Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
lipin 1
Synonyms:
Lipin1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Lpin1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Lpin1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration OMIM:268200

The table below shows human diseases predicted to be associated to Lpin1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Gait disturbance, Peripheral hypomyelination, Axonal l... OMIM:611228
Multiple Symmetric Lipomatosis
Insulin resistance, Gait disturbance, Hepatomegaly, Abnormal adipose tissue morphology, Multiple ... ORPHA:2398
Chronic Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Difficulty walking, Abnormal nerve conduction velocity, Motor conductio... ORPHA:2932
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Null Syndrome
Inability to walk, Peripheral demyelination, Difficulty walking, Demyelinating peripheral neuropa... ORPHA:280234
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:607734
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Lower limb pain, Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropat... ORPHA:208981
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segmental peripheral demye... OMIM:601098
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:118210
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Difficulty walking, Peripheral hy... OMIM:605285
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral demyelin... OMIM:614895
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced intraabdominal adipose tissue, Tetraparesis, Hyperactivity, Generalized lipodystrophy, Sp... ORPHA:363400
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Difficulty walking, Steppage gait, Onion bulb formation OMIM:618279
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decreased number of periph... OMIM:609311
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Gait ataxia, Decreased number of peripheral myelinated... OMIM:180800
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Charcot-Marie-Tooth Disease, Axonal, Type 2O
Decreased motor nerve conduction velocity, Falls OMIM:614228
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Lipoatrophy, Hepatic fibrosis, ... ORPHA:280356
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Segmental peripheral demyelination, Onion bulb formation, Axonal degeneration/regeneration, Stepp... OMIM:606483
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Optic Atrophy With Demyelinating Disease Of Cns
CNS demyelination, Optic atrophy, Ataxia, Peripheral demyelination OMIM:165200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Gait disturbance, Peripheral demyelination, Decreased nerve conduction velocity ORPHA:99944
Giant Axonal Neuropathy 2, Autosomal Dominant
Steppage gait, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Onion bul... OMIM:610100
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatic steatosis, Lipodystrophy, Primary amenorrhea, Hepatomegaly, Splenomeg... OMIM:612526
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hepatomegaly, Pancreatitis,... ORPHA:79084
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Inability to walk, Demyelinating sensory neuropathy, Gait disturbance, Abnormal motor evoked pote... ORPHA:99939
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:605588
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Abno... OMIM:605253
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Foot osteomyelitis, Decreas... OMIM:600882
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Steppage gait, Axonal regeneration, Onion bulb formation OMIM:615185
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Flexion c... OMIM:609260
Lipodystrophy, Familial Partial, Type 7
Gait ataxia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, Impaired g... OMIM:606721
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Onion bulb formation OMIM:616039
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination OMIM:162500
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Difficulty walking, Motor conduction block, Demyelinat... ORPHA:99953
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Abnormality of peripheral nerve conduction, Abnormal myelination, Optic atrophy ORPHA:431329
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Steppage gait, Decreased motor nerve conduction velocity OMIM:607678
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Oligomenorrhea, Hepatic... ORPHA:79085
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Lipodystrophy, Abdominal obesity, Diabetes mellitus OMIM:615980
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Difficulty walking, Decreased motor nerve conduction velocity, Decreased amplitude of sensory act... OMIM:618912
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Steppage gait, Decreased motor nerve conduction velocity OMIM:302801
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnorm... OMIM:601596
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... DECIPHER:29
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Decreased number ... OMIM:608673
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Gait dist... ORPHA:101081
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Axonal loss, Onion bulb formation, Abnormal auditory evoked potentials, Decreas... OMIM:601455
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Flexion contracture, Decreased number of peripheral my... OMIM:607706
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Difficulty walking, Decreased number of peripheral mye... OMIM:604563
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Dystonia, Motor axonal neuropathy, Joint contractures involving the joints of ... ORPHA:457205
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Diabetes mellitus, Lipoatrophy, Oligomenorrhea OMIM:613877
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hypertrichosis, Clitoral hypertrophy, Low posterior hairline, Low anterior ... ORPHA:528
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Abnormal autonomic nervous system physiology, Peripheral demyelination DECIPHER:59
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:145900
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Neuronopathy, Distal Hereditary Motor, Type Vc
Difficulty walking, Decreased compound muscle action potential amplitude OMIM:619112
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Gait ataxia, Peripheral demyelination, Decreased nerve conduction velocity OMIM:249900
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Oligomenorrhea, Hepatic... ORPHA:435660
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Steppage gait, Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation... OMIM:608340
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Irregular myelin ... OMIM:601382
Hereditary Motor And Sensory Neuropathy V
Difficulty walking, Decreased motor nerve conduction velocity, Lower limb pain, Peripheral axonal... OMIM:600361
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:606482
Glycogen Storage Disease Vi
Hypercholesterolemia, Increased hepatic glycogen content, Elevated hepatic transaminase, Hypoglyc... OMIM:232700
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Steppage gait, Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve ... OMIM:607677
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, CNS demyelination, Peripheral demyelination OMIM:250850
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Lipodystrophy,... OMIM:604367
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Decreased motor nerve conduction velocity, Facial diplegia OMIM:618184
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Steppage gait, Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607731
X-Linked Charcot-Marie-Tooth Disease Type 6
Difficulty walking, Steppage gait, Decreased nerve conduction velocity ORPHA:352675
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity, Ataxia, Bradykinesia OMIM:183050
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Infertility, Azoospermia, Premature coronary artery atherosclerosis, Insuli... OMIM:615703
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Acu... OMIM:608600
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
Joint hypermobility, Peripheral axonal neuropathy, Decreased nerve conduction velocity OMIM:608895
Leukodystrophy, Hypomyelinating, 18
Dystonia, Abnormal motor nerve conduction velocity, Flexion contracture, Demyelinating peripheral... OMIM:618404
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Gait disturbance, Optic atrophy, Segmental peripheral demyelination/remyeli... OMIM:311070
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased amplitude of sensory action potentials, Gait ataxia, Decreased nerve conduction velocit... ORPHA:90103
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Mildly elevated creatine kinase, Gait disturbance, Degeneration of anterior horn cells, ... OMIM:604484
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Gait disturbance, Decreased nerve conduction velocity OMIM:615284
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Unsteady gait, Acute demyelinating polyneuropathy ORPHA:98916
Ataxia-Deafness-Intellectual Disability Syndrome
Joint hyperflexibility, Ataxia, Decreased nerve conduction velocity ORPHA:1188
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Ataxia, Decreased nerve conduction velocity ORPHA:101078
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Gait ataxia, Joint contracture of the hand, Peripheral demyelination, Optic atrophy, Broad-based ... OMIM:258650
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Rft1-Cdg
Arthrogryposis multiplex congenita, Cerebral atrophy, Ataxia, Hepatomegaly, Cerebral cortical atr... ORPHA:244310
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Difficulty walking, Hepatic steatosis, Hepatomegaly, Hypertriglyce... OMIM:610717
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Cerebral atrophy, Ataxia, Hepatomegaly, ... OMIM:615924
Early-Onset X-Linked Optic Atrophy
Dysdiadochokinesis, Gait ataxia, Decreased nerve conduction velocity, Optic atrophy, Optic disc p... ORPHA:98890
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Insulin resistance ORPHA:79087
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Unsteady gait, Toe walking, EEG with generalized slow activity, Decreased number of peripheral my... ORPHA:2386
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid... OMIM:306000
Neuronopathy, Distal Hereditary Motor, Type Iid
Difficulty walking, Decreased motor nerve conduction velocity OMIM:615575
Parkinsonism With Polyneuropathy
Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity, ... OMIM:619279
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabe... ORPHA:435651
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Difficulty walking, Axonal loss, Ataxia, Peripheral demyelination OMIM:616684
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Abnormality of the nail, Insulin resistance, Hypoglycemia, Truncal obesity,... ORPHA:181393
Spinocerebellar Ataxia Type 43
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Unsteady gait, Peripheral axonal neuropa... ORPHA:497764
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Decreased motor nerve conduction velocity, Difficulty walking, Gait disturbanc... ORPHA:101077
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of the nail, Cellulitis, Insulin resistance, Hepatic steatosis, Lipodystrophy, Lipoat... ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Hyperuricemia, Secondary amenorrhea, Cirrhosis, Maternal diabetes, Insulin resistance, Coronary a... ORPHA:79083
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Lipodystrophy OMIM:615238
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Toe walking, Axonal degeneration/regeneration, Periphe... OMIM:614436
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Gait disturbance, Ataxia ORPHA:101075
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Steppage gait, Decreased motor nerve conduction velocity, Chronic axonal neuropathy OMIM:606595
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Difficulty walking, Gait disturbance, Toe walking, Peripheral axonal neuropathy, Decreased nerve ... ORPHA:435387
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Gait disturbance, Ataxia, Splenomegaly ORPHA:2274
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes mellitus, Chil... ORPHA:71529
Cataract-Ataxia-Deafness Syndrome
Ataxia, Decreased nerve conduction velocity ORPHA:1368
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased sensory nerve conduction velocity, Chronic axonal neuropathy, Foot osteomyelitis, Decre... OMIM:162400
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Non-obstructive azoospermia, Decreased testicular size, Abnormal sperm morpholog... ORPHA:399808
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Temple Syndrome
Hypercholesterolemia, Maturity-onset diabetes of the young, Cryptorchidism, Overweight, Feeding d... OMIM:616222
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Steppage gait, Decreased nerve conduction velocity OMIM:302802
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Lipodystrop... OMIM:615381
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carc... ORPHA:369
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gait disturbance, Axonal loss, Abnormal upper motor neuron morphology, Pathologic fracture, EEG a... OMIM:221770
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Enlarged peripheral nerve, Hirsutism, Increased facial adipose tissue, Labi... OMIM:151660
Distal Hereditary Motor Neuropathy Type 5
Unsteady gait, Abnormal motor nerve conduction velocity ORPHA:139536
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy OMIM:182815
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Flexion contracture, Ataxia, Babinski sign, Spasticity OMIM:611105
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Elbow flexion contracture, Waddling gait, Axonal degeneration, Decreased nerve conduction velocity OMIM:618138
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Gait disturbance, Decreased nerve conduction velocity ORPHA:2928
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased nerve conduction velocity ORPHA:101082
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Premature graying of hair, Secondary amenorrhea, Increased facial adipose tissue, Insulin resista... ORPHA:280365
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:613287
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insuli... ORPHA:2457
Autosomal Recessive Spastic Paraplegia Type 21
Difficulty walking, Abnormality of peripheral nerve conduction, Gait disturbance ORPHA:101001
Spastic Paraplegia 55, Autosomal Recessive
Difficulty walking, Onion bulb formation, Peripheral axonal neuropathy, Steppage gait, Optic atrophy OMIM:615035
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus, Pancreatitis OMIM:246650
Motor Neuropathy, Peripheral, With Dysautonomia
Peripheral demyelination, Abnormal autonomic nervous system physiology, Orthostatic hypotension, ... OMIM:252320
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 ORPHA:140941
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Gait disturbance, Abnormal autonomic nervous system ph... ORPHA:139578
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Difficulty walking, Gait disturbance, Toe walking, Dec... OMIM:302800
Episodic Ataxia, Type 1
Episodic ataxia, Tremor, Incoordination, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Tremor, Abnormal peripheral action potential amplitude,... ORPHA:90117
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Tremor, Gait ataxia, Truncal ataxia, Axonal degeneration, Dystonia, Limb at... OMIM:208920
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Steppage gait, Axonal degeneration/regeneration, Peripheral demyelination OMIM:607736
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Elevated hepatic transaminase, Insulin resistance, Feeding difficulties, Hepati... OMIM:613327
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells ORPHA:65684
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Gait ataxia, Difficulty walking, Limb ataxia, Unsteady... ORPHA:3115
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of peripheral my... OMIM:607831
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Flexion contracture, Cerebral atrophy, Bradykinesia, Ankle cl... OMIM:617013
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Steppage gait, Decreased motor nerve conduction velocity, Facial palsy, Flexion contracture OMIM:607684
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Falls, Par... ORPHA:306692
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Feeding difficulties, Speech apraxia, Hypergonadotropic h... ORPHA:79237
Charcot-Marie-Tooth Disease Type 4D
Inability to walk, Decreased motor nerve conduction velocity, Decreased amplitude of sensory acti... ORPHA:99950
Krabbe Disease
Decreased nerve conduction velocity, EEG abnormality, Optic atrophy, Peripheral demyelination, CN... OMIM:245200
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Gait disturbance, Babinski sign, Diffuse cerebral atrophy OMIM:300660
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Achilles tendon contracture, Cerebellar atrophy, Adductor longu... OMIM:210000
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Tremor, Neurodegeneration, Ataxia, Cerebellar atrophy, Premature ovarian insuf... OMIM:615889
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Non-obstructive azoospermia, Obstructive azoospermia, Decreased testicular size, Abn... ORPHA:399805
Autosomal Dominant Spastic Paraplegia Type 17
Spastic gait, Knee pain, Abnormal motor nerve conduction velocity ORPHA:100998
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Inguinal hernia, Male infertility OMIM:261550
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly OMIM:619175
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral demyelination, Peripheral hypomyelination, ... OMIM:604168
Charcot-Marie-Tooth Disease And Deafness
Steppage gait, Decreased motor nerve conduction velocity OMIM:118300
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Dystonia, Decreased nerve conduction velocity OMIM:614932
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Optic atrophy, Flexion contracture, Peripheral demyelination OMIM:618237
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Gait disturbance, Optic atrophy, Ataxia ORPHA:99014
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Cerebral atrophy, Bradykinesia, Ankle clonus, Progressive inability to walk, Mu... ORPHA:521406
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Spastic a... OMIM:270550
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Gait disturbance, Abnormal sensory nerve conduction velocity ORPHA:276435
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Rigidity OMIM:617018
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Glucose intolerance, Sparse hair, Flexion contracture, Hyperlipidemia, Insulin-... OMIM:608612
Ataxia-Pancytopenia Syndrome
Dysmetria, Unsteady gait, Ataxia, Decreased nerve conduction velocity OMIM:159550
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Red hair, Pituitary hypothyroid... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Red hair, Pituitary hypothyroid... ORPHA:71526
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Ataxia, Dysmetria, Decreased nerve conduction velocity, Hyperextensibility of... OMIM:618356
Yuan-Harel-Lupski Syndrome
Gait ataxia, Joint laxity, Demyelinating peripheral neuropathy, Unsteady gait, Decreased nerve co... OMIM:616652
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Gait disturbance, Peripheral axonal neuropathy, Decreased distal sensory nerve action potential OMIM:618400
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Flexion contracture of finger, Camptodactyly, Ataxia... OMIM:609033
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Arteriosclerosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, ... ORPHA:75234
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Lipodystrophy, Congenital Generalized, Type 2
Reduced intraabdominal adipose tissue, Hirsutism, Clitoral hypertrophy, Cirrhosis, Decreased fert... OMIM:269700
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Abnormal circul... ORPHA:79086
Parkinson Disease 22, Autosomal Dominant
Tremor, Orthostatic hypotension, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction OMIM:612227
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Decreased fertility in females, Hyperinsulinemia, Elevated hep... OMIM:608594
Spinocerebellar Ataxia 10
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Dysmetria, Decreased... OMIM:603516
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Achilles tendon contracture, Dysmetria, Decreased nerve conduction velocity, Optic atrophy OMIM:612674
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Decreased motor nerve conduction velocity, Dystonia, Ataxia, Sensory axonal neuro... OMIM:608804
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Gait disturbance, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Incre... OMIM:616516
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Hepatic fibrosis, Hepatomegaly, Cerebellar atrophy, Hepatic failure,... OMIM:616719
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Diarrhea, Hypersplenism, Vomiting, Cirrhosis, Increased hepatic echogenicit... OMIM:278000
Ddost-Cdg
Oromotor apraxia, Tremor, Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Failur... ORPHA:300536
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Foot acroosteolysis, Decreased sensory nerve conduction velocity, Painless fractures due to injur... OMIM:201300
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Failure to thrive, ... OMIM:617872
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Lipodystrophy, Lipoatrophy, Menometrorrhagia, S... ORPHA:90970
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Gait disturbance, Decreased sensory nerve conduction v... OMIM:603472
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... OMIM:614480
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Citrullinemia Type Ii
Hypercholesterolemia, Decreased body mass index, Diarrhea, Hypoalbuminemia, Hyperactivity, Vomiti... ORPHA:247585
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Acromicric Dysplasia
Joint stiffness, Delayed skeletal maturation, Decreased nerve conduction velocity ORPHA:969
Developmental And Epileptic Encephalopathy 36
Abnormality of extrapyramidal motor function, Cerebral atrophy, Flexion contracture, Abnormal pyr... OMIM:300884
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Cerebellar atrophy, Frequent falls OMIM:615945
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Diarrhea, Elevated circulating creatine kinase concentrati... ORPHA:370
Leukodystrophy, Hypomyelinating, 5
Inability to walk, Leukodystrophy, Decreased motor nerve conduction velocity, Loss of ability to ... OMIM:610532
Donohue Syndrome
Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Adi... OMIM:246200
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Cerebellar atrophy, Babinski si... OMIM:615768
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Niemann-Pick Disease, Type B
Foam cells with lamellar inclusion bodies, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Incr... OMIM:607616
Glycerol Kinase Deficiency
Cryptorchidism, Adrenocortical hypoplasia, Lethargy, Hypoglycemia, Adrenal insufficiency, Hypertr... OMIM:307030
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Diarrhea, Elevated circulating creatine kinase concentrati... ORPHA:264580
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Chronic active hepatitis, Hypergonadotropic hypogonadism, ... OMIM:203800
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Axonal loss, Ataxia, Peripheral demyelination OMIM:617672
Mitochondrial Neurogastrointestinal Encephalomyopathy
Macrovesicular hepatic steatosis, Weight loss, Diarrhea, Vomiting, Cirrhosis, Paresthesia, Hyperg... ORPHA:298
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c... OMIM:248370
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete... ORPHA:436182
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction, Lower limb pain, Upper limb pain ORPHA:101005
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Wild Type Abeta2M Amyloidosis
Arthritis, Axonal loss, Decreased amplitude of sensory action potentials, Decreased nerve conduct... ORPHA:85446
Multifocal Motor Neuropathy
Motor conduction block, Limited wrist extension ORPHA:641
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Recurrent hypo... ORPHA:79299
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Hypocalcemia, Infertility, Elevated hepatic transaminase, Abdominal pain, Thyr... OMIM:212750
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Gait ataxia, Cerebellar atrophy ORPHA:423296
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Elevated circulating aspartate aminotransferase concentra... ORPHA:2088
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Focal pancreatic islet hyperplasia, Lethargy, Hyperi... ORPHA:276575
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity OMIM:605726
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral demyelination, Peripheral hypomyelination, Long-segment aganglionic megacolon, Ataxia,... OMIM:609136
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Hepatic steatosis, Hypertonia, Ketotic hypoglycemia, Failure to thrive ORPHA:26792
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Gait ataxia, Flexion contracture of finger, Demyelinating sensory neuropathy, ... ORPHA:101085
H Syndrome
Varicose veins, Abnormal eyebrow morphology, Azoospermia, Amenorrhea, Enlarged kidney, Camptodact... ORPHA:168569
Smith-Magenis Syndrome
Hypercholesterolemia, Constipation, Synophrys, Hypertriglyceridemia, Abnormality of the thyroid g... OMIM:182290
Classic Galactosemia
Dystonia, Clumsiness, Decreased serum insulin-like growth factor 1, Speech apraxia, Jaundice, Del... ORPHA:79239
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Diffuse cerebellar... ORPHA:363710
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Metachromatic Leukodystrophy
Dystonia, Decreased nerve conduction velocity, Gait disturbance, Ataxia, Peripheral demyelination... OMIM:250100
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Gait disturbance, Ataxia, EEG abnormality, Periph... ORPHA:206448
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Increased VLDL cholesterol concentration, Hypopituitarism, Precocious athero... OMIM:144600
Hypertriglyceridemia 1
Glucose intolerance, Increased VLDL cholesterol concentration, Hypopituitarism, Precocious athero... OMIM:145750
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Cimdag Syndrome
Dystonia, Microvesicular hepatic steatosis, Chorea, Pontocerebellar atrophy, Lipodystrophy, Cereb... OMIM:619273
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Cerebellar atrophy, Spasticity ORPHA:217012
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Elevated hepatic transaminase, Difficulty walking, Hepatic steatosis, Chorea, Hep... ORPHA:369840
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Decreased motor nerve conduction velocity, Facial palsy, CNS hypomyelination, Cerebral hypomyelin... OMIM:601170
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Hypothyroidism, Camptodactyly, Patent ductus arteriosus, Cholestasis, Hepatomegal... OMIM:608104
Hyperlipoproteinemia, Type Ii, And Deafness
Type IV atherosclerotic lesion, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholest... OMIM:144300
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination, Hand tremor ORPHA:401840
3-Methylglutaconic Aciduria Type 1
Dystonia, Spastic tetraparesis, Hypoglycemia, Hepatomegaly, Progressive cerebellar ataxia, Failur... ORPHA:67046
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Tremor, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal... ORPHA:263455
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:606664
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Lipodystrophy, Toe walking, Achilles tendon contracture, Hypertriglyceridemia, ... ORPHA:98855
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Dystonia, Abnormal nerve conduction velocity, Gait disturbance, Bradykinesia,... ORPHA:98755
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Bra... OMIM:619048
X-Linked Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Lipodystrophy, Toe walking, Achilles tendon contracture, Hypertriglyceridemia, ... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Lipodystrophy, Toe walking, Achilles tendon contracture, Hypertriglyceridemia, ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Lipodystrophy, Toe walking, Achilles tendon contracture, Hypertriglyceridemia, ... ORPHA:98853
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neur... OMIM:615490
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Hyperinsulinemic hypoglycemia, Primary amenorrhea, Delayed puberty, Dorsocervi... OMIM:616033
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Jaundice, Splen... OMIM:603552
Abetalipoproteinemia
CNS demyelination, Ataxia, Peripheral demyelination OMIM:200100
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Constipation, Central hypothyroidism, Inappropriately normal thyroid-stimul... OMIM:301033
Cog4-Cdg
Hypercholesterolemia, Cirrhosis, Fatal liver failure in infancy, Elevated hepatic transaminase, F... ORPHA:263501
Combined Oxidative Phosphorylation Defect Type 13
Delayed myelination, Limb dystonia, Decreased nerve conduction velocity, Hip contracture, Ankle f... ORPHA:319514
Combined Saposin Deficiency
Hyperkinetic movements, Hepatomegaly, Myoclonus, Babinski sign, Splenomegaly, Fasciculations, Neu... OMIM:611721
Spinocerebellar Ataxia 25
Ataxia, Decreased number of peripheral myelinated nerve fibers OMIM:608703
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Stereotypy, Atrophy/Degeneration a... OMIM:617862
Combined Oxidative Phosphorylation Deficiency 9
Elevated hepatic transaminase, Feeding difficulties, Hepatomegaly, Hyperalaninemia, Failure to th... OMIM:614582
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Flexion contracture, Tetraparesis, Head titubation, Ataxia, Ankle clonus, Cer... OMIM:615491
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, H... ORPHA:66628
Adrenomyeloneuropathy
Spastic gait, Distal sensory impairment, Axonal degeneration, Spasticity, Adrenocortical abnormal... ORPHA:139399
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Inflammation of the large intestine, Colitis, Hepat... OMIM:300635
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Flexion c... OMIM:218000
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Amyotrophic Lateral Sclerosis 4, Juvenile
Diffuse axonal swelling, Difficulty walking, Abnormal lower motor neuron morphology, Amyotrophic ... OMIM:602433
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, H... ORPHA:179494
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Cirrhosis, Abdominal pain, Elevated circulating alanine aminotransfera... ORPHA:90003
Galactosemia
Cryptorchidism, Dystonia, Decreased serum insulin-like growth factor 1, Abnormality of extrapyram... ORPHA:352
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Dystonia, Cerebral atro... OMIM:615157
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Elevated circulating alka... OMIM:616829
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Galloway-Mowat Syndrome 5
Ataxia, Peripheral demyelination OMIM:617731
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hyperbilirubinemia, Macrovesicul... OMIM:613070
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypothyroidism, Hepatic steatosis, Hypopituitarism, Hypertriglycer... OMIM:619013
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy, Dysmetria OMIM:617917
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Impaired glucose tolerance, Elevated circulating thyroid-stimulating h... OMIM:256040
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal hair morphology, Insulin resistance, Calcinosis, Delayed puberty, Alopecia, Generalized ... ORPHA:90154
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity, Camptodactyly of finger ORPHA:2926
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Myoclonus, Babi... OMIM:615362
Leukodystrophy, Hypomyelinating, 11
Tremor, Cerebellar atrophy, Ataxia, Spasticity OMIM:616494
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger, Ataxia, Dysmetria, Motor axonal neuropathy, Abnormality of... ORPHA:48431
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Steato... ORPHA:71
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Peripheral demyelination OMIM:616733
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Obesity OMIM:614662
Peroxisomal Acyl-Coa Oxidase Deficiency
Dystonia, Elevated hepatic transaminase, Hypertonia, Hepatomegaly, Babinski sign, Diffuse hepatic... OMIM:264470
Adiposis Dolorosa
Constipation, Abdominal distention, Painful subcutaneous lipomas, Obesity OMIM:103200
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Atypical Werner Syndrome
Ovarian neoplasm, Premature graying of hair, Decreased fertility, Delayed puberty, Secondary amen... ORPHA:79474
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function, Failure to thrive, Sp... OMIM:617093
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Elevated alkaline phosphatase of ... OMIM:616828
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Sparse hair, Premature graying of hair, Absent eyelashes, Lipoatrophy, Aort... ORPHA:363618
Familial Multiple Lipomatosis
Functional intestinal obstruction, Insulin resistance, Lipodystrophy, Increased adipose tissue, H... ORPHA:199276
Spinocerebellar Ataxia Type 25
Progressive cerebellar ataxia, Gait ataxia, Decreased number of large peripheral myelinated nerve... ORPHA:101111
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Spastic Paraparesis And Deafness
Hypogonadism, Tremor, Spastic paraparesis OMIM:312910
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Lipodystrophy, Panniculitis, Flexion contracture, Hepatomegaly, Hy... OMIM:617591
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Atypical scarring of skin, Type II diabetes mellitu... ORPHA:791
Carnitine Deficiency, Systemic Primary
Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Impaired gluconeogenesis, Decreased c... OMIM:212140
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Steppage gait, Axonal loss, Onion bulb formation OMIM:614455
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Lethargy, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:618224
Smith-Magenis Syndrome
Hypercholesterolemia, Hypothyroidism, Constipation, Gastroesophageal reflux, Gait disturbance, Fa... ORPHA:819
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Lethargy, Hyperinsulinemic hypoglycemia, Feeding difficulties, Diffuse pan... ORPHA:276556
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Global brain atrophy, Steppage gait, Pain insensitivity, Ataxia, Impaired v... ORPHA:94124
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest... OMIM:617156
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Polycystic ovaries, Ce... ORPHA:3085
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypothyroidism, Abnormal subcutane... OMIM:212065
Wolman Disease
Malnutrition, Steatorrhea, Hepatomegaly, Adrenal insufficiency, Cachexia, Hepatic failure, Spleno... ORPHA:75233
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Cerebellar atrophy OMIM:141500
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hyperinsulinemic hypoglycemia, Mildly elevated creatine kinase, Diarrhea, Vomiting, Hyperammonemi... ORPHA:71212
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Cerebellar atrophy, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Cerebral atrophy, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy,... OMIM:607250
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Orthostatic hypotension due to autonomic dysfunction, Symmetric peripheral demyel... OMIM:169500
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Hypsarrhythmia OMIM:618856
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Elevated hepatic transaminase, Feeding difficulties, Cholestasis, Hepa... OMIM:618528
Aromatase Deficiency
Cryptorchidism, Insulin resistance, Hypergonadotropic hypogonadism, Hepatic steatosis, Ambiguous ... ORPHA:91
Cednik Syndrome
Abnormality of peripheral nerve conduction, Optic atrophy, Ataxia ORPHA:66631
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Microvesicular hepatic steatosis, Weight loss, Jaundice, Decre... ORPHA:275761
Neurodegeneration With Brain Iron Accumulation 2A
Unsteady gait, Optic atrophy, Ataxia, Decreased nerve conduction velocity OMIM:256600
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Orthostatic hypotension, Axonal loss, Degeneration of anterior horn cells, Enhanced neurotoxicity... OMIM:118301
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Tremor, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketo... ORPHA:276608
Sialidosis Type 1
Gait disturbance, Ataxia, EEG abnormality, Decreased nerve conduction velocity, Delayed skeletal ... ORPHA:812
Nephrotic Syndrome, Type 14
Cryptorchidism, Hypothyroidism, Hypoglycemia, Ataxia, Hypertriglyceridemia, Adrenal insufficiency... OMIM:617575
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Decreased nerve conduction velocity, Degeneration of anterior horn cells... OMIM:604320
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Babinski sign, Dysmetria, Neuronal loss in ... OMIM:610245
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination ORPHA:71211
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... OMIM:300894
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Gait ataxia, Tremor, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Cerebral atrophy, Hepatomegaly, Splenomegaly, Hypogonadism OMIM:608540
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Myoclonus, Ataxia OMIM:616187
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Peripheral hypomyelination, Sensory axonal neur... OMIM:618733
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Spastic paraparesis, Gait disturbance, Neurodegeneration, Toe walking, Bradykinesia, Sp... OMIM:615643
Wilson Disease
Acute hepatitis, Abnormality of the menstrual cycle, Cirrhosis, Clumsiness, Elevated hepatic tran... ORPHA:905
Short Stature, Microcephaly, And Endocrine Dysfunction
Dysdiadochokinesis, Cryptorchidism, Apraxia, Sparse hair, Insulin resistance, Hypothyroidism, Gai... OMIM:616541
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Leprechaunism
Central hypothyroidism, Hypertrichosis, Clitoral hypertrophy, Insulin resistance, Enlarged kidney... ORPHA:508
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Dystonia, Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicu... OMIM:256810
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Fo... ORPHA:464440
Retinitis Pigmentosa 59
Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Spasticity OMIM:613861
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Congenital Bile Acid Synthesis Defect Type 4
Cirrhosis, Tremor, Biliary tract abnormality, Cholestasis, Hepatomegaly, Type II diabetes mellitus ORPHA:79095
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia, Spasticity OMIM:240800
Perlman Syndrome
Cryptorchidism, Hyperinsulinemia, Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancrea... ORPHA:2849
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Optic disc pallor OMIM:618970
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Ataxia, Hypoglycemia, Hepatomegaly, D... ORPHA:42
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Viral hepatitis, Hepat... ORPHA:139507
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia, Atheroscler... OMIM:603813
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Analbuminemia
Hypercholesterolemia, Elevated circulating transferrin concentration, Lipodystrophy, Patent ductu... OMIM:616000
Vocal Cord And Pharyngeal Distal Myopathy
Difficulty walking, Unsteady gait, Amyotrophic lateral sclerosis, Decreased nerve conduction velo... ORPHA:600
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Tremor, Clumsiness, Chorea, Poor fine motor coordination, Cerebral atrophy, Ataxia, Bra... ORPHA:79263
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... OMIM:611302
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Elevated hepatic tran... ORPHA:98907
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Decreased nerve conduction velocity ORPHA:1933
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Tremor, Ataxia, Spasticity OMIM:614307
Cerebrotendinous Xanthomatosis
Dystonia, Gliosis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Global brain ... ORPHA:909
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Gastrointestinal dysmotility, Malnutrition, Abdominal pain, Constipation, Weight l... OMIM:613662
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Axial dystonia, Decreased sensory nerve conduction vel... OMIM:619026
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Thyroid Hemiagenesis
Thyroid agenesis, Constipation, Umbilical hernia, Jaundice, Abdominal distention ORPHA:95719
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Congenital contracture, Decreased nerve conduction velocity OMIM:615368
Cholestasis-Lymphedema Syndrome
Cirrhosis, Gastrointestinal hemorrhage, Abdominal pain, Neonatal cholestatic liver disease, Bilia... ORPHA:1414
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Growth Factors, Combined Defect Of
Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion contracture, Insulin-resistant diabet... OMIM:233805
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Failure to thrive OMIM:615595
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Dystonia, Myoclonus, Splenomegaly ORPHA:139406
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... ORPHA:216873
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Cerebral atrophy, Bradykinesia, Action tremor, Cerebellar atrophy, Par... OMIM:300423
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Elevated circulating methylsuccinic acid concentration, Constip... OMIM:618156
Werner Syndrome
Ovarian neoplasm, Premature graying of hair, Secondary amenorrhea, Type II diabetes mellitus, Pul... ORPHA:902
Diaminopentanuria
Neurodegeneration, Ataxia, Spasticity OMIM:222350
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Positive Romberg sign, Gait ataxia, Flexion contracture of finger, Camptodactyly, Gait disturbanc... ORPHA:88628
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:606070
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Hypertriglyceridemia, Splenomegaly, Hepato... OMIM:613101
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Dystonia, Tremor, Myoclonus OMIM:611092
Combined Oxidative Phosphorylation Defect Type 39
Congenital foot contractures, Hypsarrhythmia, Loss of ability to walk, Toe walking, Leg dystonia,... ORPHA:565624
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, EEG with focal epileptiform discharges, Spinal cord po... ORPHA:1187
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration, Premature coronary artery at... OMIM:618666
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor OMIM:615048
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Rabson-Mendenhall Syndrome
Premature graying of hair, Impaired glucose tolerance, Hirsutism, Hypertrichosis, Clitoral hypert... ORPHA:769
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Accelerated atherosclerosis, Premature coronary artery atheros... ORPHA:412
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Macrovesicular hepatic steatosis, Spastic tetraparesis, Bradykinesia, Cholestasis, Hepa... OMIM:614924
Autosomal Spastic Paraplegia Type 58
Gait ataxia, Spastic ataxia, Unsteady gait, Torticollis, Dysmetria, Peripheral demyelination, Tip... ORPHA:397946
Gaucher Disease Type 2
Dystonia, Flexion contracture, Hepatomegaly, Splenomegaly, Spasticity ORPHA:77260
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Limitation of joint mobility ORPHA:93476
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia, Diarrhea, Failure to thrive, Vomiting, Feeding difficulties in in... OMIM:606528
Insulinoma
Tremor, Lethargy, Hyperinsulinemic hypoglycemia, Paresthesia, Hyperinsulinemia, Fasting hyperinsu... ORPHA:97279
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Decreased number of peripheral myelinated nerve fibers, Multiple joint contra... ORPHA:320406
Metachromatic Leukodystrophy, Late Infantile Form
Leukodystrophy, Dystonia, Gait ataxia, Progressive gait ataxia, Toe walking, Decreased nerve cond... ORPHA:309256
Lecithin:Cholesterol Acyltransferase Deficiency
Foam cells, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
CNS demyelination, Ataxia, Peripheral demyelination OMIM:220111
Secondary Short Bowel Syndrome
Low plasma citrulline, Malnutrition, Small intestinal dysmotility, Constipation, Central hypothyr... ORPHA:95427
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Cerebellar atrophy, Babinski sign, Dysmetria OMIM:607458
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemiple... OMIM:267700
Lead Poisoning
Reduced sperm motility, Decreased circulating osteocalcin level, Poor fine motor coordination, Ab... ORPHA:330015
Classical-Like Ehlers-Danlos Syndrome Type 2
Cryptorchidism, Cellulitis, Prominent veins on trunk, Impaired temperature sensation, Umbilical h... ORPHA:536532
Lcat Deficiency
Hepatomegaly, Hypertriglyceridemia, Atherosclerosis, Splenomegaly ORPHA:650
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Thyroiditis, Hyperuricemia, Delayed puberty, Diarrhea, Hyperli... ORPHA:79259
Cirrhosis, Familial
Micronodular cirrhosis, Lethargy, Jaundice, Increased level of propylene glycol in blood, Abdomin... OMIM:215600
Congenital Hypothyroidism
Goiter, Paresthesia, Abnormal hair morphology, Feeding difficulties in infancy, Hypothyroidism, C... ORPHA:442
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Ce... OMIM:604326
Parkinson Disease 14, Autosomal Recessive
Dystonia, Apraxia, Clumsiness, Tremor, Global brain atrophy, Bradykinesia, Frontotemporal cerebra... OMIM:612953
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Cryptorchidism, Hepatomegaly, Inguina... OMIM:235255
Lichtenstein-Knorr Syndrome