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Gene: Gars1 MGI:2449057

Gene Summary

Name:

glycyl-tRNA synthetase 1

Synonyms:

Sgrp23, Gars, GENA202, Gena201

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
embryonic lethality prior to organogenesis	Gars1^em1(IMPC)Tcp	HOM	E9.5	0.00
abnormal seminal vesicle morphology	Gars1^em1(IMPC)Tcp	HET	Late adult	0.00
decreased exploration in new environment	Gars1^em1(IMPC)Tcp	HET	Early adult	1.46×10^-05
enlarged urinary bladder	Gars1^em1(IMPC)Tcp	HET	Late adult	0.00
increased circulating triglyceride level	Gars1^em1(IMPC)Tcp	HET	Early adult	8.66×10^-05
preweaning lethality, complete penetrance	Gars1^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal stomach morphology	Gars1^em1(IMPC)Tcp	HET	Early adult	0.00
abnormal eye morphology	Gars1^em1(IMPC)Tcp	HET	Early adult	0.00
abnormal sternum morphology	Gars1^em1(IMPC)Tcp	HET	Early adult	0.00
small spleen	Gars1^em1(IMPC)Tcp	HET	Early adult	0.00
abnormal skin morphology	Gars1^em1(IMPC)Tcp	HET	Early adult	0.00
enlarged heart	Gars1^em1(IMPC)Tcp	HET	Late adult	0.00

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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.

Eye Morphology

Images Ophthalmoscopy

96 Images

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Eye Morphology

Images Ophthalmoscopy

167 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Eye Morphology

Images Slit Lamp

117 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Histopathology

Images

19 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Histopathology

Images

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

7 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Gars1 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 Gars1 (4 diseases)
Human diseases predicted to be associated with Gars1 (858 diseases)

The table below shows human diseases associated to Gars1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Distal Hereditary Motor Neuropathy Type 5	First dorsal interossei muscle atrophy, Distal lower limb muscle weakness, Hammertoe, Distal amyo...	ORPHA:139536
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5	First dorsal interossei muscle atrophy, Hammertoe, Distal amyotrophy, Upper limb muscle weakness,...	OMIM:600794
Charcot-Marie-Tooth Disease, Axonal, Type 2D	First dorsal interossei muscle atrophy, Hammertoe, Distal amyotrophy, Upper limb muscle weakness,...	OMIM:601472
Spinal Muscular Atrophy, Infantile, James Type	Distal amyotrophy, Distal muscle weakness, Increased variability in muscle fiber diameter, Hip co...	OMIM:619042

The table below shows human diseases predicted to be associated to Gars1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Charcot-Marie-Tooth Disease Type 2B1	Peroneal muscle atrophy, Decreased number of large peripheral myelinated nerve fibers, Proximal m...	ORPHA:98856
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2	Hammertoe, Claw hand deformity, Decreased compound muscle action potential amplitude, Distal amyo...	OMIM:605726
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination	OMIM:608236
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Distal amyotrophy, Upper limb muscle weakness, Distal muscle weakness, Foot dorsiflexor weakness,...	OMIM:607678
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Distal amyotrophy, Upper limb muscle weakness, Distal muscle weakness, Foot dorsiflexor weakness,...	OMIM:302801
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12	Peroneal muscle atrophy, Decreased motor nerve conduction velocity, Thenar muscle atrophy, Perone...	OMIM:614751
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased sensory nerve conduction velocity, Distal amyotrophy, Upper limb muscle weakness, Hand ...	OMIM:608323
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness	OMIM:605589
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Lower limb amyotrophy, Triceps weakness, Spinal muscular atrophy, Weakness of the intrinsic hand ...	OMIM:615575
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Peripheral axonal neuropathy, Distal amyotrophy, Facial palsy, Limb muscle weakness, Decreased nu...	OMIM:118210
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb muscle weakness, Decreased nerve conduction velocity, Distal upper limb muscle ...	ORPHA:90103
Charcot-Marie-Tooth Disease, Axonal, Type 2Y	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb mus...	OMIM:616687
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Distal lower limb amyotrophy, Hammertoe, Distal muscle weakness, Skeletal muscle atrophy, Foot do...	OMIM:613287
Charcot-Marie-Tooth Disease, Type 4J	Peripheral hypomyelination, Decreased nerve conduction velocity, Decreased motor nerve conduction...	OMIM:611228
Distal Hereditary Motor Neuropathy Type 5	First dorsal interossei muscle atrophy, Distal lower limb muscle weakness, Hammertoe, Distal amyo...	ORPHA:139536
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Clusters of axonal regeneration, Decrease...	OMIM:607734
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J	Decreased motor nerve conduction velocity, Thenar muscle atrophy, Hammertoe, Distal muscle weakness	OMIM:620111
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant	Hammertoe, Decreased compound muscle action potential amplitude, Distal amyotrophy, Compound musc...	OMIM:616040
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:612577
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Distal lower limb muscle w...	OMIM:620068
Polyglucosan Body Myopathy 2	Peroneal muscle weakness, Muscle fiber inclusion bodies, Muscle fiber polyglucosan inclusion bodi...	OMIM:616199
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Tip-toe gait, Steppage gait, Axonal degeneration, Distal amyotrophy, Foot dorsiflexor weakness, D...	OMIM:614436
Chronic Inflammatory Demyelinating Polyneuropathy	Decreased nerve conduction velocity, Difficulty walking, Abnormal nerve conduction velocity, Fall...	ORPHA:2932
Ethanolaminosis	Cardiomegaly	OMIM:227150
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8	Distal lower limb muscle weakness, Distal upper limb muscle weakness, Decreased amplitude of sens...	OMIM:618912
Charcot-Marie-Tooth Disease, Type 4A	Decreased sensory nerve conduction velocity, Axonal degeneration, Hypertrophic nerve changes, Dis...	OMIM:214400
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Abnormal cranial nerve morphology, Distal amyotrophy, Upper limb muscle weakness, Distal muscle w...	OMIM:605253
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased distal sensory nerve action potential, Proximal muscle weakness in upper limbs, Distal ...	OMIM:607706
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Decreased n...	OMIM:618138
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased distal sensory nerve action potential, Decreased nerve conduction velocity, Hypertrophi...	OMIM:601098
Adult-onset autosomal dominant leukodystrophy (ADLD)	Leukodystrophy, Abnormal autonomic nervous system physiology, Peripheral demyelination	DECIPHER:59
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased distal sensory nerve action potential, Distal lower limb muscle weakness, Distal upper ...	OMIM:607684
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Distal lower limb amyotrophy, Claw hand deformity, Distal muscle weakness, Upper limb amyotrophy,...	OMIM:606595
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13	Distal lower limb amyotrophy, Distal lower limb muscle weakness, Thenar muscle atrophy, Decreased...	OMIM:619112
Charcot-Marie-Tooth Disease, Type 4B1	Distal amyotrophy, Facial palsy, Abnormal auditory evoked potentials, Distal muscle weakness, Pro...	OMIM:601382
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, From...	OMIM:162500
Null Syndrome	Optic atrophy, Decreased nerve conduction velocity, Demyelinating peripheral neuropathy, CNS hypo...	ORPHA:280234
Triose Phosphate-Isomerase Deficiency	Decreased nerve conduction velocity, Skeletal muscle atrophy, Central nervous system degeneration	ORPHA:868
Hereditary Motor And Sensory Neuropathy V	Hammertoe, Distal amyotrophy, Limb muscle weakness, Distal muscle weakness, Foot dorsiflexor weak...	OMIM:600361
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Distal amyotrophy, Upper limb muscle weakness, Decreased number of peripheral myelinated nerve fi...	OMIM:605588
Amyotrophic Lateral Sclerosis 4, Juvenile	Decreased compound muscle action potential amplitude, Axonal degeneration, Distal amyotrophy, Atr...	OMIM:602433
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Axonal degeneration, Distal amyotrophy, Decreased number of peripheral myelinated nerve fibers, P...	OMIM:606482
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Distal muscle weakness, Hand muscle atrophy, Skeletal muscle...	ORPHA:99944
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Distal upper limb muscle weakness, Decreased compound muscle action potential amplitude, Weak gri...	OMIM:619519
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Peripheral axonal neuropathy, Decreased amplitude of sensory action potentials, Decreased number ...	OMIM:608673
Subacute Inflammatory Demyelinating Polyneuropathy	Demyelinating motor neuropathy, Decreased distal sensory nerve action potential, Decreased sensor...	ORPHA:206594
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,...	OMIM:618655
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Decreased nerve conduction velocity, Distal amyotrophy, Upper limb muscle weakness, Distal muscle...	OMIM:302802
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul...	ORPHA:276435
Charcot-Marie-Tooth Disease, Type 4H	Distal lower limb muscle weakness, Distal lower limb amyotrophy, Peripheral hypomyelination, Uppe...	OMIM:609311
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Decreased nerve conduction velocity, Distal amyotrophy, EMG: myopathic abnormalities, Upper limb ...	ORPHA:99939
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology, Decreased motor nerve conduction velocity, Hypertrophic nerve c...	DECIPHER:29
Roussy-Levy Hereditary Areflexic Dystasia	Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Decreased mot...	OMIM:180800
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Distal lower limb muscle weakness, Difficulty walking, Axonal degeneration, Distal ...	OMIM:302800
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Decreased sensory nerve conduction velocity, Distal amyotrophy, Limb muscle weakne...	OMIM:609260
Myopathy, Distal, With Rimmed Vacuoles	Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, EMG: myopathic abnorm...	OMIM:617158
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial...	OMIM:601596
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased motor nerve conduction velocity, Distal amyotrophy, Hammertoe, Distal muscle weakness	OMIM:615376
Myopathy, Vacuolar, With Casq1 Aggregates	Muscle fiber calsequestrin 1-containing inclusion bodies, Proximal muscle weakness, Muscle weakness	OMIM:616231
Congenital Myasthenic Syndromes With Glycosylation Defect	Difficulty walking, Fatigable weakness, Ragged-red muscle fibers, Scapular winging, Facial palsy,...	ORPHA:353327
Neuropathy, Congenital Hypomyelinating, 2	Poor head control, Distal amyotrophy, Facial diplegia, Respiratory insufficiency due to muscle we...	OMIM:618184
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Decreased mot...	OMIM:118200
Inclusion Body Myositis	Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Proxim...	ORPHA:611
Gne Myopathy	Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Facia...	ORPHA:602
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Distal amyotrophy, Hammertoe, Distal muscle weakness	OMIM:610100
Charcot-Marie-Tooth Disease Type 1A	Diaphragmatic weakness, Decreased sensory nerve conduction velocity, Calf muscle hypertrophy, Dis...	ORPHA:101081
Nonaka Myopathy	Distal lower limb muscle weakness, Deposits immunoreactive to beta-amyloid protein, Distal amyotr...	OMIM:605820
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Distal muscle weakness, Distal amyotrophy, Abnormal motor nerve conduction velocity	OMIM:158580
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Inability to walk, Axonal degeneration, Broad-based gait, Peripheral axonal neuropathy, Intrinsic...	OMIM:615490
Oculopharyngeal Muscular Dystrophy 1	Neck muscle weakness, Ragged-red muscle fibers, Facial palsy, Distal muscle weakness, Limb muscle...	OMIM:164300
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Hereditary Myopathy With Early Respiratory Failure	Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m...	ORPHA:178464
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Inability to walk, Abnormality of the Achilles tendon, Distal lower limb amyotroph...	ORPHA:431329
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Decreased nerve conduction velocity, Axonal degeneration, Distal amyotrophy, Spinal muscular atro...	OMIM:604320
Mitochondrial Myopathy With Diabetes	Neck muscle weakness, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakn...	OMIM:500002
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Distal lower limb muscle weakness, Distal lower limb amyotrophy, Decreased compound muscle action...	OMIM:600882
X-Linked Charcot-Marie-Tooth Disease Type 3	Difficulty walking, Inability to walk, Peripheral axonal neuropathy, Distal upper limb amyotrophy...	ORPHA:101077
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Decreased mot...	OMIM:118220
X-Linked Charcot-Marie-Tooth Disease Type 6	Distal lower limb amyotrophy, Thenar muscle atrophy, Decreased nerve conduction velocity, Lower l...	ORPHA:352675
Amyotrophic Lateral Sclerosis 21	Distal lower limb muscle weakness, Decreased nerve conduction velocity, Abnormal upper motor neur...	OMIM:606070
Autosomal Dominant Spastic Paraplegia Type 17	Ankle weakness, Distal amyotrophy, Abnormality of the foot musculature, Split hand, Hand muscle w...	ORPHA:100998
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Rimmed vacuoles, Scapuloperoneal weakness, Shoulder girdle muscle atrophy, Peroneal muscle atroph...	OMIM:181400
Macular Degeneration, Age-Related, 3	Distal amyotrophy, Decreased nerve conduction velocity, Distal muscle weakness	OMIM:608895
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Peripheral axonal neuropathy, Axonal degeneration/regeneration, Onion bulb formation, Peripheral ...	OMIM:620378
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Basal lamina onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decrea...	OMIM:614895
X-Linked Charcot-Marie-Tooth Disease Type 4	Decreased nerve conduction velocity, Skeletal muscle atrophy, Distal muscle weakness	ORPHA:101078
Charcot-Marie-Tooth Disease And Deafness	Hammertoe, Ankle weakness, Distal amyotrophy, Split hand, Limb muscle weakness, Distal muscle wea...	OMIM:118300
Neuropathy, Hereditary Motor And Sensory, Russe Type	Distal lower limb muscle weakness, Distal lower limb amyotrophy, Peripheral hypomyelination, Claw...	OMIM:605285
Alpha-B Crystallin-Related Late-Onset Myopathy	Accumulation of muscle fiber desmin, Neck muscle weakness, Muscle fiber inclusion bodies, Facial ...	ORPHA:399058
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Foot joint contracture, Sen...	ORPHA:457205
Myopathy, Distal, 5	Muscle fiber splitting, Distal lower limb muscle weakness, Distal upper limb muscle weakness, Dis...	OMIM:617030
Monomelic Amyotrophy	Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of peripheral nerv...	ORPHA:65684
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5	First dorsal interossei muscle atrophy, Hammertoe, Distal amyotrophy, Upper limb muscle weakness,...	OMIM:600794
Moderate Multiminicore Disease With Hand Involvement	Distal upper limb muscle weakness, Generalized muscle weakness, Facial palsy, Axial muscle weakne...	ORPHA:178145
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Vestibular schwannoma, Steppage gait, Decreased compound muscle action potential amplitude, Foot ...	OMIM:613641
Congenital Myopathy 10A, Severe Variant	Poor head control, Diaphragmatic weakness, Diaphragmatic paralysis, Facial palsy, EMG: myopathic ...	OMIM:614399
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased sensory nerve conduction velocity, Hypertrophic nerve changes, Peripheral demyelination...	OMIM:145900
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Ragged-red muscle fibers, Facial palsy, Proximal muscle weakness in lower limbs, Neck flexor weak...	OMIM:616209
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Skeletal muscle hypertrophy, Peripheral axonal neuropathy, S...	ORPHA:101082
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Proximal muscle weakness in upper limbs, Decreased nerve conduction velocity, Distal lower limb m...	ORPHA:435387
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Steppage gait, Axonal degeneration, Upper limb muscle weakness, Gait disturbance, Foot dorsiflexo...	OMIM:616155
X-Linked Charcot-Marie-Tooth Disease Type 1	Abnormal nerve conduction velocity, Distal upper limb amyotrophy, Gait disturbance, Ataxia, Dista...	ORPHA:101075
Multifocal Motor Neuropathy	Progressive muscle weakness, Motor conduction block, Limb muscle weakness, Progressive distal mus...	ORPHA:641
Autosomal Recessive Spastic Paraplegia Type 21	Frontotemporal cerebral atrophy, Difficulty walking, Gait disturbance, Abnormality of peripheral ...	ORPHA:101001
Spastic Paraplegia 17, Autosomal Dominant	First dorsal interossei muscle atrophy, Distal amyotrophy, Split hand, Distal muscle weakness, Fi...	OMIM:270685
Charcot-Marie-Tooth Disease Type 4A	Decreased nerve conduction velocity, Hammertoe, Limited interphalangeal movement, Distal amyotrop...	ORPHA:99948
Welander Distal Myopathy	Distal amyotrophy, Rimmed vacuoles, Distal muscle weakness	OMIM:604454
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Muscle fiber splitting, Muscular dystrophy, Decreased compound muscle action potential amplitude,...	OMIM:603511
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity, EMG: myopathic abnormalities, Increased variability in muscl...	ORPHA:397744
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Distal amyotrophy, Split hand, Distal muscle weakness, Proximal muscle weakness, Decreased motor ...	OMIM:607831
Zebra Body Myopathy	Muscle fiber splitting, Neck muscle weakness, Torticollis, Gowers sign, Rimmed vacuoles, Facial p...	ORPHA:97240
Charcot-Marie-Tooth Disease, Type 4B3	Distal lower limb muscle weakness, Decreased nerve conduction velocity, Brain atrophy, Upper limb...	OMIM:615284
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity, Micromelia, Camptodactyly of finger, Brachydactyly, Muscle w...	ORPHA:2928
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Neck muscle weakness, Scapular winging, Angulated muscle fibers, Weakness of facial musculature, ...	OMIM:619477
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Hip flexor weakness, Reduced maximal inspiratory pressure, Facial hypotonia, Autophagic vacuoles,...	ORPHA:266
Charcot-Marie-Tooth Disease Type 4D	Distal lower limb muscle weakness, Distal upper limb muscle weakness, Hammertoe, Lower limb amyot...	ORPHA:99950
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Muscular dystrophy, Calf muscle pseudohypertrophy, Gowers sign, Facial palsy, EMG: myopathic abno...	OMIM:254110
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diameter, P...	OMIM:618848
Leukodystrophy, Hypomyelinating, 18	Decreased nerve conduction velocity, Atrophy/Degeneration affecting the brainstem, Cerebellar atr...	OMIM:618404
Charcot-Marie-Tooth Disease, Axonal, Type 2D	First dorsal interossei muscle atrophy, Hammertoe, Distal amyotrophy, Upper limb muscle weakness,...	OMIM:601472
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Inclusion Body Myositis	Distal muscle weakness, Rimmed vacuoles, Proximal muscle weakness, Inflammatory myopathy	OMIM:147421
Mitochondrial Dna Depletion Syndrome 18	Axonal degeneration, Distal amyotrophy, Failure to thrive, Hand muscle atrophy, Foot dorsiflexor ...	OMIM:618811
Spinal Muscular Atrophy, Type Iv	Calf muscle hypertrophy, Rimmed vacuoles, Muscle fiber necrosis, Spinal muscular atrophy, Increas...	OMIM:271150
Combined Oxidative Phosphorylation Defect Type 13	Poor head control, Ankle flexion contracture, Decreased nerve conduction velocity, Lower limb hyp...	ORPHA:319514
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Plantar flexion contracture, Axonal degeneration, Peripheral axonal neuropathy, Fiber type groupi...	OMIM:620011
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Myasthenic Syndrome, Congenital, 12	Neck muscle weakness, Fatigable weakness, Ragged-red muscle fibers, Gowers sign, Facial palsy, Pr...	OMIM:610542
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Axonal degeneration, Gait disturbance, Proximal amyotrophy, Decreased number of peripheral myelin...	OMIM:604484
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Segmental peripheral demyelination, Axonal degeneration/regeneration, Onion bulb formation, Segme...	OMIM:606483
Charcot-Marie-Tooth Disease Type 4G	Decreased distal sensory nerve action potential, Peripheral axonal neuropathy, Demyelinating peri...	ORPHA:99953
Vocal Cord And Pharyngeal Distal Myopathy	Decreased nerve conduction velocity, Ankle weakness, Bulbar palsy, Distal upper limb amyotrophy, ...	ORPHA:600
Adult-Onset Distal Myopathy Due To Vcp Mutation	Decreased nerve conduction velocity, Abnormality of the musculature of the lower limbs, Necrotizi...	ORPHA:329478
Oculopharyngodistal Myopathy 2	External ophthalmoplegia, Bulbar palsy, Rimmed vacuoles, EMG: myopathic abnormalities, Distal mus...	OMIM:618940
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Acute rhabdomyolysis, Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Short st...	OMIM:604168
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	Generalized muscle weakness, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities...	OMIM:609283
Myopathy, Sarcoplasmic Body	Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Axial muscle weakness, Increased var...	OMIM:620286
Nemaline Myopathy 6	Facial palsy, Nemaline bodies, Limb muscle weakness, Skeletal muscle atrophy, Neck flexor weaknes...	OMIM:609273
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Neck flexor weakness, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness,...	ORPHA:457050
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Decreased nerve conduction velocity, Skeletal muscle atrophy	OMIM:183050
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Onion bulb formation, Decreased compound muscle action potential amplitude, Peripheral demyelination	OMIM:618279
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Flexion limitatio...	OMIM:609115
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hyperlipidemia, Hyperchol...	OMIM:232700
Metachromatic Leukodystrophy Due To Saposin B Deficiency	CNS demyelination, Decreased nerve conduction velocity, Peripheral demyelination	OMIM:249900
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation	OMIM:182815
Ataxia-Deafness-Intellectual Disability Syndrome	Cerebral cortical atrophy, Decreased nerve conduction velocity, Skeletal muscle atrophy	ORPHA:1188
Charcot-Marie-Tooth Disease, Type 4B2	Decreased motor nerve conduction velocity, Onion bulb formation, Decreased number of peripheral m...	OMIM:604563
Krabbe Disease	Optic atrophy, Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, CNS ...	OMIM:245200
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Diff...	OMIM:619279
Distal Myopathy, Welander Type	Distal upper limb muscle weakness, Distal upper limb amyotrophy, Rimmed vacuoles, EMG: myopathic ...	ORPHA:603
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination	OMIM:250850
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He...	OMIM:607616
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Decreased distal sensory nerve action potential, Hammertoe, Distal amyotrophy, Distal muscle weak...	OMIM:618400
Myasthenic Syndrome, Congenital, 18	Difficulty walking, Ataxia, Fatigable weakness, Knee flexion contracture	OMIM:616330
Mitochondrial Myopathy, Infantile, Transient	Increased muscle glycogen content, Neck muscle weakness, Ragged-red muscle fibers, Facial palsy, ...	OMIM:500009
Myopathy, Myofibrillar, 5	Muscle fiber splitting, Proximal muscle weakness, Muscle fiber cytoplasmatic inclusion bodies, My...	OMIM:609524
Myopathy, Scapulohumeroperoneal	Progressive muscle weakness, Facial palsy, Scapular winging, Nemaline bodies, Increased variabili...	OMIM:616852
Myopathy, Distal, 1	Distal lower limb muscle weakness, Neck muscle weakness, Ragged-red muscle fibers, Tibialis anter...	OMIM:160500
Tibial Muscular Dystrophy	Distal upper limb muscle weakness, Ankle weakness, Rimmed vacuoles, EMG: myopathic abnormalities,...	ORPHA:609
Combined Oxidative Phosphorylation Deficiency 13	Poor head control, Decreased nerve conduction velocity, Skeletal muscle atrophy	OMIM:614932
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination	OMIM:311070
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebral atrophy, Peripheral axonal neuropathy, Distal amyotrophy, Cerebellar atrophy, Decreased ...	OMIM:607250
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Weak extraocular muscles, Abnormal Z disk morphology...	OMIM:618654
Spinocerebellar Ataxia, Autosomal Recessive 32	Hypomimic face, Limb ataxia, Torticollis, Abnormal nerve conduction velocity, Atrophy/Degeneratio...	OMIM:619862
Amyotrophy, Hereditary Neuralgic	Axonal degeneration, Short stature, Brachial plexus neuropathy, Skeletal muscle atrophy, Peripher...	OMIM:162100
Distal Nebulin Myopathy	Neck flexor weakness, Ankle flexion contracture, Progressive proximal muscle weakness, EMG: myopa...	ORPHA:399103
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb mus...	OMIM:301075
Myofibrillar Myopathy 11	Type 1 muscle fiber predominance, Gowers sign, Calf muscle hypertrophy, EMG: myopathic abnormalit...	OMIM:619178
Myasthenic Syndrome, Congenital, 15	Multiple joint contractures, Difficulty walking, Fatigable weakness	OMIM:616227
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination	OMIM:607791
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist...	OMIM:601954
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Generalized muscle weakness, Calf...	OMIM:608358
Myasthenic Syndrome, Congenital, 5	Fatigable weakness, Prolonged miniature endplate currents, Decreased size of nerve terminals, Lim...	OMIM:603034
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Rimmed vacuoles, Abdominal wall muscle weakness, Increased variabi...	OMIM:615424
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Rimmed vacuoles, Scapular winging, Abdominal wall muscle...	OMIM:619733
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Scapular winging, Distal muscle weak...	OMIM:601846
Congenital Myopathy 23	Neck muscle weakness, Gowers sign, Facial diplegia, Scapular winging, Nemaline bodies, Limb muscl...	OMIM:609285
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Muscular dystrophy, Rimmed vacuoles, Scapular winging, Autophagic vacuoles, EMG: myopathic abnorm...	OMIM:608423
Hypoalphalipoproteinemia, Primary, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:604091
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,...	ORPHA:206549
Postsynaptic Congenital Myasthenic Syndromes	Hip flexor weakness, Fatigable weakness of respiratory muscles, Abnormality of masticatory muscle...	ORPHA:98913
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Limb ataxia, Axonal degeneration, Truncal ataxia, Distal amyotrophy, Cerebellar atrophy, Gait ata...	OMIM:208920
Myopathy, Myofibrillar, 3	Muscle fiber splitting, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myofibril...	OMIM:609200
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Muscle fiber splitting, Poor head control, Fatigable weakness, Facial palsy, Limb muscle weakness...	OMIM:616313
X-Linked Charcot-Marie-Tooth Disease Type 5	Optic atrophy, Skeletal muscle hypertrophy, Abnormal nerve conduction velocity, Muscle weakness	ORPHA:99014
Myopathy, Centronuclear, 1	Proximal upper limb amyotrophy, External ophthalmoplegia, Proximal muscle weakness in upper limbs...	OMIM:160150
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Dist...	OMIM:617760
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Fatigable weakness, Prolonged miniature endplate currents, Upper limb muscle weakness, Decreased ...	OMIM:601462
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Distal amyotrophy, Split hand, Distal muscle weakness, Intrinsic hand muscle atrophy, Decreased a...	OMIM:616688
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral axonal neuropathy, Peripheral demyelination	ORPHA:231445
Tubular Aggregate Myopathy	Fatigable weakness, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased vari...	ORPHA:2593
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Onion bulb formation	OMIM:616039
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Gowers sign, Wrist flexion contracture, Nemaline bodies, Limb-girdle muscle weakness, Increased v...	OMIM:620386
Fish-Eye Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:136120
Amyotrophic Lateral Sclerosis 28	Rimmed vacuoles, Upper limb muscle weakness, Fiber type grouping, Skeletal muscle atrophy, Muscle...	OMIM:620452
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Ankle flexion contracture, Gowers sign, Calf muscle hypertrophy, Scapular winging, EMG: myopathic...	OMIM:608099
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Axonal regeneration, Onion bulb formation, Peripheral demyelination	OMIM:615185
Spinal Muscular Atrophy, Infantile, James Type	Distal amyotrophy, Distal muscle weakness, Increased variability in muscle fiber diameter, Hip co...	OMIM:619042
Roussy-Lévy Syndrome	Genu valgum, Distal amyotrophy, Intrinsic hand muscle atrophy, Skeletal muscle atrophy, Decreased...	ORPHA:3115
Myasthenic Syndrome, Congenital, 3A, Slow-Channel	Loss of ambulation, Prolonged miniature endplate currents, Decreased miniature endplate potentials	OMIM:616321
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Ankle flexion contracture, Generalized muscle weakness, Central core regions in muscle fibers, Ne...	OMIM:117000
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Anemia, Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia	OMIM:608898
Congenital Myopathy 6 With Ophthalmoplegia	Neck muscle weakness, Muscle fiber inclusion bodies, Generalized muscle weakness, Scapular wingin...	OMIM:605637
Muscle Filaminopathy	Muscle fiber splitting, Neck flexor weakness, Abnormality of masticatory muscle, Weakness of faci...	ORPHA:171445
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly, Hypercho...	ORPHA:75234
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Generalized muscle weakness, Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, In...	ORPHA:34516
Myasthenic Syndrome, Congenital, 25, Presynaptic	Poor head control, Decreased compound muscle action potential amplitude, Generalized amyotrophy, ...	OMIM:618323
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Claw hand deformity, Hammertoe, Distal amyotrophy, Abnormal ...	OMIM:601455
Congenital Myopathy 3 With Rigid Spine	Muscular dystrophy, Poor head control, Type 1 and type 2 muscle fiber minicore regions, Generaliz...	OMIM:602771
Myopathy, Myofibrillar, 2	Muscle fiber splitting, Muscular dystrophy, Neck muscle weakness, Late-onset proximal muscle weak...	OMIM:608810
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers	OMIM:607677
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Interictal epil...	OMIM:218000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11	Distal lower limb muscle weakness, Difficulty walking, Steppage gait, Claw hand deformity, Decrea...	OMIM:620528
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity	ORPHA:640
Wild Type Abeta2M Amyloidosis	Decreased nerve conduction velocity, Abnormality of the thenar eminence, Abnormal tendon morpholo...	ORPHA:85446
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Muscle fiber splitting, Diaphragmatic weakness, Calf muscle hypertrophy, Rimmed vacuoles, Scapula...	OMIM:603689
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormal seventh cranial physiology, Inability to walk, Upper limb muscle weakness, Abnormal peri...	ORPHA:90117
Lethal Congenital Contracture Syndrome 5	Decreased nerve conduction velocity, EEG with burst suppression, Congenital contracture, Centrall...	OMIM:615368
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Fatigable weakness, Decreased miniature endplate potentials, Limb muscle weakness, Generalized hy...	OMIM:605809
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Axonal regeneration, Decreased number of peripheral myelinated nerve fibers	OMIM:607731
Multiminicore Myopathy	Muscular dystrophy, Proximal muscle weakness in upper limbs, External ophthalmoplegia, Distal mus...	ORPHA:598
Congenital Myopathy 14	Neck muscle weakness, Knee flexion contracture, Generalized muscle weakness, Elbow flexion contra...	OMIM:618414
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome...	OMIM:613101
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Acute demyelinating polyneuropathy, Onion bulb formation	ORPHA:98916
Spinocerebellar Ataxia Type 1	Optic atrophy, Progressive cerebellar ataxia, Abnormal nerve conduction velocity, Abnormality of ...	ORPHA:98755
Early-Onset X-Linked Optic Atrophy	Optic atrophy, Decreased nerve conduction velocity, Optic disc pallor	ORPHA:98890
Digital Extensor Muscle Aplasia-Polyneuropathy	Muscular dystrophy, Abnormal nerve conduction velocity, Aplasia/Hypoplasia involving the skeletal...	ORPHA:2926
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Muscle fiber splitting, Scapular winging, Abdominal wall muscle weakness, Increased variability i...	OMIM:618129
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Inflammation...	OMIM:300635
Nemaline Myopathy 2	Sternocleidomastoid amyotrophy, Respiratory insufficiency due to muscle weakness, Muscle fiber sp...	OMIM:256030
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Facial palsy, Decreased miniature endplate potentials, Limb muscle weakness, Weakness of facial m...	OMIM:608930
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of large periphe...	OMIM:617087
Myasthenic Syndrome, Congenital, 6, Presynaptic	Fatigable weakness, Decreased miniature endplate potentials, Generalized hypotonia due to defect ...	OMIM:254210
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Gowers sign, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle weakness, Pr...	OMIM:612937
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Miyoshi Muscular Dystrophy 1	Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal mu...	OMIM:254130
Finnish Upper Limb-Onset Distal Myopathy	Amyotrophy of ankle musculature, Rimmed vacuoles, Split hand, EMG: myopathic abnormalities, Weakn...	ORPHA:399086
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Peripheral demyelination, Onion bulb formation, Decreased number of large peripheral myelinated n...	OMIM:608340
Muscular Dystrophy, Limb-Girdle, Type 1H	Muscular dystrophy, Calf muscle hypertrophy, Centrally nucleated skeletal muscle fibers, Shoulder...	OMIM:613530
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Akinesia, Gait imbalance, Falls, Freezing of gait, Unsteady gait, Loss of ambulation, Short stepp...	ORPHA:240094
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Distal amyotrophy, Abnormal...	ORPHA:139578
Acromicric Dysplasia	Decreased nerve conduction velocity, Abnormal femur morphology, Short metacarpal, Short palm, Fif...	ORPHA:969
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Ragged-red muscle fibers, Scapular winging, Progressive external ophthalmoplegia, Skeletal muscle...	OMIM:617069
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Mental deterioration	OMIM:615924
Charcot-Marie-Tooth Disease Type 1F	Optic nerve hypoplasia, Gait ataxia, Flexion contracture of finger, Decreased number of large per...	ORPHA:101085
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Acute rhabdomyolysis, Peripheral hypomyelination, Flexion contracture of toe, Finger joint contra...	ORPHA:48431
Distal Myopathy, Tateyama Type	Neck muscle weakness, Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of th...	ORPHA:488650
Congenital Myopathy With Myasthenic-Like Onset	Type 1 muscle fiber predominance, Fatigable weakness, Scapular winging, EMG: myopathic abnormalit...	ORPHA:424107
Oculopharyngeal Muscular Dystrophy	Ragged-red muscle fibers, Rimmed vacuoles, Ophthalmoplegia, Abnormal muscle fiber morphology, Myo...	ORPHA:270
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	External ophthalmoplegia, Decreased sensory nerve conduction velocity, Increased variability in m...	OMIM:619026
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, EEG abnormality, Peripheral demyelination, Axonal loss	OMIM:221770
Myopathy, Distal, 3	Muscular dystrophy, Late-onset proximal muscle weakness, Distal amyotrophy, Rimmed vacuoles, Spli...	OMIM:610099
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Muscular dystrophy, Muscle weakness, Central core regions in muscle fibers	OMIM:159050
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Abnormality of visual evoked potentials, Cachexia, Decreased nerve conduction velocity, Skeletal ...	ORPHA:1933
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Distal amyotrophy, Rimmed vacuoles, Facial palsy, Scapular winging, Progressive proximal muscle w...	OMIM:167320
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Distal muscle weakness, Increased variability in muscle fiber d...	OMIM:620235
Myopathy, Distal, Tateyama Type	Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce...	OMIM:614321
Myasthenic Syndrome, Congenital, 14	Knee flexion contracture, Fatigable weakness, Ragged-red muscle fibers, Gowers sign, Scapular win...	OMIM:616228
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Sca...	OMIM:300696
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Chronic axonal neuropathy, Decreased number of small peripheral myelinated nerve fibers, Clusters...	ORPHA:101097
X-Linked Charcot-Marie-Tooth Disease Type 2	Distal lower limb muscle weakness, Distal lower limb amyotrophy, Peroneal muscle weakness, Tibial...	ORPHA:101076
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormal peripheral nerve morphology by anatomical site, Axonal degeneration, Camptodactyly, Gait...	ORPHA:88628
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:615703
Congenital Myopathy 4A, Autosomal Dominant	Generalized muscle weakness, Bulbar palsy, Facial palsy, Type 1 fibers relatively smaller than ty...	OMIM:255310
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Axonal degeneration/regeneration, Peripheral demyelination	OMIM:607736
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria	Abnormal cranial nerve morphology, Ophthalmoplegia, Abnormal mitochondria in muscle tissue, Muscl...	OMIM:258470
Muscular Dystrophy, Congenital, Lmna-Related	Proximal upper limb amyotrophy, Muscular dystrophy, Poor head control, Neck muscle weakness, Uppe...	OMIM:613205
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	EEG with generalized slow activity, Decreased number of peripheral myelinated nerve fibers	ORPHA:2386
Cataract-Ataxia-Deafness Syndrome	Short stature, Decreased nerve conduction velocity, Ataxia	ORPHA:1368
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul...	OMIM:603471
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Muscular dystrophy, EMG: myopathic abnormalities, Distal muscle weakness, Increased variability i...	OMIM:608807
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Frontalis muscle weakness, Facial palsy, Decreased body weight, Type 1 fibers relatively smaller ...	OMIM:300580
Myopathy, Myofibrillar, 4	Muscle fiber splitting, Progressive muscle weakness, Progressive proximal muscle weakness, Autoph...	OMIM:609452
Ullrich Congenital Muscular Dystrophy	Diaphragmatic weakness, Torticollis, Generalized muscle weakness, Elbow flexion contracture, Abno...	ORPHA:75840
Charcot-Marie-Tooth Disease, Type 4K	Peripheral demyelination, Axonal loss	OMIM:616684
Merrf	Optic atrophy, Ragged-red muscle fibers, Myopathy	ORPHA:551
Glycogen Storage Disease Ixd	Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Distal amyotr...	OMIM:300559
Primary Lateral Sclerosis, Juvenile	Spastic gait, Decreased compound muscle action potential amplitude, Abnormal upper motor neuron m...	OMIM:606353
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,...	OMIM:620135
Congenital Myopathy 20	Short finger, Gowers sign, Scapular winging, Nemaline bodies, Congenital contracture, Increased v...	OMIM:620310
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Muscular dystrophy, Torticollis, Gowers sign, Increased variability in muscle fiber diameter, Ske...	OMIM:613204
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased sensory nerve conduction velocity, Chronic axonal neuropathy, Skeletal muscle atrophy, ...	OMIM:162400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i...	OMIM:253601
Leukodystrophy, Hypomyelinating, 24	Cerebral atrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Flexio...	OMIM:619851
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Distal lower limb muscle weakness, Distal upper limb muscle weakness, Autoamputation of digits, D...	OMIM:613640
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Respiratory insufficiency due to...	OMIM:300718
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Calf muscle hypertrophy, Type 2 m...	OMIM:620375
Congenital Myopathy 18	Axial muscle weakness, Increased variability in muscle fiber diameter, Centrally nucleated skelet...	OMIM:620246
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Ragged-red muscle fibers, Distal muscle weakness, Progressive external ophthalmoplegia, Rhabdomyo...	OMIM:617070
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Decreased body weight, Peripheral demyelination, Axonal loss	OMIM:617672
Congenital Myopathy 24	Gowers sign, Facial palsy, Scapular winging, Nemaline bodies, Muscle weakness, Type 1 muscle fibe...	OMIM:617336
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen...	OMIM:612526
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Hammertoe, Distal muscle weakness, Increased variability in muscle fiber diameter, Skeletal muscl...	OMIM:620542
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Progressive proximal muscle weakness, Abnormal mitochondria in muscle t...	ORPHA:663
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, N...	OMIM:619566
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Optic atrophy, Distal amyotrophy, Limb muscle weakness, Distal muscle weakness, Abnormality of vi...	OMIM:601152
Mitochondrial Neurogastrointestinal Encephalomyopathy	External ophthalmoplegia, Decreased sensory nerve conduction velocity, Ragged-red muscle fibers, ...	ORPHA:298
Tibial Muscular Dystrophy, Tardive	Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, EMG: myopathic abnormaliti...	OMIM:600334
Spinocerebellar Ataxia Type 27	Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Gait disturbance, Gait ataxia	ORPHA:98764
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, CNS hypomyelination, Decreased motor ...	OMIM:610532
Myopathy, Centronuclear, 2	Gowers sign, Facial palsy, EMG: myopathic abnormalities, Scapular winging, Distal muscle weakness...	OMIM:255200
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Optic atrophy, Decreased nerve conduction velocity, Distal amyotrophy, Cerebellar atrophy, Achill...	OMIM:612674
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Gowers sign, Bilateral talipes equinovarus, Increased variability in muscle fiber diameter, Centr...	OMIM:618484
Spastic Paraplegia 55, Autosomal Recessive	Optic atrophy, Peripheral axonal neuropathy, Onion bulb formation	OMIM:615035
Myopathy, Centronuclear, 4	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle weakness	OMIM:614807
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l...	OMIM:616924
Congenital Myopathy 10B, Mild Variant	Increased endomysial connective tissue, Neck flexor weakness, Generalized limb muscle atrophy, Ty...	OMIM:620249
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Difficulty walking, Inability to walk, Fatigable weakness of skeletal muscles, Frontal cortical a...	ORPHA:206559
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Lower limb amyotrophy, Cerebellar atrophy, Upper limb muscle weakness, Congenital finger flexion ...	ORPHA:466768
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Spinal Muscular Atrophy, X-Linked 2	Decreased compound muscle action potential amplitude, Facial palsy, Spinal muscular atrophy, Arth...	OMIM:301830
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia	OMIM:306000
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Abnormal anterior horn cell morphology, Inflammatory myopathy, Weaknes...	ORPHA:1145
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Neck muscle weakness, Distal amyotrophy, Rimmed vacu...	OMIM:619473
Bethlem Muscular Dystrophy	Gowers sign, Progressive proximal muscle weakness, Wrist flexion contracture, Distal muscle weakn...	ORPHA:610
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Peripheral demyelination	OMIM:616733
Lethal Congenital Contracture Syndrome 8	Peripheral hypomyelination, Facial diplegia	OMIM:616287
Peroxisome Biogenesis Disorder 8B	Optic atrophy, Failure to thrive, Leukodystrophy, Peripheral demyelination	OMIM:614877
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Increased LDL cholesterol concentration	OMIM:610947
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Leukopenia, Splenomeg...	OMIM:278000
Laing Early-Onset Distal Myopathy	Neck muscle weakness, Progressive muscle weakness, Weakness of orbicularis oculi muscle, EMG: myo...	ORPHA:59135
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Decreased sensory nerve conduction velocity, Upper limb muscle weakness, Optic neu...	ORPHA:320375
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Decreased numbe...	OMIM:201300
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Hemolytic anemia, Decreased HDL cholesterol concentration, Normochromic anemia	OMIM:245900
Ataxia-Pancytopenia Syndrome	Decreased nerve conduction velocity, Cerebellar atrophy, Unsteady gait, Ataxia, Dysmetria	OMIM:159550
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers, Fatty replacement o...	OMIM:618823
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Neuronal loss in central ne...	OMIM:256600
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Muscular dystrophy, Neck muscle weakness, Axial muscle weakness, Increased variability in muscle ...	OMIM:617066
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Muscular dystrophy, Scapular winging, Increased variability in muscle fiber diameter, Centrally n...	OMIM:612999
Lipase Deficiency, Combined	Hypertriglyceridemia, Pancreatitis	OMIM:246650
Spastic Ataxia, Charlevoix-Saguenay Type	Spastic gait, Decreased sensory nerve conduction velocity, Falls, Cerebellar vermis atrophy, Dist...	OMIM:270550
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Muscle we...	OMIM:603472
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Poor head control, Generalized muscle weakness, Nemaline bodies, Increased variability in muscle ...	OMIM:620265
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Muscular dystrophy, Ankle flexion contracture, Distal muscle weakness, Increased variability in m...	OMIM:617072
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Perianal abscess, Abnormal emotion, Jaundice, Increased circulating chylomi...	ORPHA:444490
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Cednik Syndrome	Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia, Short stature	ORPHA:66631
Alpha-1-Antitrypsin Deficiency	Gastric varix, Cirrhosis, Hepatocellular carcinoma, Splenomegaly, Reduced circulating alpha-1-ant...	OMIM:613490
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Proximal muscle weakness in upper limbs, Type 1 muscle fiber predominance, Limb muscle weakness, ...	OMIM:613954
Neuromuscular Oculoauditory Syndrome	Poor head control, Decreased nerve conduction velocity, Calf muscle hypertrophy, Wrist flexion co...	OMIM:618733
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ragged-red muscle fibers, Myopathy, Muscle weakness	OMIM:545000
Spinocerebellar Ataxia Type 43	Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers	ORPHA:497764
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Peripheral axonal neuropathy, Distal amyotrophy, Atrophy of the spinal cord, Decreased amplitude ...	OMIM:256840
Synaptic Congenital Myasthenic Syndromes	Abnormal synaptic transmission at the neuromuscular junction, Scapular winging, Facial palsy, Pro...	ORPHA:98915
Congenital Myopathy 1B, Autosomal Recessive	Muscular dystrophy, External ophthalmoplegia, Type 1 and type 2 muscle fiber minicore regions, Ge...	OMIM:255320
Amyotrophic Lateral Sclerosis 20	Muscular dystrophy, Rimmed vacuoles, Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies	OMIM:615426
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Distal upper limb muscle weakness, Progressive proximal muscle weakness, Muscle fiber necrosis, I...	OMIM:620138
Trigeminal Neuralgia	CNS demyelination, Peripheral demyelination, Cranial nerve compression	ORPHA:221091
Combined Oxidative Phosphorylation Defect Type 29	Global brain atrophy, Axonal degeneration, Abnormal autonomic nervous system physiology, Optic ne...	ORPHA:478029
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi...	ORPHA:158057
Scapuloperoneal Spinal Muscular Atrophy	Muscle fiber splitting, Diaphragmatic weakness, Peroneal muscle weakness, Torticollis, Amyoplasia...	OMIM:181405
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Muscular dystrophy, Gowers sign, Calf muscle hypertrophy, Triceps weakness, Limb-girdle muscle we...	ORPHA:86812
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Distal lower limb muscle weakness, Decreased compound muscle action potential amplitude, Scapular...	OMIM:620080
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers	OMIM:607080
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral demyelination	OMIM:609033
Congenital Multicore Myopathy With External Ophthalmoplegia	Internally nucleated skeletal muscle fibers, Muscular dystrophy, External ophthalmoplegia, Tibial...	ORPHA:98905
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Spinocerebellar Ataxia 1	Optic atrophy, Decreased sensory nerve conduction velocity, Bulbar palsy, Distal amyotrophy, Dist...	OMIM:164400
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Gastric vari...	ORPHA:64743
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Muscular dystrophy, Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion co...	OMIM:607855
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Gowers sign, Muscle fi...	OMIM:253700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Muscular dystrophy, Skeletal muscle hypertrophy, Gowers sign, Calf muscle hypertrophy, Increased ...	OMIM:613157
Neuromyelitis Optica Spectrum Disorder	Peripheral demyelination	ORPHA:71211
Citrullinemia Type Ii	Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Hepatomegaly, Pancre...	ORPHA:247585
Dpm3-Cdg	Muscular dystrophy, Calf muscle hypertrophy, Rimmed vacuoles, Muscle weakness, Pelvic girdle musc...	ORPHA:263494
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, External ophthalmoplegia, Decreased nerve conduction velocity, Hypsarrhythmia, Abn...	ORPHA:485421
Leukodystrophy, Hypomyelinating, 2	Optic atrophy, Demyelinating motor neuropathy, Sensory axonal neuropathy, Facial palsy, Decreased...	OMIM:608804
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundi...	OMIM:267700
Leukoencephalopathy With Dystonia And Motor Neuropathy	Decreased motor nerve conduction velocity, Torticollis	OMIM:613724
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Failure to thrive, Decreased nerve conduction velocity, Cerebellar atrophy	OMIM:618356
Idiopathic Camptocormia	Cerebral atrophy, Fatty replacement of skeletal muscle, Myositis, Abnormal synaptic transmission ...	ORPHA:1320
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Type 1 muscle fiber predominance, Progressive muscle weakness, Shoulder flexion contracture, Nema...	OMIM:605355
Oculopharyngodistal Myopathy 4	External ophthalmoplegia, Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Dis...	OMIM:619790
Infantile Krabbe Disease	Optic atrophy, Poor head control, Delayed brainstem auditory evoked response conduction time, Dec...	ORPHA:206436
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina...	OMIM:616516
Sialidosis Type 1	EEG abnormality, Decreased nerve conduction velocity, Skeletal muscle atrophy, Muscle weakness	ORPHA:812
Hereditary Motor And Sensory Neuropathy, Type Iic	Proximal upper limb amyotrophy, Decreased distal sensory nerve action potential, Proximal muscle ...	OMIM:606071
Myopathy, Autophagic Vacuolar, Infantile-Onset	Autophagic vacuoles, Myopathy	OMIM:609500
Diarrhea 7, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia, Villous atrophy	OMIM:615863
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Symmetric peripheral demyelination, Autonomic erectile dysfunction, Orthostatic hypotension due t...	OMIM:169500
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Generalized muscle weakness, Ragged-red muscle fibers, Cachexia, Progressive external ophthalmopl...	OMIM:613662
Myopathy, X-Linked, With Excessive Autophagy	Gowers sign, Muscle fiber necrosis, Skeletal muscle autophagosome accumulation, Skeletal muscle a...	OMIM:310440
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Ragged-red muscle fibers, Gowers sign, Facial diplegia, EMG: myopathic abnormalities, Limb muscle...	OMIM:609560
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Combined Oxidative Phosphorylation Defect Type 39	Poor head control, Decreased nerve conduction velocity, Limb hypertonia, Congenital foot contract...	ORPHA:565624
Proximal Myopathy With Extrapyramidal Signs	Optic atrophy, Central core regions in muscle fibers, Increased variability in muscle fiber diame...	ORPHA:401768
Combined Oxidative Phosphorylation Deficiency 29	Optic atrophy, Global brain atrophy, Axonal degeneration, Cerebellar atrophy, Optic neuropathy	OMIM:616811
Congenital Myopathy 9A	Obesity, Akinesia	OMIM:618822
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Optic atrophy, Decreased motor nerve conduction velocity, Joint contracture, Skeletal muscle atrophy	OMIM:615419
Amish Nemaline Myopathy	Progressive muscle weakness, Shoulder flexion contracture, EMG: myopathic abnormalities, Hip cont...	ORPHA:98902
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Muscular dystrophy, Neck muscle weakness, Increased variability in muscle fiber diameter, Proxima...	OMIM:614302
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Ullrich Congenital Muscular Dystrophy 1A	Muscular dystrophy, Reduced muscle collagen VI, Torticollis, Facial palsy, Muscle fiber necrosis,...	OMIM:254090
Myasthenic Syndrome, Congenital, 10	Fatigable weakness, Distal amyotrophy, Waddling gait, Proximal amyotrophy, Weakness of facial mus...	OMIM:254300
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased nerve conduction velocity, Sandal gap, Distal amyotrophy, 2-3 toe syndactyly, Distal mu...	ORPHA:477817
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Gowers sign, Scapular winging, Upper limb...	ORPHA:353
Spinocerebellar Ataxia Type 21	Akinesia, Progressive cerebellar ataxia, Gait ataxia	ORPHA:98773
Charcot-Marie-Tooth Disease Type 1E	Distal lower limb muscle weakness, Peroneal muscle weakness, Decreased nerve conduction velocity,...	ORPHA:90658
Central Core Disease	Type 1 muscle fiber predominance, Pelvic girdle muscle weakness, Central core regions in muscle f...	ORPHA:597
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Hereditary Sensory And Autonomic Neuropathy Type 1	Steppage gait, Gait imbalance, Inability to walk, Distal amyotrophy, Abnormality of the autonomic...	ORPHA:36386
Cap Myopathy	Poor head control, Lower limb amyotrophy, Gowers sign, Facial palsy, Increased variability in mus...	ORPHA:171881
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Cerebral cortical atrophy, Failure to thrive, Decreased nerve conduction velocity	OMIM:238970
Arthrogryposis Multiplex Congenita 6	Akinesia, Neonatal death	OMIM:619334
Amyotrophic Lateral Sclerosis 27, Juvenile	Progressive muscle weakness, Generalized muscle weakness, Gowers sign, Scapular winging, Intrinsi...	OMIM:620285
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Ulnar deviation of the 3rd finger, Decreased sensory nerve conduction velocity, Proximal placemen...	ORPHA:456312
Neuropathy, Congenital Hypomyelinating, 3	Hypomimic face, Cachexia, 2-3 toe syndactyly, Facial diplegia, Bilateral talipes equinovarus, Han...	OMIM:618186
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Portal fibrosis, Macrovesicular hepati...	OMIM:605814
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Poor head control, Neck muscle weakness, EMG: myopathic abnormalities, Limb muscle weakness, Incr...	ORPHA:486815
Adrenomyeloneuropathy	Spastic gait, Distal lower limb muscle weakness, Axonal degeneration, Abnormality of peripheral n...	ORPHA:139399
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Myositis, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Skel...	OMIM:615422
Optic Atrophy 11	Optic atrophy, Decreased sensory nerve conduction velocity, Optic nerve hypoplasia, EEG with foca...	OMIM:617302
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Peripheral hypomyelination, Aganglionic megacolon, Decreased nerve conduction velocity, Cerebral ...	OMIM:609136
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Arachnodactyly, Hepatosplenomegaly, Hypoalbuminemia, Hepatic steatosis, Mic...	OMIM:619013
Tangier Disease	Peripheral axonal neuropathy, Facial diplegia, Peripheral demyelination	OMIM:205400
Infantile Neuroaxonal Dystrophy	Optic atrophy, Peripheral axonal neuropathy, Cerebellar atrophy, Abnormal autonomic nervous syste...	ORPHA:35069
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop...	OMIM:620603
Abetalipoproteinemia	CNS demyelination, Peripheral demyelination	OMIM:200100
Metachromatic Leukodystrophy	Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelination	OMIM:250100
Adult Krabbe Disease	CNS demyelination, Delayed brainstem auditory evoked response conduction time, EEG abnormality, P...	ORPHA:206448
Congenital Myopathy 5 With Cardiomyopathy	Generalized muscle weakness, Calf muscle hypertrophy, Increased variability in muscle fiber diame...	OMIM:611705
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Fatigable weakness, Facial palsy, Decreased size of nerve terminals, Decreased muscle mass, Skele...	OMIM:608931
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform...	OMIM:619313
Autosomal Recessive Centronuclear Myopathy	Progressive muscle weakness, Gowers sign, Facial diplegia, Scapular winging, Facial palsy, Genera...	ORPHA:169186
Intrinsic Factor Deficiency	Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic...	OMIM:261000
Hypokalemic Periodic Paralysis	Fatigable weakness of respiratory muscles, Respiratory paralysis, Late-onset proximal muscle weak...	ORPHA:681
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Cerebral atrophy, Decreased sensory nerve conduction velocity, Atrophy/Degeneration affecting the...	OMIM:616192
Atypical Juvenile Parkinsonism	Akinesia, Inability to walk, Shuffling gait, Gait ataxia, Short stepped shuffling gait	ORPHA:391411
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Abnormal platelet morpho...	ORPHA:2978
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Gowers sign, Facial palsy, Muscle weakness, Increased endomysial connective t...	OMIM:602541
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Muscle fiber hyaline bodies, Calf muscle hypertrophy, EMG: myopathic abnormalities, Scapuloperone...	OMIM:255160
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest...	OMIM:615558
Van Den Bosch Syndrome	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors, Scapular winging	ORPHA:3417
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Progressive psychomotor deterioration, Cognitive i...	ORPHA:363400
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Classic Multiminicore Myopathy	Muscular dystrophy, Poor head control, Axial muscle weakness, Generalized amyotrophy, Muscle fibe...	ORPHA:324604
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Temple Syndrome	Hypertriglyceridemia, High palate, Clinodactyly, Bifid uvula, Cleft palate, Hypercholesterolemia,...	OMIM:616222
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Irritability, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopeni...	OMIM:603553
Parkinson Disease 17	Akinesia	OMIM:614203
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis	ORPHA:280356
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Cerebrotendinous Xanthomatosis	Optic atrophy, Tendon xanthomatosis, Global brain atrophy, Decreased nerve conduction velocity, A...	ORPHA:909
Myopathy, Myofibrillar, 8	Neck muscle weakness, Central core regions in muscle fibers, Joint contracture of the 5th finger,...	OMIM:617258
Myopathy, Centronuclear, 5	Axial muscle weakness, Centrally nucleated skeletal muscle fibers, Ophthalmoplegia, Hip contractu...	OMIM:615959
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Steppage gait, Abnormal peripheral nerve morphology by anatomical site, Skeletal muscle atrophy, ...	ORPHA:168563
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Neonatal cholestatic liver disease, Splenomega...	OMIM:214900
Spinocerebellar Ataxia 10	Limb ataxia, Decreased nerve conduction velocity, Progressive cerebellar ataxia, Dysdiadochokines...	OMIM:603516
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Hyperammonemia, Splenomegaly	ORPHA:664
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia, Hemolytic anemia, Cholelithiasis	OMIM:177000
Macrophage Activation Syndrome	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158061
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen...	OMIM:616812
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Biliary tract neoplasm, Ne...	ORPHA:157798
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Increased muscle glycogen content, Ragged-red muscle fibers, Muscle weakness, Increased muscle li...	ORPHA:254864
Attrv30M Amyloidosis	Cardiomegaly, Nephropathy, Cardiomyopathy, Abnormal renal physiology	ORPHA:85447
Warburg Micro Syndrome 4	Optic atrophy, Inability to walk, Severe postnatal growth retardation, Cerebellar atrophy, Cerebr...	OMIM:615663
De Sanctis-Cacchione Syndrome	Optic atrophy, Cerebral atrophy, Global brain atrophy, Scissor gait, Axonal degeneration, Ataxia,...	OMIM:278800
Spastic Paraplegia Type 7	Optic atrophy, Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb hypertonia, Optic...	ORPHA:99013
Spinocerebellar Ataxia Type 25	Decreased number of large peripheral myelinated nerve fibers	ORPHA:101111
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Hypocalcemia, Thin ribs, Ankyloglossia, Asplenia, Hypoplast...	OMIM:602361
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct prol...	OMIM:613027
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy	OMIM:618992
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Abnormal motor neuron morphology, Rimmed vacuoles, EMG: myopathic abnormalities, Cranial nerve co...	ORPHA:52430
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia, Hepatomegaly, Acute pancreatitis	OMIM:608600
Friedreich Ataxia	Optic atrophy, Limb ataxia, Gait imbalance, Inability to walk, Falls, Sensory axonal neuropathy, ...	ORPHA:95
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Lethal Ataxia With Deafness And Optic Atrophy	Optic atrophy, EEG with focal epileptiform discharges, Spinal cord posterior columns myelin loss,...	ORPHA:1187
Hurler-Scheie Syndrome	Short stature, Abnormal nerve conduction velocity	ORPHA:93476
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Hepatic steatosis	OMIM:613877
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, Clinodactyly of the 5th toe, High palate, Clinodactyly of the 5th finger	OMIM:618010
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ...	OMIM:238600
Spinocerebellar Ataxia 21	Limb ataxia, Akinesia, Progressive cerebellar ataxia, Gait ataxia, Ataxia	OMIM:607454
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Progressive muscle weakness, Rimmed vacuoles, Failure to thrive, Centrally nucleated skeletal mus...	OMIM:619518
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Gastric varix, Increased mean corpuscular volume, Clubbing, Esophageal varix, Portal hypertension...	OMIM:620367
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Onion bulb formation, Axonal loss	OMIM:614455
Mitochondrial Complex I Deficiency, Nuclear Type 28	Truncal ataxia, Akinesia, Failure to thrive, Choreoathetosis	OMIM:618249
Yuan-Harel-Lupski Syndrome	Failure to thrive, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity	OMIM:616652
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst...	ORPHA:1414
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia...	ORPHA:540
Smith-Magenis Syndrome	Abnormal nerve conduction velocity, Increased body weight, Short palm, Brachydactyly, EEG abnorma...	OMIM:182290
Combined Oxidative Phosphorylation Deficiency 49	Ragged-red muscle fibers, Progressive muscle weakness	OMIM:619024
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia	OMIM:617885
Autosomal Recessive Spastic Paraplegia Type 25	Abnormality of peripheral nerve conduction	ORPHA:101005
Corticobasal Syndrome	Akinesia, Somatic sensory dysfunction, Gait disturbance	ORPHA:454887
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat...	ORPHA:209902
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s...	OMIM:618652
Perry Syndrome	Akinesia, Short stepped shuffling gait, Weight loss	OMIM:168605
Ménétrier Disease	Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, Stomach canc...	ORPHA:2494
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Irritability, Cirrhosis, Hepatomegaly, Portal fibrosis, Increased hepatic glycogen content, Hepat...	ORPHA:369
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Attention deficit hyperactivity disorder, Abnormal stomach morphology	ORPHA:281090
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Optic atrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Muscle fiber...	OMIM:258450
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level, Hepatomegaly, Hepatic steatosis	OMIM:615238
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Microgastria-Limb Reduction Defect Syndrome	Abnormal finger morphology, Oligodactyly, Tracheoesophageal fistula, Intestinal malrotation, Apla...	ORPHA:2538
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Freezing of gait, Akinesia	OMIM:619911
Peho Syndrome	Optic atrophy, Undetectable visual evoked potentials, Hypsarrhythmia, Peripheral dysmyelination	OMIM:260565
Metachromatic Leukodystrophy, Late Infantile Form	Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Musc...	ORPHA:309256
Marinesco-Sjogren Syndrome	Progressive muscle weakness, Short metatarsal, Rimmed vacuoles, Short metacarpal, Failure to thri...	OMIM:248800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve fibe...	ORPHA:320406
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, H...	ORPHA:264580
Abdominal Obesity-Metabolic Syndrome 4	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:618620
Poliomyelitis	Fatigable weakness of respiratory muscles, Muscle flaccidity, Hypoplasia of the musculature, Bulb...	ORPHA:2912
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Mandibuloacral Dysplasia	Hypertriglyceridemia, Abnormal tongue morphology, Short clavicles, Osteolytic defects of the dist...	ORPHA:2457
Smith-Magenis Syndrome	Hypertriglyceridemia, Clinodactyly of the 5th finger, Gastroesophageal reflux, Hand polydactyly, ...	ORPHA:819
Autosomal Dominant Centronuclear Myopathy	External ophthalmoplegia, Proximal muscle weakness in upper limbs, Large for gestational age, Cal...	ORPHA:169189
Lcat Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote...	ORPHA:650
Metachromatic Leukodystrophy, Juvenile Form	Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Musc...	ORPHA:309263
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperuricemia, Hepatic ...	OMIM:604367
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Abnormal gastric mucosa morphology, Biliary tract abnormality, Conjugated...	ORPHA:234
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Limb ataxia, Decreased distal sensory nerve action potential, Cerebellar vermis atrophy, Cerebell...	OMIM:614575
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Hammertoe, Distal amyotrophy, Distal muscle weakness, Failure to thrive, Facial pa...	ORPHA:99949
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Oculopharyngodistal Myopathy 1	External ophthalmoplegia, Distal amyotrophy, Rimmed vacuoles, Autophagic vacuoles, Facial palsy, ...	OMIM:164310
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis, Radial deviation of finger, Thrombocytopenia, Clinodactyly	OMIM:188025
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Decreased nerve conduction velocity, Abnormal CNS myelination	OMIM:610651
Glycogen Storage Disease Due To Aldolase A Deficiency	EMG: myopathic abnormalities, Skeletal myopathy, Muscle fiber atrophy, Exercise-induced rhabdomyo...	ORPHA:57
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymp...	OMIM:617591
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Hyperuricemia, Splenomegaly, Hepatic...	ORPHA:79083
Juvenile Amyotrophic Lateral Sclerosis	Retrocollis, Lower-limb joint contracture, Cachexia, Distal amyotrophy, Distal muscle weakness, U...	ORPHA:300605
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperuricemia, Hyperlipidemia, Cognitive impairment	ORPHA:364
Lissencephaly Syndrome, Norman-Roberts Type	Rocker bottom foot, Adducted thumb, Hypoplastic spleen, Dysphagia	ORPHA:89844
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:98855
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Xanthelasma, Steatorrhea, Jaundice, Anemia, Hyperkalemia, Microvesicular he...	ORPHA:275761
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Hepatomegaly, Ileus, Elevated circulating creatine kinase concentration, Py...	OMIM:613327
Familial Atrial Myxoma	Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma	ORPHA:615
Spastic Paraplegia 11, Autosomal Recessive	Obesity, Decreased number of peripheral myelinated nerve fibers	OMIM:604360
Immune-Mediated Necrotizing Myopathy	Myositis, Scapular winging, EMG: myopathic abnormalities, Muscle fiber necrosis, Axial muscle wea...	ORPHA:206569
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Ragged-red muscle fibers, EMG: myopathic abnormalities, Obesity, Achilles tendon contracture, Ske...	OMIM:615418
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp...	ORPHA:567548
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia,...	OMIM:277460
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Increased C-peptide level, M...	ORPHA:528
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Mental deterioration, Lymphopenia	OMIM:617575
Ataxia, Sensory, 1, Autosomal Dominant	Decreased amplitude of sensory action potentials, Gait instability, worse in the dark, Gait distu...	OMIM:608984
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:98863
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Optic atrophy, Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve f...	OMIM:271245
Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:98853
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Splenomegaly, Hepatic steatosis	ORPHA:2348
Multiple Sulfatase Deficiency	CNS demyelination, Peripheral demyelination	OMIM:272200
Creatine Phosphokinase, Elevated Serum	Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Abnormal muscle fiber mo...	OMIM:123320
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Hepatocellular car...	ORPHA:79240
Angioedema, Hereditary, 1	Peripheral axonal neuropathy, Axonal degeneration	OMIM:106100
Chediak-Higashi Syndrome	Decreased nerve conduction velocity, Foot dorsiflexor weakness, Muscle weakness	OMIM:214500
Hemochromatosis, Type 1	Hepatomegaly, Azoospermia, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonad...	OMIM:235200
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Orth...	ORPHA:309271
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Limb ataxia, Pontocerebellar atrophy, Chronic axonal neuropathy, Peripheral axonal neuropathy, Di...	OMIM:606002
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly	OMIM:600649
Glutaric Acidemia I	Delayed myelination, Failure to thrive, Symmetrical progressive peripheral demyelination	OMIM:231670
Congenital Myopathy 12	Akinesia, Small for gestational age	OMIM:612540
Japanese Encephalitis	Distal lower limb muscle weakness, Distal upper limb muscle weakness, Muscle flaccidity, Respirat...	ORPHA:79139
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Decreased distal sensory nerve action potential, Proximal muscle weakness in upper...	ORPHA:99956
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Obesity Due To Leptin Receptor Gene Deficiency	Emotional lability, Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia	ORPHA:179494
Friedreich Ataxia	Optic atrophy, Limb ataxia, Decreased sensory nerve conduction velocity, Gait ataxia, Abnormality...	OMIM:229300
Nk-Cell Enteropathy	Duodenal ulcer, Gastroesophageal reflux, Increased T cell count, Abnormal gastric mucosa morpholo...	ORPHA:263665
Kufor-Rakeb Syndrome	Akinesia, Ataxia, Distal sensory impairment, Gait disturbance	OMIM:606693
Infantile Sialic Acid Storage Disease	Cardiomegaly, Hepatomegaly, Splenomegaly, Nephrotic syndrome	OMIM:269920
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Akinesia, Dysdiadochokinesis, Shuffling gait, Gait ataxia, Ataxia	ORPHA:247234
Mirage Syndrome	Rocker bottom foot, Hyperkalemia, Radial club hand, Anemia, Gastroesophageal reflux, Hyponatremia...	OMIM:617053
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Peripheral axonal neuropathy, Facial diplegia, Failure to thrive, Decreased number...	ORPHA:254930
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Hepatic steatosis	ORPHA:79085
Lethal Congenital Contracture Syndrome 2	Akinesia	OMIM:607598
D-Bifunctional Protein Deficiency	Decreased nerve conduction velocity, Hammertoe, Split hand, Failure to thrive, Decreased muscle m...	OMIM:261515
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly, Pancreatitis	ORPHA:435651
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Failure to thrive, Akinesia, Small for gestational age	OMIM:619147
Lysinuric Protein Intolerance	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Cognitive impairment,...	ORPHA:470
Greig Cephalopolysyndactyly Syndrome	1-3 toe syndactyly, Y-shaped metatarsals, Postaxial hand polydactyly, 3-4 finger syndactyly, Y-sh...	OMIM:175700
Giant Axonal Neuropathy 1, Autosomal Recessive	Sensory axonal neuropathy, Motor axonal neuropathy, Facial palsy, Decreased number of peripheral ...	OMIM:256850
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenome...	ORPHA:79477
Cockayne Syndrome B	Optic atrophy, Decreased nerve conduction velocity, Severe failure to thrive, Abnormal auditory e...	OMIM:133540
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperch...	ORPHA:412
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology	OMIM:243000
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular carcinoma,...	ORPHA:2088
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Cockayne Syndrome Type 1	Optic atrophy, Postnatal growth retardation, Difficulty walking, Foot joint contracture, Absent b...	ORPHA:90321
Congenital Toxoplasmosis	Cardiomegaly, Hepatomegaly	ORPHA:858
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Progressive muscle weakness, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities...	OMIM:157640
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Hepatomegaly, Hepatic steatosis	OMIM:615381
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Hypertriglyceridemia, Jaundice, Hepatomegaly, Decreased CD4:CD8 rati...	OMIM:619573
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Decrease...	ORPHA:77293
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly	OMIM:619064
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cell...	ORPHA:167
Autosomal Spastic Paraplegia Type 58	Peripheral demyelination	ORPHA:397946
Bickerstaff Brainstem Encephalitis	Abnormal cranial nerve morphology, Bulbar palsy, Facial palsy, Abnormality of the autonomic nervo...	ORPHA:79138
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le...	OMIM:300280
Neuraminidase Deficiency	Hepatomegaly, Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Splenomegaly, Pro...	OMIM:256550
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Manganese Poisoning	Akinesia, Gait disturbance	ORPHA:306682
Neurodegeneration With Brain Iron Accumulation 5	Akinesia	OMIM:300894
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Rocker bottom foot, Short 5th finger, Pyloric stenosis, Congenital hip dislocation	OMIM:133705
Microtriplication 11Q24.1	Genu valgum, Clinodactyly of the 5th finger, Hyperlipidemia, Metatarsus adductus, Cleft palate, S...	ORPHA:289522
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, Hy...	ORPHA:79259
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Anemia, Hypokalemia, Clubbing, Colon cancer, Hematochez...	OMIM:174900
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Irritability, Abnormality of the gastrointestinal tract, Hyperlipidemia	ORPHA:2089
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Pyloric stenosis, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, Camptodac...	OMIM:614262
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Failure to thrive, Severe demyelination of the white matter, Peripheral demyelination	ORPHA:79282
Xp21 Deletion Syndrome	Hypertriglyceridemia, Confusion, Finger clinodactyly, Elevated circulating creatine kinase concen...	ORPHA:261476
Glycogen Storage Disease Iii	Hepatic fibrosis, Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Cockayne Syndrome A	Optic atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Failure ...	OMIM:216400
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Pyloric stenos...	ORPHA:381
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Hepatic steatosis, Elevated circulating creatine kinase conce...	ORPHA:435660
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	External ophthalmoplegia, Generalized muscle weakness, Ragged-red muscle fibers, Scapular winging...	OMIM:607459
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom...	ORPHA:324410
Seckel Syndrome 10	Hypertriglyceridemia, Slender long bone, Acute pancreatitis, Metaphyseal widening, Elevated hemog...	OMIM:617253
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, E...	OMIM:212140
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers	OMIM:614116
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Clinodactyly of the 5th finger, Facial palsy, Skeletal muscle atrophy, Abnormal muscle fiber morp...	ORPHA:3068
Attrv122I Amyloidosis	Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos...	ORPHA:85451
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy	OMIM:614702
Classic Progressive Supranuclear Palsy Syndrome	Akinesia, Gait imbalance, Falls	ORPHA:240071
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Bronchogenic Cyst	Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia, Abnormal peritoneum morpho...	ORPHA:2357
Mulibrey Nanism	Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Spinocerebellar Ataxia 25	Decreased number of peripheral myelinated nerve fibers	OMIM:608703
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Obesity, Delayed peripheral myelination	ORPHA:464282
Aceruloplasminemia	Limb ataxia, Akinesia, Chorea, Gait ataxia, Ataxia	ORPHA:48818
Prader-Willi Syndrome	Hypertriglyceridemia, Acromicria, Decreased HDL cholesterol concentration, Radial deviation of fi...	OMIM:176270
Cockayne Syndrome	Optic atrophy, Cerebral atrophy, Postnatal growth retardation, Decreased nerve conduction velocit...	ORPHA:191
Peroxisome Biogenesis Disorder 4B	Optic atrophy, Decreased nerve conduction velocity, Ataxia, Gait disturbance	OMIM:614863
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp...	OMIM:115197
Gaisböck Syndrome	Hypertriglyceridemia, Peptic ulcer, Increased red blood cell count, Elevated plasma cell count, I...	ORPHA:90041
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:619051
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia, Narrow palate, Hammertoe, Sandal gap, Hallux valgus, Shoulder dislocation, ...	ORPHA:536532
Molybdenum Cofactor Deficiency, Complementation Group B	Peripheral demyelination, Axonal loss	OMIM:252160
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Multifocal epileptiform discharges, Hypsarrhythmia, Decreased body weight, Delayed myelination, F...	OMIM:619475
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h...	ORPHA:567983
Double Outlet Left Ventricle	Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe...	ORPHA:3427
Molybdenum Cofactor Deficiency, Complementation Group A	Peripheral demyelination, Axonal loss	OMIM:252150
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Osteol...	ORPHA:280365
Tangier Disease	Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, T...	ORPHA:31150
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Pyloric stenosis, Clinodactyly of the 5th finger, Tapered finger, Hip dysplasia	OMIM:617219
Gaucher Disease, Perinatal Lethal	Akinesia, Neonatal death, Decreased body weight	OMIM:608013
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia, Anemia	OMIM:603278
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Protein-losing enteropathy, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hem...	OMIM:618183
Spastic Ataxia 5, Autosomal Recessive	Onion bulb formation	OMIM:614487
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Failure to thrive, Demyelinating peripheral neuropathy, Segmental peripheral demye...	ORPHA:255210
Cockayne Syndrome Type 3	Difficulty walking, Peripheral axonal neuropathy, Neurogenic bladder, Brain atrophy, Unsteady gai...	ORPHA:90324
Autosomal Recessive Spastic Paraplegia Type 35	Optic atrophy, Peripheral demyelination	ORPHA:171629
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Systemic Sclerosis	Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Osteolytic defects of the...	ORPHA:90291
Scheie Syndrome	Abnormal nerve conduction velocity	ORPHA:93474
Nephrotic Syndrome, Type 1	Gastroesophageal reflux, Hypoproteinemia, Hyperlipidemia, Pyloric stenosis, Hypoalbuminemia	OMIM:256300
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Decreased proportion of CD4-positive helper T cells	ORPHA:66628
Metachromatic Leukodystrophy	Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Muscle weakness	ORPHA:512
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Incr...	OMIM:300048
Postencephalitic Parkinsonism	Akinesia, Paresthesia	ORPHA:97349
H Syndrome	Hypertriglyceridemia, Lymphadenopathy, Camptodactyly, Hepatosplenomegaly, Hallux valgus, Histiocy...	ORPHA:168569
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Hypopl...	OMIM:185070
Hurler Syndrome	Abnormal nerve conduction velocity, Short stature, Camptodactyly of finger, Growth delay, Macrogl...	ORPHA:93473
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Fetal Akinesia Deformation Sequence	Akinesia	ORPHA:994
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Multiple Sulfatase Deficiency	Optic atrophy, Abnormality of peripheral nerve conduction, Short stature	ORPHA:585
Neutral Lipid Storage Myopathy	Generalized limb muscle atrophy, Neck muscle weakness, Gowers sign, Rimmed vacuoles, Progressive ...	ORPHA:98908
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating creatine kinase co...	OMIM:610717
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular septal defect...	OMIM:616897
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Abnormality of skeletal muscle fiber size, Generalized muscle weakness, Nemaline bodies, Joint co...	OMIM:620278
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, Elevated circulating...	OMIM:615980
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Hepatomegaly, Abnormal granulocyte morphology, Micronodular cirrhosis, Abno...	ORPHA:98907
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Demyelinating peripheral neuropathy, Basal lamina onion bulb formation	ORPHA:2821
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Acute pa...	ORPHA:79086
Kanzaki Disease	Cerebral atrophy, Peripheral axonal neuropathy, Axonal degeneration	OMIM:609242
Hereditary Late-Onset Parkinson Disease	Akinesia, Shuffling gait, Weight loss	ORPHA:411602
Timothy Syndrome	Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot	OMIM:601005
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Multiple Pterygium Syndrome, Lethal Type	Akinesia	OMIM:253290
Danon Disease	Lower limb amyotrophy, Myocardial necrosis, EMG: myopathic abnormalities, Limb muscle weakness, D...	OMIM:300257
Parkinson Disease 23, Autosomal Recessive Early-Onset	Akinesia	OMIM:616840
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia	OMIM:225790
Oculogastrointestinal Muscular Dystrophy	Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro...	ORPHA:1876
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect	OMIM:620609
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomegaly, Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria	ORPHA:42
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Flexion contracture ...	OMIM:256040
Hardikar Syndrome	Hematemesis, Bilateral cleft palate, Intrahepatic bile duct dilatation, Cholestasis, Intestinal m...	OMIM:301068
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at...	OMIM:620642
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Genu valgum, Osteolytic defects of the phalanges of the hand, Macrovesicula...	OMIM:619127
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology	OMIM:266500
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:615812
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, High, narrow palate, Gastroesophageal reflux, Slender long bone, Upper limb...	ORPHA:369837
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Nephrocalcinosis, Right atrial enlargement	OMIM:614473
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis	OMIM:179010
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati...	OMIM:231005
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Glomerulonephritis	ORPHA:99931
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, Cardiomegaly	OMIM:617713
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced myoglobinuria, Hepatomegaly, Dicarboxylic aciduria, Hypertrophic cardiomyopathy,...	OMIM:201475
Bardet-Biedl Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Aganglionic megacolon, Abnormality...	ORPHA:110
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Hsd10 Disease, Infantile Type	Cardiomegaly, Abnormal concentration of acylcarnitine in the urine, Hypertrophic cardiomyopathy	ORPHA:391428
Mucopolysaccharidosis Type 2	Optic atrophy, Decreased nerve conduction velocity, Flexion contracture of digit, Papilledema, Co...	ORPHA:580
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Proximal phalangeal periosteal thickening, Osteolytic defects of the phalang...	OMIM:161700
Microcephalic Primordial Dwarfism, Montreal Type	Congenital pyloric atresia	ORPHA:2617
Hereditary Sensory And Autonomic Neuropathy Type 5	Decreased number of small peripheral myelinated nerve fibers	ORPHA:64752
Mogs-Cdg	External genital hypoplasia, Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Card...	ORPHA:79330
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypercholesterolemia...	OMIM:151660
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr...	OMIM:306955
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Cardiomegaly, Ketonuria	OMIM:255120
Thyrotoxic Periodic Paralysis	Respiratory paralysis, Late-onset proximal muscle weakness, Episodic flaccid weakness, Rhabdomyol...	ORPHA:79102
Schimke Immuno-Osseous Dysplasia	Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Abnormal femoral head morphology,...	ORPHA:1830
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Polymyositis	Proximal muscle weakness, Abnormal muscle fiber morphology, Weight loss	ORPHA:732
Sickle Cell Disease	Hepatomegaly, Hematuria, Cholelithiasis, Splenomegaly, Cardiomegaly, Renal insufficiency	OMIM:603903
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Memory impairment, Depression, Emotional lability, Hyperlipidemia, Cognitive impairment, Hyperald...	ORPHA:189427
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiomyopathy, Nephr...	OMIM:130650
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:277700
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Testicul...	ORPHA:465508
Pearson Syndrome	Steatorrhea, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Hypophosphatemia, Dyspha...	ORPHA:699
Alstrom Syndrome	Polydactyly, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic...	OMIM:203800
Alagille Syndrome 1	Hypoplasia of the ulna, Hypertriglyceridemia, Cirrhosis, Hepatocellular carcinoma, Cholestasis, A...	OMIM:118450
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Cognitive impairment, Reticulocytosis, Increased blood urea nitrogen, Thrombocyto...	OMIM:235400
Wilson Disease	Decreased nerve conduction velocity, Limb muscle weakness	OMIM:277900
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Congenital Disorder Of Deglycosylation 1	Decreased sensory nerve conduction velocity, Facial hypotonia, Decreased body weight, Intrinsic h...	OMIM:615273
Reynolds Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastroesophageal reflux, Abnormal gastric mucosa morphology, D...	ORPHA:779
Pseudo-Torch Syndrome 3	Cardiomegaly, Acute kidney injury, Proteinuria	OMIM:618886
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Tracheoesophageal fistula, Pyloric sten...	ORPHA:379
East Syndrome	Peripheral axonal neuropathy, Peripheral hypomyelination	ORPHA:199343
Insensitivity To Pain, Congenital, With Anhidrosis	Decreased number of small peripheral myelinated nerve fibers, Abnormal autonomic nervous system p...	OMIM:256800
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Methanol Poisoning	Confusion, Hyperlipidemia	ORPHA:31825
19P13.12 Microdeletion Syndrome	Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly, Hyperlipidemia, Toe clinodactyly, ...	ORPHA:254346
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	CNS demyelination, Failure to thrive, Small for gestational age, Peripheral demyelination	OMIM:220111
Cirrhotic Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca...	ORPHA:57777
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Azoospermia, Pancreatic hypo...	OMIM:602782
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, Myoglobinuria, Polycystic...	ORPHA:228308
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Craniofaciofrontodigital Syndrome	Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus...	ORPHA:363705
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Increased urinary N-acetylglucosamine-rich oligosaccharide le...	OMIM:268800
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Ureteral duplication, Long-chain dicarboxylic aciduria, Polycystic...	OMIM:608836
Craniorachischisis	Anal atresia, Bifid sternum	ORPHA:63260
Glycogen Storage Disease Ib	Xanthelasma, Hepatomegaly, Pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyperlipidemia,...	OMIM:232220
Fucosidosis	Cardiomegaly, Mucopolysacchariduria, Hepatomegaly	ORPHA:349
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splen...	OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Acute pancreatitis, Splenomegaly, Hepatic steatosis	OMIM:608594
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Short clavicles, Osteolytic defects of the distal phalanges of the hand...	OMIM:248370
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Supranuclear Palsy, Progressive, 2	Akinesia, Gait imbalance, Falls	OMIM:609454
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Urinary incontinence, Cardiomyopathy	OMIM:105210
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Dpagt1-Cdg	Failure to thrive, Akinesia, Ataxia, Inability to walk	ORPHA:86309
Ulnar-Mammary Syndrome	Abnormal metacarpal morphology, Abnormal finger morphology, Ectopic anus, Postaxial hand polydact...	ORPHA:3138
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy	OMIM:619259
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short clavicles, Osteolytic defects of the distal phalanges of the hand, Hyperlipidemia, High pal...	OMIM:608612
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial...	ORPHA:96191
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Congenital Tracheal Stenosis	Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ...	ORPHA:141127
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Slender long bone, Thin ribs, Hypoplastic ilia, Short femur, Hypoplasia of ...	OMIM:264090
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Cryptorchidism, Hepatomegaly	OMIM:618143
Arthrogryposis Multiplex Congenita 5	Akinesia	OMIM:618947
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch...	ORPHA:308552
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis	OMIM:208000
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Esophageal atresia, Congenital pyloric atresia	OMIM:226730
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Hydronephrosis, Cardiomegaly, Dilated cardiomyopathy, Ventricular septal defect	OMIM:614921
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,...	OMIM:261740
Supranuclear Palsy, Progressive, 1	Akinesia, Gait imbalance, Falls	OMIM:601104
Neurodegeneration With Brain Iron Accumulation 1	Akinesia, Ataxia, Gait disturbance, Choreoathetosis	OMIM:234200
Bohring-Opitz Syndrome	Failure to thrive, Delayed peripheral myelination	OMIM:605039
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Arachnodactyly...	ORPHA:285
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Familial Multiple Lipomatosis	Hyperlipidemia, Bowing of the long bones, Functional intestinal obstruction	ORPHA:199276
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis	OMIM:307030
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,...	OMIM:245600
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Hyperlipidemia, Hyperuricemia	ORPHA:35909
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Decreased number of large peripheral myelinated nerve fibers	OMIM:223900
Atypical Werner Syndrome	Rocker bottom foot, Hypertriglyceridemia, Osteolytic defects of the phalanges of the hand, Neopla...	ORPHA:79474
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Pollakisuria, Right ventricular hypertrophy	ORPHA:268
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Ulnar-Mammary Syndrome	Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd metacarpal, Short...	OMIM:181450
Choreoacanthocytosis	Falls, Frontal cortical atrophy, Distal amyotrophy, Peripheral axonal neuropathy, Abnormal autono...	ORPHA:2388
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, 2-3 toe syndactyly, Confusion, Hypoplastic ilia, Short femur, Thin long bon...	ORPHA:3455
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia	ORPHA:86816
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Peripheral hypomyelination, Chronic axonal neuropathy	OMIM:612780
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Decreased plasm...	ORPHA:157
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricular noncompaction c...	OMIM:300967
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Failure to thrive, Decreased number of peripheral myelinated nerve fibers	OMIM:256810
African Trypanosomiasis	Impaired proprioception, Akinesia, Difficulty walking, Gait disturbance, Weight loss, Choreoathet...	ORPHA:3385
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic spleen	OMIM:601186
Glycogen Storage Disease Ic	Xanthelasma, Hepatomegaly, Chronic pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyperli...	OMIM:232240
Glycogen Storage Disease Ia	Xanthelasma, Hepatomegaly, Pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hyperlipidemia	OMIM:232200
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla...	ORPHA:3384
Fucosidosis	Hepatomegaly, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosacchariduria	OMIM:230000
Mucopolysaccharidosis Type 3	Abnormal aortic valve morphology, Hepatomegaly, Mucopolysacchariduria, Abnormal mitral valve morp...	ORPHA:581
Glycogen Storage Disease Ii	Cardiomegaly, Hepatomegaly, Urinary incontinence, Splenomegaly	OMIM:232300
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Hypercholesterolemia, Dysphagia, Recurrent pancreatitis	OMIM:606721
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Osteolytic defects of the distal phalanges of the hand, Hyperlipidemia, Acroosteolysi...	ORPHA:90154
Ogden Syndrome	Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,...	OMIM:300855
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Failure to thrive, Delayed peripheral myelination	ORPHA:364577
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Abnormality of the gastrointestinal tract, Hyperli...	ORPHA:439232
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Ureteral duplication, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ...	ORPHA:1677
Histiocytoid Cardiomyopathy	Hepatomegaly, Renal cyst, Cardiomegaly, Polycystic ovaries, Ventricular septal defect	ORPHA:137675
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteolytic defects of the distal phalanges of the hand, High palate, Hyperlipidemia, Acroosteolys...	ORPHA:90153
Coffin-Lowry Syndrome	Narrow palate, Rectal prolapse, Bifid sternum, Hyperextensibility of the finger joints, Narrow il...	OMIM:303600
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Mucopolysacchariduria, Splenomegaly, ...	OMIM:252500
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatomegaly, Congenital hydrocele, Parotitis, Hepatosplenomegaly, Splenomegaly, Epididymitis, Ca...	OMIM:620376
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Cardiomegaly, Patent foramen ovale, Cryptorchidism	OMIM:620371
Bohring-Opitz Syndrome	Annular pancreas, Cholelithiasis, Cardiomegaly, Urinary retention, Abnormal cardiac septum morpho...	ORPHA:97297
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Hyperlipidemia, Elevated circulating creatine...	ORPHA:565612
Williams Syndrome	Hypoplasia of penis, Pulmonic stenosis, Nephrocalcinosis, Multiple renal cysts, Mitral valve prol...	ORPHA:904
Viss Syndrome	Rocker bottom foot, Intestinal malrotation, Arachnodactyly, Malposition of the stomach, Bifid uvu...	OMIM:619472
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Fabry Disease	Abnormal circulating lipid concentration, Abnormal femur morphology, Anemia, Depression, Hyperlip...	ORPHA:324
Yunis-Varon Syndrome	Clitoral hypertrophy, Hypospadias, Ventricular septal defect, Cardiomyopathy, Renal artery stenos...	ORPHA:3472
Hereditary Sensory And Autonomic Neuropathy Type 4	Difficulty walking, Abnormality of the autonomic nervous system, Growth delay, Orthostatic hypote...	ORPHA:642
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly	OMIM:618278
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch...	ORPHA:365
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Liver Disease, Severe Congenital	Left atrial enlargement, Hepatomegaly, Hypospadias, Patent foramen ovale, Pancreatic hypoplasia, ...	OMIM:619991
Abetalipoproteinemia	Cardiomegaly, Hepatomegaly	ORPHA:14
Aicardi-Goutières Syndrome	Cardiomegaly, Hypertrophic cardiomyopathy, Micropenis, Hepatosplenomegaly	ORPHA:51
Junctional Epidermolysis Bullosa With Pyloric Atresia	Intestinal atresia, Congenital pyloric atresia	ORPHA:79403
Alström Syndrome	Hypertriglyceridemia, Short finger, Cirrhosis, Hepatomegaly, Abnormal liver physiology, Pancreati...	ORPHA:64
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Depression, Emotional lability, Hyperlipidemia, Hyponatremia, Brachydactyly, Gastrointestinal dys...	ORPHA:293987
Aromatase Deficiency	Hyperlipidemia, Genu valgum, Hepatic steatosis, Delayed epiphyseal ossification	ORPHA:91
Epidermolysis Bullosa Simplex With Pyloric Atresia	Elevated circulating creatine kinase concentration, Congenital pyloric atresia	ORPHA:158684
Friedreich Ataxia 2	Abnormality of peripheral nerve conduction, Ataxia	OMIM:601992
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Medullary nephrocalcinosis, Pericardial effusion, Hyperphosphaturia, Nep...	ORPHA:51608
Woodhouse-Sakati Syndrome	Hyperlipidemia, Mental deterioration	ORPHA:3464
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250
Woodhouse-Sakati Syndrome	Hyperlipidemia	OMIM:241080
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis	ORPHA:391665

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gars1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gars1.

No publications found that use IMPC mice or data for Gars1.

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MGI Allele	Allele Type	Produced
Gars1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Gars1^em1(IMPC)Tcp	Exon Deletion	Mice, Tissue
Gars1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Gars1 MGI:2449057

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Eye Morphology

Eye Morphology

Eye Morphology

X-ray

Histopathology

X-ray

X-ray

Histopathology

X-ray

X-ray

X-ray

X-ray

X-ray

Gross Pathology and Tissue Collection

Gross Pathology and Tissue Collection

Electrocardiogram (ECG)

Human diseases caused by Gars1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data