Gene: Lpin1 MGI:1891340

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

Human diseases associated with Lpin1 (2 diseases)
Human diseases predicted to be associated with Lpin1 (1655 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Genetic Recurrent Myoglobinuria		Hypocalcemia, Elevated aldolase level, Increased circulating lactate dehydrogenase concentration,...	ORPHA:99845
Myoglobinuria, Acute Recurrent, Autosomal Recessive		Increased circulating lactate dehydrogenase concentration	OMIM:268200

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

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

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