limitation of joint mobility, Osteolysis, Jo... |
ORPHA:285 |
Digeorge Syndrome |
|
Hepatic steatosis, Inguinal hernia, Femoral hernia, Parathyroid agenesis, Decreased circulating p... |
OMIM:188400 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Stillbirth, Protuberant abdomen |
OMIM:151210 |
Galloway-Mowat Syndrome 3 |
|
Cerebellar atrophy, Hiatus hernia, Cerebral atrophy, Coarctation of aorta, Hypoalbuminemia, Campt... |
OMIM:617729 |
Esophageal Atresia |
|
Omphalocele, Small for gestational age, Failure to thrive in infancy, Maternal diabetes, Abnormal... |
ORPHA:1199 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Elevated gamma-glutamyltransferase... |
OMIM:243800 |
Ctcf-Related Neurodevelopmental Disorder |
|
Inguinal hernia, Small for gestational age, Highly arched eyebrow, Phimosis, Nasogastric tube fee... |
ORPHA:363611 |
Eisenmenger Syndrome |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Abdominal distention, Patent... |
ORPHA:97214 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Increased circulating gonadotropin level, Oligozoospermia, Azoo... |
ORPHA:8 |
Fabry Disease |
|
Nausea and vomiting, Transient ischemic attack, Anorexia, Abdominal pain, Hyperlipidemia, Optic a... |
ORPHA:324 |
Opitz Gbbb Syndrome |
|
Omphalocele, Bifid scrotum, Inguinal hernia, Enlarged ovaries, Hypospadias, Congenital diaphragma... |
ORPHA:2745 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Sparse scalp hair, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebro... |
OMIM:210710 |
Loeys-Dietz Syndrome 4 |
|
Inguinal hernia, Torticollis, Eosinophilic infiltration of the esophagus, Arterial tortuosity, As... |
OMIM:614816 |
Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus |
OMIM:615710 |
Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Meconium ileus, Diarrhea, Ileus, Biliary cirrhosis, Hepatosplenom... |
OMIM:219700 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Hepatomegaly, Splenomegaly, Jaundice, Loss of eyelashes, Corneal scarri... |
OMIM:263700 |
Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Hypoglycemia |
ORPHA:134 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tetralogy of Fallot, Double outlet right ventricle, Feeding difficulties, Coa... |
ORPHA:3426 |
Weill-Marchesani Syndrome 2 |
|
Patent ductus arteriosus, Elbow flexion contracture, Ascending aortic dissection, Protuberant abd... |
OMIM:608328 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Truncus arteriosus, Congenital diaphragmatic hernia, Cryptorchidism, Patent duct... |
OMIM:601186 |
Kabuki Syndrome 2 |
|
Highly arched eyebrow, Neonatal hypoglycemia, Feeding difficulties in infancy, Coarctation of aor... |
OMIM:300867 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Precocious puberty, Tremor, Choreoathetosis, Myoclo... |
ORPHA:1934 |
Kabuki Syndrome |
|
Hypoplasia of penis, Hypospadias, Highly arched eyebrow, Congenital diaphragmatic hernia, Precoci... |
ORPHA:2322 |
Atelosteogenesis Type Ii |
|
Elbow flexion contracture, Protuberant abdomen, Camptodactyly |
ORPHA:56304 |
Opsismodysplasia |
|
Protuberant abdomen, Hypophosphatemia |
OMIM:258480 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Patent ductus arteriosus, Optic atrophy, Double outlet right ventricle, Cerebral atrophy, Feeding... |
OMIM:618164 |
Bohring-Opitz Syndrome |
|
Flexion contracture, Delayed peripheral myelination, Camptodactyly |
OMIM:605039 |
Lymphatic Malformation 7 |
|
Abdominal distention, Ascites, Varicose veins |
OMIM:617300 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Hepatic steatosis, Joint contracture of the 5th finger |
OMIM:619934 |
Meacham Syndrome |
|
Accessory spleen, Aplasia of the right hemidiaphragm, Septate vagina, Patent ductus arteriosus, P... |
OMIM:608978 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal circulating enzyme concentration or activity, Inguinal hernia, Papilledema, Camptodactyl... |
ORPHA:217085 |
Fraser Syndrome 2 |
|
Ambiguous genitalia, Abdominal distention, Hypoplasia of the thymus, Low anterior hairline |
OMIM:617666 |
Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal circulating enzyme concentration or activity, Inguinal hernia, Papilledema, Camptodactyl... |
ORPHA:217093 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Abnormal aortic morphology |
ORPHA:2516 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Hypophosphatemic rickets, Alopecia, Coarctation of aorta |
OMIM:163200 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Precocious puberty, Cry... |
ORPHA:96191 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Abdominal pain, Hyperlipidemia, Hydrocele testis, Hypoalbuminemia, Ascites |
ORPHA:567546 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Titubation, Cerebral hypomyelination, Abnormal myelination |
ORPHA:280210 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Small for gestational age, Decreased response to growth hormone stimulation test, ... |
ORPHA:506358 |
Cocaine Intoxication |
|
Elevated circulating creatine kinase concentration, Cerebral hemorrhage, Abdominal pain, Subarach... |
ORPHA:90068 |
Sifrim-Hitz-Weiss Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Ga... |
OMIM:617159 |
Autosomal Recessive Robinow Syndrome |
|
Alopecia, Inguinal hernia, Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Abnormal... |
ORPHA:1507 |
Atrial Septal Defect 4 |
|
Coarctation of aorta |
OMIM:611363 |
Microvillus Inclusion Disease |
|
Abdominal distention, Diarrhea |
ORPHA:2290 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Abnormal myelination |
OMIM:617333 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... |
ORPHA:1209 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Abdominal pain, Retroperitoneal fibrosis, ... |
ORPHA:449395 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Calcinosis, Elevated hepatic transaminase, Splenomegal... |
OMIM:613471 |
Pagod Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Abnormality of the spleen, Optic atrophy, Abnormal ... |
ORPHA:991 |
Achondrogenesis, Type Ii |
|
Stillbirth, Protuberant abdomen |
OMIM:200610 |
Atelosteogenesis, Type I |
|
Neonatal death, Cryptorchidism, Stillbirth, Protuberant abdomen |
OMIM:108720 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Clonus, Tremor, Jaundice, Patent ductus arteriosus, Cerebral atrophy, Feeding difficult... |
OMIM:617248 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Laterally extended eyebrow, Highly arched eyebrow, Sparse eyebrow, High anterior hairline, Feedin... |
OMIM:600987 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Supernumerary nipple, Cryptorchidism, Synophrys, Coarctation of aorta, Low posterior hairline, Mi... |
OMIM:618929 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Neonatal hypoglycemia, Cardiomegaly, Adreno... |
OMIM:130650 |
Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele, Hepatomegaly, Cardiomegaly, Asplenia, Hypoplastic toenails, Patent ductus arteriosus... |
OMIM:306955 |
16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta |
ORPHA:261243 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Anomalous pulmonary venous return, Congenital diaphragmatic hernia, Coa... |
ORPHA:1120 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Patent ductus arteriosus, Abdominal distention, Peritonitis, Thoracic aortic aneurysm |
OMIM:619351 |
Distal Deletion 15Q |
|
Decreased serum insulin-like growth factor 1, Small for gestational age, Hypospadias, Congenital ... |
ORPHA:1596 |
Aorto-Ventricular Tunnel |
|
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... |
ORPHA:3400 |
Mullegama-Klein-Martinez Syndrome |
|
Facial palsy, Curly eyelashes, Congenital diaphragmatic hernia, Unsteady gait, Low anterior hairl... |
OMIM:301022 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Meckel Syndrome, Type 1 |
|
Omphalocele, Accessory spleen, Camptodactyly of finger, Adrenal hypoplasia, Malformation of the h... |
OMIM:249000 |
Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair, Coarctation of aorta, Cryptorchidism |
OMIM:616559 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased number of large peripheral myelinated nerve fibers, Orthostatic hypotension |
OMIM:223900 |
Sotos Syndrome |
|
Tremor, Flexion contracture, Gastroesophageal reflux, Hypothyroidism, Hypospadias, Cryptorchidism... |
ORPHA:821 |
Arterial Tortuosity Syndrome |
|
Inguinal hernia, Femoral hernia, Hiatus hernia, Pulmonary artery stenosis, Arterial stenosis, Aor... |
ORPHA:3342 |
Noonan Syndrome 2 |
|
Curly hair, Abnormal coronary artery origin, Sparse eyebrow, Cryptorchidism, Patent ductus arteri... |
OMIM:605275 |
Arterial Tortuosity Syndrome |
|
Inguinal hernia, Carotid artery dissection, Congenital diaphragmatic hernia, Hiatus hernia, Pulmo... |
OMIM:208050 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity |
OMIM:616166 |
Congenital Heart Defects, Multiple Types, 4 |
|
Tetralogy of Fallot, Coarctation of aorta |
OMIM:615779 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Aganglionic megacolon, Pulmonary artery sling, Supernumerary nipple, Hypospadias, ... |
OMIM:235730 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Hypoplasia of penis, Urethrovaginal fistula, Abdominal distention, Congenital hepati... |
ORPHA:93271 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Maturity-onset diabetes of the young, Tremor, Hy... |
ORPHA:1578 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Methimazole Embryofetopathy |
|
Hypospadias, Abnormality of the thyroid gland, Coarctation of aorta, Abnormal aortic morphology, ... |
ORPHA:1923 |
Achondrogenesis, Type Ia |
|
Stillbirth, Protuberant abdomen |
OMIM:200600 |
Lethal Kniest-Like Dysplasia |
|
Protuberant abdomen |
ORPHA:2347 |
Robinow Syndrome |
|
Small scrotum, Small for gestational age, External genital hypoplasia, Webbed penis, Cryptorchidi... |
ORPHA:97360 |
Myhre Syndrome |
|
Small for gestational age, Ataxia, Cryptorchidism, Patent ductus arteriosus, Obesity, Fine hair, ... |
OMIM:139210 |
Currarino Syndrome |
|
Septate vagina, Gastrointestinal obstruction, Abdominal distention, Chronic constipation, Bicornu... |
OMIM:176450 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Coarctation of ... |
OMIM:614114 |
Friedreich Ataxia 2 |
|
Diabetic ketoacidosis, Abnormality of peripheral nerve conduction |
OMIM:601992 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Abdominal situs inversus |
OMIM:619607 |
Meacham Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormality of the spleen, Patent ductus ar... |
ORPHA:3097 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
Osteogenesis Imperfecta |
|
Flexion contracture, Hyperhidrosis, Loss of ambulation, Ataxia, Abnormal dental enamel morphology... |
ORPHA:666 |
Hypoplastic Left Heart Syndrome 1 |
|
Coarctation of aorta |
OMIM:241550 |
Pseudotrisomy 13 Syndrome |
|
Omphalocele, Adrenal hypoplasia, Cryptorchidism, Coarctation of aorta, Bicornuate uterus, Micropenis |
OMIM:264480 |
Scimitar Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Descending aorta hypoplasia, ... |
ORPHA:185 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Ectopic posterior pituitary, Inguinal hernia, Small for gestational ... |
ORPHA:508488 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Orthostatic hypotension due to autonomic dysfunction, Osteomyelitis, Painless fractures due to in... |
ORPHA:642 |
Phaver Syndrome |
|
Pulmonary artery atresia, Hypoplastic aortic arch, Camptodactyly of finger, Coarctation of aorta |
ORPHA:2876 |
Jacobsen Syndrome |
|
Inguinal hernia, Feeding difficulties in infancy, Cryptorchidism, Cerebral atrophy, Coarctation o... |
ORPHA:2308 |
Right Atrial Isomerism |
|
Inguinal hernia, Aortopulmonary collateral arteries, Asplenia, Transposition of the great arterie... |
OMIM:208530 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Omphalocele, Pulmonary artery dilatation, Hypospadias, Asplenia, Patent ductus arteriosus, Pulmon... |
OMIM:265380 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria |
ORPHA:99885 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Aortic dissection, Atypical scarring of skin, Varicose veins, Atrophic scars, Camptodactyly, Vasc... |
OMIM:618343 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypospadias, Facial palsy, Optic nerve hypoplasia, Hypertrichosis, Feeding difficulties, Coarctat... |
ORPHA:508498 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Protuberant abdomen, Camptodactyly, Knee flexion contracture |
OMIM:618019 |
Holt-Oram Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Anomalous pulmonary venous return |
ORPHA:392 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Abdominal distention |
OMIM:619362 |
Neu-Laxova Syndrome 2 |
|
Protuberant abdomen |
OMIM:616038 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Patent ductus arteriosus, Coarctation of aorta, Hypogonadism, Mic... |
OMIM:300514 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Waddling gait, Inguinal hernia, Patent ductus arteriosus, Feeding difficulties, Aortic rupture, A... |
OMIM:614557 |
Blomstrand Lethal Chondrodysplasia |
|
Protuberant abdomen, Coarctation of aorta |
ORPHA:50945 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... |
ORPHA:672 |
Cardiac Diverticulum |
|
Omphalocele, Abnormal coronary artery origin, Patent ductus arteriosus, Pulmonary artery stenosis... |
ORPHA:1686 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Failure to thrive in infancy, Adrenal calcification, Elev... |
ORPHA:51608 |
Vascular Ehlers-Danlos Syndrome |
|
Gastrointestinal infarctions, Uterine rupture, Alopecia, Peripheral arteriovenous fistula, Hyposp... |
ORPHA:286 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Asplenia, Gastrointestinal dysmotility, Flexion contracture, Vomiting, Webbed peni... |
ORPHA:2152 |
Meester-Loeys Syndrome |
|
Aortic dissection, Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cere... |
OMIM:300989 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Optic nerve hypoplasia, Aortopulmonary collateral arteries, Cryptorchidism, Aortopu... |
OMIM:620025 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Frontal balding, Highly arched eyebrow, Tremor, Synophrys, Patent ductus arteriosus, Coarctation ... |
OMIM:612474 |
Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Stroke, Aortic dissection |
OMIM:135580 |
15Q11.2 Microdeletion Syndrome |
|
Ataxia, Poor coordination, Coarctation of aorta, Total anomalous pulmonary venous return, Tetralo... |
ORPHA:261183 |
Mosaic Trisomy 16 |
|
Small for gestational age, Hypospadias, Maternal diabetes, Nasogastric tube feeding in infancy, P... |
ORPHA:1708 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cerebellar atrophy, Cardiomegaly, Inability to walk, Feeding difficulties, Coarctation of aorta, ... |
OMIM:620066 |
Phace Association |
|
Anomalous branches of internal carotid artery, Optic nerve hypoplasia, Vascular dilatation, Paten... |
OMIM:606519 |
Noonan Syndrome 10 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Left ... |
OMIM:616564 |
Marfan Syndrome |
|
Inguinal hernia, Cachexia, Descending aortic dissection, Dilatation of an abdominal artery, Aorti... |
ORPHA:558 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Delayed peripheral myelination |
ORPHA:364577 |
Conotruncal Heart Malformations |
|
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... |
OMIM:217095 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hypospadias, Highly arched eyebrow, Trichiasis, Feeding difficulties in infancy, Nasogastric tube... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hypospadias, Highly arched eyebrow, Trichiasis, Feeding difficulties in infancy, Nasogastric tube... |
ORPHA:353277 |
Mosaic Variegated Aneuploidy Syndrome |
|
Vaginal neoplasm, Coarctation of aorta, Abnormal aortic morphology, Ambiguous genitalia, Ascites,... |
ORPHA:1052 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Floating-Harbor Syndrome |
|
Inguinal hernia, Hypospadias, Cryptorchidism, Glandular hypospadias, Low posterior hairline, Coar... |
OMIM:136140 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Feeding difficulties in infancy, Cryptorchidism, Sparse eyebrow, Patent du... |
ORPHA:3338 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Asplenia, Flexion contracture, Webbed penis, Micropenis, Abnormality of the pulmon... |
ORPHA:261537 |
You-Hoover-Fong Syndrome |
|
Ataxia, Coarctation of aorta, Vascular ring, Spasticity, Double aortic arch |
OMIM:616954 |
Monosomy 18Q |
|
Choreoathetosis, Abnormal myelination |
ORPHA:1600 |
Pallister-Killian Syndrome |
|
Small scrotum, Congenital diaphragmatic hernia, Flexion contracture, Camptodactyly of 2nd-5th fin... |
OMIM:601803 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Pilomatrixoma, Obesity, Coarctation of aor... |
ORPHA:353281 |
Leukocyte Adhesion Deficiency |
|
Peritonitis, Cerebral atrophy, Nail dystrophy, Hyperinsulinemic hypoglycemia, Vaginitis |
ORPHA:2968 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Asplenia, Flexion contracture, Webbed penis, Micropenis, Abnormality of the pulmon... |
ORPHA:261552 |
Noonan Syndrome 1 |
|
Male infertility, Failure to thrive in infancy, Hypospadias, Feeding difficulties in infancy, Cry... |
OMIM:163950 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology |
ORPHA:3405 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Facial palsy, Coarctation of aorta |
ORPHA:2780 |
Alport Syndrome |
|
Renal glomerular foam cells, Abnormal aortic morphology, Vomiting, Dysphagia, Clitoral hypertroph... |
ORPHA:63 |
Marfan Syndrome |
|
Reduced subcutaneous adipose tissue, Aortic dissection, Incisional hernia, Flexion contracture, A... |
OMIM:154700 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Abdominal aortic aneurysm, Eosinophilic infiltration of the esophagus... |
OMIM:613795 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta |
OMIM:212090 |
Floating-Harbor Syndrome |
|
Speech apraxia, Broad-based gait, Small for gestational age, Hypospadias, Precocious puberty, Cry... |
ORPHA:2044 |
Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Coarctation of aorta, Right aortic arch, Total anomalous pulmonary v... |
OMIM:613854 |
Partial Atrioventricular Septal Defect |
|
Transient ischemic attack, Patent ductus arteriosus, Anomalous pulmonary venous return, Coarctati... |
ORPHA:1330 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:2001 |
Catel-Manzke Syndrome |
|
Inguinal hernia, Overriding aorta, Cryptorchidism, Coarctation of aorta, Thin eyebrow, Camptodact... |
OMIM:616145 |
Fixed Subaortic Stenosis |
|
Cardiomegaly, Patent ductus arteriosus, Coarctation of aorta, Ascending tubular aorta aneurysm, L... |
ORPHA:3092 |
Primrose Syndrome |
|
Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Ataxia, Bilateral cryptorchid... |
OMIM:259050 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hyperglycemia, Diabetes mellitus, Glycosuria |
OMIM:600001 |
Mycophenolate Mofetil Embryopathy |
|
Hypoplastic toenails, Congenital diaphragmatic hernia, Coarctation of aorta |
ORPHA:268249 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hyperglycemia |
ORPHA:444077 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morphology, Tetralogy of Fallot, ... |
ORPHA:99050 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Coarctation of aorta, Feeding difficulties |
OMIM:217085 |
Atresia Of Urethra |
|
Abdominal distention, Ascites |
ORPHA:105 |
Aneurysm-Osteoarthritis Syndrome |
|
Inguinal hernia, Arterial dissection, Camptodactyly of finger, Arterial tortuosity, Patent ductus... |
ORPHA:284984 |
Autosomal Dominant Cutis Laxa |
|
Inguinal hernia, Dilatation of the ventricular cavity, Coarctation of aorta, Feeding difficulties... |
ORPHA:90348 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Decreased response to growth hormone stimulation test, Coarctation of a... |
OMIM:617260 |
Pyknoachondrogenesis |
|
Abdominal distention |
ORPHA:3003 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Small for gestational age, Hypospadias, Low anterior hairline, Coarctation... |
ORPHA:124 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Abnormal myelination |
ORPHA:67045 |
Thrombocytopenia-Absent Radius Syndrome |
|
Pancreatic cysts, Patent ductus arteriosus, Coarctation of aorta, Hepatosplenomegaly, Aplasia of ... |
OMIM:274000 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Abnormal central motor function, Cerebral artery stenosis, Precocious ... |
ORPHA:97685 |
Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal... |
OMIM:618780 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Cyst of the ductus choledochus, Patent ductus arteriosus, Feeding difficulties, Coar... |
OMIM:619480 |
Kabuki Syndrome 1 |
|
Highly arched eyebrow, Premature thelarche, Feeding difficulties in infancy, Sparse eyebrow, Cryp... |
OMIM:147920 |
Orofaciodigital Syndrome Vi |
|
Failure to thrive, Coarctation of aorta |
OMIM:277170 |
Phace Syndrome |
|
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Hemiplegia/hemiparesis, Coarctation ... |
ORPHA:42775 |
Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Arterial tortuosity, Patent ductus arteriosus, Atypical scarring of skin... |
ORPHA:60030 |
Aortic Valve Disease 2 |
|
Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,... |
OMIM:614823 |
Nijmegen Breakage Syndrome |
|
Premature ovarian insufficiency, Neurodegeneration |
OMIM:251260 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, Transposition... |
OMIM:620294 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Supernumerary nipple, Patent ductus arteriosus, Coarctation of aorta, ... |
OMIM:600268 |
Heterotaxy, Visceral, 5, Autosomal |
|
Cerebellar atrophy, Asplenia, Patent ductus arteriosus, Partial anomalous pulmonary venous return... |
OMIM:270100 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Hydrometrocolpos, Coarctation of aorta, Nai... |
OMIM:617088 |
Genetic Recurrent Myoglobinuria |
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Elevated hepatic transaminase, Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, ... |
ORPHA:99845 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
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Rectoperineal fistula, Feeding difficulties in infancy, Cryptorchidism, Coarctation of aorta, Dif... |
OMIM:618748 |
Absence Of The Pulmonary Artery |
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Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Coarctation of aorta... |
ORPHA:980 |
Heterotaxy, Visceral, 12, Autosomal |
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Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... |
OMIM:619702 |
Maternal Phenylketonuria |
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Double outlet right ventricle, Tetralogy of Fallot, Coarctation of aorta |
ORPHA:2209 |
Heterotaxy, Visceral, 8, Autosomal |
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Aortopulmonary collateral arteries, Right aortic arch, Abdominal situs inversus, Pulmonary artery... |
OMIM:617205 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
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Hypospadias, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of ao... |
OMIM:600460 |
Degcags Syndrome |
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Abnormal myelination |
OMIM:619488 |
Aortic Arch Interruption |
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Feeding difficulties in infancy, Patent ductus arteriosus, Double outlet right ventricle, Abnorma... |
ORPHA:2299 |
Diamond-Blackfan Anemia 1 |
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Failure to thrive, Coarctation of aorta |
OMIM:105650 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
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Increased circulating lactate dehydrogenase concentration |
OMIM:268200 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
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Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Hematochezia, Stroke, ... |
OMIM:175050 |
Cardiomyopathy, Dilated, 1S |
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Pulmonary artery hypoplasia, Coarctation of aorta |
OMIM:613426 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Cardiomegaly, Patent ductus arteriosus, Pulmonary artery stenosis, Hypoplastic aort... |
ORPHA:99125 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
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Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... |
OMIM:610338 |
Orofaciodigital Syndrome Type 14 |
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Abnormal myelination |
ORPHA:434179 |
Familial Bicuspid Aortic Valve |
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Aortic arch aneurysm, Ascending aortic dissection, Thoracic aorta calcification, Coarctation of a... |
ORPHA:402075 |
Craniofacial Microsomia 1 |
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Right aortic arch, Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta |
OMIM:164210 |