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Gene: Epg5 MGI:1918673

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Gene Summary

Name:
ectopic P-granules autophagy protein 5 homolog (C. elegans)
Synonyms:
5430411K18Rik

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
decreased prepulse inhibition Epg5em1(IMPC)H HOM Early adult 3.16×10-14
tremors Epg5em1(IMPC)H HOM Early adult 7.12×10-09
increased neutrophil cell number Epg5em1(IMPC)H HOM Early adult 6.49×10-20
increased circulating amylase level Epg5em1(IMPC)H HOM Early adult 9.81×10-06
increased circulating aspartate transaminase level Epg5em1(IMPC)H HOM Early adult 0.00
increased circulating iron level Epg5em1(IMPC)H HOM Early adult 5.20×10-07
increased circulating alkaline phosphatase level Epg5em1(IMPC)H HOM Early adult 5.72×10-27
abnormal gait Epg5em1(IMPC)H HOM Early adult 3.21×10-11
increased lymphocyte cell number Epg5em1(IMPC)H HOM Early adult 1.31×10-10
increased large unstained cell number Epg5em1(IMPC)H HOM Early adult 1.69×10-08
decreased circulating glucose level Epg5em1(IMPC)H HOM   Early adult 7.88×10-05
decreased circulating serum albumin level Epg5em1(IMPC)H HOM Early adult 1.11×10-08
increased red blood cell distribution width Epg5em1(IMPC)H HOM Early adult 6.18×10-37
short tibia Epg5em1(IMPC)H HOM Early adult 1.66×10-05
increased basophil cell number Epg5em1(IMPC)H HOM Early adult 1.33×10-06
decreased lymphocyte cell number Epg5em1(IMPC)H HOM Early adult 9.07×10-11
decreased startle reflex Epg5em1(IMPC)H HOM Early adult 1.08×10-05
increased monocyte cell number Epg5em1(IMPC)H HOM Early adult 1.37×10-24
increased leukocyte cell number Epg5em1(IMPC)H HOM Early adult 1.85×10-16
increased spleen weight Epg5em1(IMPC)H HOM Early adult 1.29×10-20
increased circulating alanine transaminase level Epg5em1(IMPC)H HOM Early adult 1.39×10-34

Download data as:  TSV  XLS

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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.

Phenotype associated images not available

Human diseases caused by Epg5 mutations

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

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

The table below shows human diseases associated to Epg5 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Vici Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Cerebral cortical atrophy, Shor... ORPHA:1493
Vici Syndrome
Hypopigmentation of hair, Albinism, Growth delay, Decreased proportion of CD4-positive helper T c... OMIM:242840

The table below shows human diseases predicted to be associated to Epg5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Glutathionuria
Tremor OMIM:231950
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus OMIM:611092
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, Enlarged mese... OMIM:209950
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Cirrhosis, Conjugated hyperbilirubinem... OMIM:616860
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Basal ganglia gliosis, Hypertonia, Tetraparesis, Lower limb muscle weakness, Rigidi... ORPHA:225154
Proximal Myopathy With Extrapyramidal Signs
Progressive extrapyramidal movement disorder, Chorea, Centrally nucleated skeletal muscle fibers,... ORPHA:401768
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Intellectual Developmental Disorder, X-Linked 72
Stereotypy OMIM:300271
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Spinal Muscular Atrophy, Jokela Type
Tremor, Difficulty walking, Pes planus, Pes cavus, Fasciculations, Elevated circulating creatine ... OMIM:615048
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Hemiballismus ORPHA:494526
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:168100
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Chorea, Paroxysmal dyskinesia OMIM:611031
Parkinson Disease 17
Tremor, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Rigidity OMIM:617018
Intellectual Developmental Disorder With Autism And Speech Delay
Stereotypy OMIM:606053
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypoa... ORPHA:507
Immunodeficiency 8
Lymphopenia, Hyperactivity OMIM:615401
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Autism
Stereotypy OMIM:209850
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Spastic Paraplegia Type 7
Scoliosis, Abnormal cerebral white matter morphology, Abnormal pyramidal sign, Lower limb hyperto... ORPHA:99013
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Reduced natural killer cell count, Th... OMIM:616050
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Hand mu... OMIM:607641
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypertonia, Jaundice, Hy... OMIM:267700
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:614561
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Apraxia, Gliosis, Abnormality of extrapyramidal... ORPHA:275872
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Dystonia 27
Postural tremor, Action tremor OMIM:616411
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Ataxia, Pes cavus, Hypoalbuminemia, Steppage gait OMIM:607250
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Parkinson Disease 22, Autosomal Dominant
Tremor, Resting tremor, Bradykinesia OMIM:616710
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Decreased motor nerve conduction velocity, Frequent falls, Incoordination, Hand muscle we... OMIM:302800
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Proximal amyotrophy, Degeneration of anterior horn cells, Decreased number of peripheral... OMIM:604484
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... OMIM:260300
Primary Dystonia, Dyt13 Type
Postural tremor, Action tremor, Torticollis, Stereotypy, Involuntary movements ORPHA:98807
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Ataxia, Distal lower limb muscle weakness, Pes cavus, Hypoalbuminemia, Step... ORPHA:94124
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Synda... OMIM:615631
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Abnormal cerebral white matter morphology, Kyphosis,... OMIM:618138
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor, Abnormal foot morphology OMIM:614369
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Marinesco-Sjogren Syndrome
Scoliosis, Gait ataxia, Limb ataxia, Kyphosis, Flexion contracture, Centrally nucleated skeletal ... OMIM:248800
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Hepatomegaly, Hypoalbuminemia, Pancreatitis, Broad-based gait OMIM:618805
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis, Peripheral axonal neuropathy, Distal sensory impairment, Optic atrophy, Foot... OMIM:617087
Progressive Non-Fluent Aphasia
Astrocytosis, Apraxia, Temporal cortical atrophy, Abnormality of extrapyramidal motor function, S... ORPHA:100070
Myopathy, Scapulohumeroperoneal
Scoliosis, Hyperlordosis, Scapular winging, Wrist drop, Increased connective tissue, Centrally nu... OMIM:616852
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bone marrow hypocellularity OMIM:616871
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Exocrine pancreatic insufficiency, Difficulty walking, Hyp... ORPHA:1667
Mental Retardation, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia, Stereotypy OMIM:617270
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, EMG: myopathic abnormalities, Fatty replacement of skeletal muscle, Abnormality of... ORPHA:52430
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... ORPHA:86841
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign OMIM:300660
Nephrotic Syndrome, Type 14
Lymphopenia, Hypoglycemia, Ataxia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Upp... ORPHA:101110
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Abnormal anterior horn cell morphology, Arthrogryposis multiplex congenita, Short neck... OMIM:611890
Immunodeficiency 40
Lymphopenia OMIM:616433
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Tremor, Gait ataxia, Truncal ataxia, Dystonia, Limb ataxia, Oculomotor apra... OMIM:208920
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... DECIPHER:29
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Elevated hepcidin level, Anisocytosis, Poikilocytosis OMIM:206200
Amyotrophic Lateral Sclerosis 4, Juvenile
Diffuse axonal swelling, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, D... OMIM:602433
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Eosinophilic Gastroenteritis
Leukocytosis, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Anemia, Asc... ORPHA:2070
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Microcytic anemia, Incre... ORPHA:398063
Juvenile Primary Lateral Sclerosis
Spastic tetraparesis, Abnormal pyramidal sign, Abnormal upper motor neuron morphology, Spastic ga... ORPHA:247604
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Salih Myopathy
Scoliosis, Mitochondrial depletion, Centrally nucleated skeletal muscle fibers, Flexion contractu... OMIM:611705
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Postural tremor, Dystonia, Head tremor, Abnormal pyramidal sign, Oculomotor... ORPHA:64753
Aicardi-Goutieres Syndrome 2
Spastic paraplegia, Lymphocytosis, Dystonia OMIM:610181
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Increased connective tissue, Muscular dystrophy, ... OMIM:608423
Autosomal Spastic Paraplegia Type 72
Postural tremor, Spastic gait, Rigidity ORPHA:401849
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Clumsiness, Global brain atrophy, Spastic hemiparesis, Diffuse spongiform leukoence... ORPHA:282166
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Central Core Disease Of Muscle
Scoliosis, Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Typ... OMIM:117000
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Dysmetria OMIM:616127
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Apolipoprotein A-I Deficiency
Hemiplegia/hemiparesis, Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormalit... ORPHA:425
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatic steatosis, Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly, ... OMIM:619013
Chorea, Benign Familial
Chorea OMIM:215450
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Fibular Hemimelia
Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of fibula morphology,... ORPHA:93323
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis, Jaundice, Hypoalbuminemia... OMIM:617156
Smith-Magenis syndrome
Stereotypy DECIPHER:8
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Scoliosis, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type... ORPHA:86812
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Gait disturbance, Ataxia, Splenomegaly ORPHA:2274
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Cholestasis, Thrombocytopenia, Hepatomegaly, Hypoalbuminemia, Anemia, Ascites, Tal... OMIM:608104
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scoliosis, Hyperlordosis, Spinal muscular atrophy, Abnormal lower motor neuron morphology, Scapul... OMIM:611067
Nemaline Myopathy 2
Scoliosis, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Skeletal muscle atro... OMIM:256030
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea OMIM:616939
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:600116
Myopathy, Centronuclear, 2
Scoliosis, EMG: myopathic abnormalities, Hyperlordosis, Scapular winging, Kyphosis, Centrally nuc... OMIM:255200
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Parkinson Disease 19A, Juvenile-Onset
Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:615528
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Pedal edema, Thrombocytopenia, Acute my... ORPHA:86839
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Diaphragmatic paralysis, Spinal muscular atrophy, Diaphragmatic eventrat... OMIM:604320
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis, Short finger, Tapered finger, Short toe, Brachydactyly OMIM:610680
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Myopathy, Centronuclear, 1
Hyperlordosis, EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Centrally nucleated ske... OMIM:160150
Charcot-Marie-Tooth Disease, Type 4C
Scoliosis, Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonge... OMIM:601596
Minicore Myopathy With External Ophthalmoplegia
Scoliosis, Type 1 and type 2 muscle fiber minicore regions, Increased connective tissue, Muscular... OMIM:255320
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Myopathy, Congenital, With Fiber-Type Disproportion
Scoliosis, Centrally nucleated skeletal muscle fibers, Lumbar hyperlordosis, Type 1 fibers relati... OMIM:255310
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hepatom... OMIM:613313
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Tremor, Ataxia OMIM:617917
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Neutropenia, Fetal ascites, Cholestasis, Thrombocyt... ORPHA:292
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Abnormal lower motor neuron mo... ORPHA:95434
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Clumsiness, Peroneal muscle atrophy, Increased muscle lipid content... ORPHA:609
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Scoliosis, Hand muscle weakness, Poor fine motor coordination, Triceps weakness, Distal lower lim... ORPHA:99947
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Cerebral atrophy, Neuro... OMIM:615157
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Myopathy, Spheroid Body
Absent Achilles reflex, Tremor, Waddling gait, Elevated circulating creatine kinase concentration... OMIM:182920
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Centrally nucleated skeletal muscle fibe... OMIM:618484
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Scoliosis, Positive Romberg sign, Gait ataxia, Flexion contracture of finger, Pigmentary retinopa... ORPHA:88628
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Chorea, Peripheral hypomyelination, Cerebral atrophy, ... OMIM:604168
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Amyotrophic Lateral Sclerosis 2, Juvenile
Upper limb spasticity, Spastic tetraparesis, Abnormal lower motor neuron morphology, Amyotrophic ... OMIM:205100
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Abnormal muscle fiber morphology, Arthrogryposis multiple... ORPHA:1145
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Distal amyotrophy, Axonal degeneration/regeneration, I... OMIM:614436
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Hepatic... OMIM:251880
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Ataxia, ... OMIM:500002
Merrf
Ragged-red muscle fibers, Ataxia, Multiple lipomas, Short stature, Myopathy, Optic atrophy ORPHA:551
Aceruloplasminemia
Increased circulating ferritin concentration, Cogwheel rigidity, Abnormality of extrapyramidal mo... OMIM:604290
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Babinski sign, Spasticity OMIM:615768
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Pes cavus, Dysmetria, Elevated circulating creatine kinase concentra... OMIM:618387
Spastic Paraplegia 18, Autosomal Recessive
Spastic paraplegia, Scoliosis, Upper limb spasticity, Hypoplasia of the corpus callosum, Kyphosis... OMIM:611225
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Gliosis, Paraparesis, Cerebral atrophy, Tetraparesis, Abnormal lower motor neuron morpho... OMIM:105550
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Abnormality of extrapyramidal motor function, Cerebral atrophy, Abnormal p... ORPHA:204
Autosomal Recessive Spastic Paraplegia Type 67
Limb tremor, Lower limb spasticity, Spastic gait, Babinski sign, Progressive spastic paraplegia ORPHA:401820
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, Spasticity OMIM:607317
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Scoliosis, EMG: myopathic abnormalities, Overweight, Centrally nucleated skeletal muscle fibers, ... ORPHA:486815
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Flared iliac wing, Enlarged kidney, Macrovesicular hepatic steatosis, Neutrope... OMIM:617303
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Severe X-Linked Mitochondrial Encephalomyopathy
Increased connective tissue, Sensory axonal neuropathy, Skeletal muscle atrophy, Involuntary move... ORPHA:238329
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... OMIM:603552
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Torticollis, Dys... ORPHA:276193
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Intention tremor, Frequent falls, Spastic dysarthria, ... ORPHA:314978
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis OMIM:159900
Muscular Dystrophy, Congenital, Merosin-Positive
Scoliosis, Congenital muscular dystrophy, Flexion contracture, Shoulder girdle muscle weakness, F... OMIM:609456
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Broad thumb, Lymphopenia, Neutropenia, Hypoplasia of the thymu... OMIM:612541
N-Acetylaspartate Deficiency
Truncal ataxia, Stereotypy OMIM:614063
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Poor fine motor coordination, Abnormal pyramidal sign, Ataxia, B... ORPHA:98762
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... ORPHA:540
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Parkinsonism ORPHA:210571
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Tremor, Cirrhosis, Rigidity, Spastic paraparesis, Abnormal... OMIM:613280
Spinocerebellar Ataxia 35
Incoordination, Ataxia, Torticollis, Dysmetria, Intention tremor, Babinski sign OMIM:613908
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Distal lower limb muscle weakness, Elevated circulat... ORPHA:276435
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Sp... OMIM:270500
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Overweight, Centrally nucleated ske... OMIM:619178
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Hyperlordosis, Hand muscle weakness... ORPHA:437572
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Babinski sign, Dysmetria OMIM:610245
Spinal Muscular Atrophy, Infantile, James Type
Scoliosis, Lower limb muscle weakness, Type 1 muscle fiber predominance, Lumbar hyperlordosis, Di... OMIM:619042
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Recurrent hypo... ORPHA:79299
Lethal Congenital Contracture Syndrome 7
Arthrogryposis multiplex congenita, Hypoplasia of the corpus callosum, Cerebral atrophy, Paralysi... OMIM:616286
Immunodeficiency 19
Lymphopenia OMIM:615617
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Lower limb spasticity, Dysmetria, Intention tremor OMIM:616948
Mitochondrial Dna Depletion Syndrome 18
Scoliosis, Microcytic anemia, Hand muscle atrophy, Distal amyotrophy, Failure to thrive, Clonus, ... OMIM:618811
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Parkinsonism... OMIM:128230
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Genu valgum, Cirrhosis, Abnormality of iron homeostasis, Decreased... ORPHA:231226
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... OMIM:615897
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Dysdiadochokinesis, EMG: myopathic abnormalities, Tremor, Increased muscle glycogen content, Incr... ORPHA:502423
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Clubbing of fingers, Hypoproteinemia, Thrombocytosis, Hepatomegaly, Hypoa... OMIM:226300
Primary Lateral Sclerosis, Juvenile
Spastic tetraparesis, Spasticity of pharyngeal muscles, Abnormal upper motor neuron morphology, S... OMIM:606353
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Ataxia, Spasticity OMIM:615889
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Abnormal upper motor neuron morphology, Spastic gait, Babinski sign, Spasti... OMIM:611637
Dystonia 24
Head tremor, Torticollis, Blepharospasm OMIM:615034
X-Linked Sideroblastic Anemia
Glucose intolerance, Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Pigmentary retinopathy, Decreased activity of mitochon... OMIM:252011
Boucher-Neuhauser Syndrome
Gait ataxia, Spinocerebellar atrophy, Spasticity, Ataxia, Retinal dystrophy, Abnormal upper motor... OMIM:215470
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Childhood-Onset Nemaline Myopathy
Slender build, EMG: myopathic abnormalities, Scoliosis, Arthrogryposis multiplex congenita, Clums... ORPHA:171439
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Tremor, Fatiguable weakness of proximal limb muscles, Elevated circulating cre... ORPHA:90117
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Cirrhosis, Lymphopenia, Neutropenia, Anemia, Increa... OMIM:604250
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hemipare... ORPHA:444463
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Centrally nucleated skeletal muscle fibers, Scapu... OMIM:608358
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Hepatomegaly, Anemia, Splenomegaly, De... OMIM:615234
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Leukope... ORPHA:2298
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis, Cerebral atrophy, Degeneration of anterior horn cells OMIM:600333
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Lymphopenia, Pedal edema, Hypoalbuminemia,... ORPHA:90362
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Increased connective tissue, Muscular dystrophy, Centrally nuclea... OMIM:613530
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypertonia, Prolonged neonatal jaundice, Neonatal hyperbilirubin... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypertonia, Prolonged neonatal jaundice, Neonatal hyperbilirubin... ORPHA:529799
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Gliosis, Hypoplasia of the corpus callosum, Axonal loss, Cerebral atrophy, Abnormal uppe... OMIM:221770
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... OMIM:601846
Developmental And Epileptic Encephalopathy 58
Spastic diplegia, Stereotypy OMIM:617830
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Myoclonus ORPHA:363710
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Babinski sign, Clonus OMIM:600363
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Centrally nucleated skeletal muscle fibers, Abnormal periventricular white matter morph... OMIM:618992
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Dysmetria, Intention tremor OMIM:616053
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Ataxia OMIM:618709
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Hand muscle weakness, Scapular winging, Paresthesia, Parkinsonism with favorab... ORPHA:254886
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Myoclonus, Rigidity ORPHA:98763
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Azoospermia, Head tremor, Torticollis, Abnormal motor neuron ... OMIM:613724
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Muscle fiber hypertrop... ORPHA:178464
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:614373
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hypertriglyceridemia, Hepatomegaly, Splenomegaly,... OMIM:607616
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, D... OMIM:602099
Leukodystrophy, Hypomyelinating, 9
Abnormality of extrapyramidal motor function, Ataxia, Dysmetria, Intention tremor, Spasticity OMIM:616140
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Intention tremor, Babinski sign, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:606482
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Myoclonus ORPHA:86814
Myopathy, Myofibrillar, 8
Scoliosis, Scapular winging, Centrally nucleated skeletal muscle fibers, Joint contracture of the... OMIM:617258
Myopathy, Congenital Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, T... OMIM:618823
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Spastic diplegia, Ataxia, Failure to thrive in infancy... OMIM:619065
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of ina... OMIM:237800
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... OMIM:618655
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyki... ORPHA:314632
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Increased connective tissue, Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle ... OMIM:601954
Myopathy, Mitochondrial, And Ataxia
Dysdiadochokinesis, Scoliosis, Tremor, Truncal ataxia, Pigmentary retinopathy, Thick hair, Limb a... OMIM:617675
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Spinal rigidity, Frequent falls, Short n... OMIM:300718
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Spastic paraplegia, Scoliosis, Decreased motor nerve conduction velocity, Decreased sensory nerve... OMIM:619026
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Myopathy With Extrapyramidal Signs
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... OMIM:615673
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Difficulty walking, Neutropenia, Hepatomegaly, Pes cavus, Elevated circulating... OMIM:251900
Hsd10 Mitochondrial Disease
Retinal degeneration, Cerebral cortical atrophy, Spastic tetraplegia, Abnormal mitochondrial morp... OMIM:300438
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Lymphangiectasis, Hypoa... OMIM:602579
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Hepatomegaly, Hypertriglyceridem... OMIM:615924
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Bradykinesia, Action tremor, Parkinsonism, Babinski sign OMIM:300423
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Autosomal Recessive Centronuclear Myopathy
Hyperlordosis, Scapular winging, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber ... ORPHA:169186
Behr Syndrome
Tremor, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Machado-Joseph Disease Type 3
Neurogenic bladder, Clumsiness, Spinocerebellar tract degeneration, Abnormality of extrapyramidal... ORPHA:276244
Epilepsy, Progressive Myoclonic, 6
Tremor, Difficulty walking, Ataxia, Myoclonus, Elevated circulating creatine kinase concentration OMIM:614018
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Positive Romberg sign, Gait ataxia, Limb ataxia, Bradykinesia, Sens... OMIM:258450
Aceruloplasminemia
Increased circulating ferritin concentration, Dystonia, Decreased circulating copper concentratio... ORPHA:48818
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Ankle clonus, Bradykinesia, Progressive inability to walk, Parkinsonism, Babins... ORPHA:521406
Abetalipoproteinemia
Reticulocytosis, Hypoalbuminemia, Anemia, Upper motor neuron dysfunction, Abnormal circulating ap... ORPHA:14
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Blepharospasm, Torticollis OMIM:224500
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Scapular winging, Temporal cortical atrophy, Frontal cortical atr... OMIM:167320
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lower limb spa... ORPHA:251282
Aicardi-Goutieres Syndrome 6
Tremor, Dystonia, Hemolytic anemia, Loss of ability to walk, Rigidity OMIM:615010
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Leukocytosis, Hypoalbuminemia, Anemia, Liver abscess ORPHA:67
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Action tremor ORPHA:464440
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Hypoplasia of the corpus callosum, Ataxia, Abnormal upper motor neuron morpholog... OMIM:607694
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Cerebral cortical atrophy, Myoclonus, Stereotypy, Babinski sign, Rigidity, Neuronal... OMIM:600795
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate pr... OMIM:613673
Myopathy, Myosin Storage, Autosomal Recessive
Scoliosis, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperon... OMIM:255160
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:605909
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Dystonia, Bradykinesia, Parkinsonism, Elevated circulating creatine ... OMIM:612953
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Stereotypy, Spasticity OMIM:617393
Avian Influenza
Lymphopenia, Thrombocytopenia, Hepatitis, Elevated circulating C-reactive protein concentration, ... ORPHA:454836
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytopenia, Hypertriglyceri... OMIM:613101
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Dysmetria, Intention tremor ORPHA:423275
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Scoliosis, Tremor, Clumsiness, Eyelid myoclonus, Lower limb muscle weakness, Abnormal lower motor... ORPHA:2590
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Head tremor, Action tremor, Progressive cerebellar ataxia, Parkinsonism, Dysm... OMIM:604326
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Pedal edema, Neonatal hypoproteinemia OMIM:152800
Immunodeficiency 43
Radial bowing, Hypoproteinemia, Hypoalbuminemia, Hypoplasia of the ulna OMIM:241600
Cockayne Syndrome Type 3
Enamel hypoplasia, Astrocytosis, Neurogenic bladder, Scoliosis, Cerebral white matter atrophy, Pr... ORPHA:90324
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Hemiparesis, Cortical dysplasia, Focal cortical dysplasia type II, Hemimegalencepha... OMIM:607341
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Camptodactyly of finger, Acute rhabdomyolysis, Paresthesia, Intention tremor, Abnormal... ORPHA:48431
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Abnormality of extrapyramidal motor function, Abnormal cerebral white matter morpho... ORPHA:275864
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia OMIM:200900
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Scoliosis, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Spinal rigidity OMIM:617066
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Tremor, Lethargy, Hepatic steatosis, Hepatocellular carcin... ORPHA:247585
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... OMIM:616437
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Spinocerebellar Ataxia Type 28
Kinetic tremor, Gait ataxia, Head tremor, Limb ataxia, Parkinsonism, Babinski sign, Rigidity, Spa... ORPHA:101109
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Dysmetria, Spasticity OMIM:213200
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Ragged-red muscle fibers, Lower limb muscle weakness, Sensory axona... OMIM:616924
Cerebrotendinous Xanthomatosis
Gliosis, Global brain atrophy, Palatal myoclonus, Abnormality of extrapyramidal motor function, T... ORPHA:909
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Bowing of the long bones, Splenomegaly, Anemia, Abnormality of f... ORPHA:1802
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Stereotypy OMIM:619150
Fraxe Intellectual Disability
Clumsiness, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Torticollis, Upper limb postural tremor, Myoclonus, Hand tremor, Vocal tremor ORPHA:420485
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Centrally nucleated skeletal muscle fibers, Congenital contracture, Small fo... OMIM:615368
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Hypermanganesemia With Dystonia 2
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Spasticity OMIM:617013
Glutathione Synthetase Deficiency
Hemolytic anemia, Spastic tetraparesis, Neutropenia, Ataxia, Intention tremor OMIM:266130
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Scoliosis, Axonal degeneration, Foot dorsiflexor weakness, Distal sensory impairment OMIM:616155
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Fibronectin Glomerulopathy
Pedal edema, Hypoalbuminemia ORPHA:84090
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Decreased serum iron, Anemia, Decreased mean corpuscular volume, Po... OMIM:616959
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Babinski sign... ORPHA:363654
Galloway-Mowat Syndrome 6
Clinodactyly of the 5th finger, Hypoalbuminemia OMIM:618347
Adrenomyeloneuropathy
Spastic gait, Distal sensory impairment, Axonal degeneration, Spasticity, Atrophy of the spinal c... ORPHA:139399
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weak... OMIM:300580
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Scoliosis, Type 1 muscle fiber atrophy, Abnormal cerebral white matter morphology, Type 2 muscle ... OMIM:617519
Spastic Paralysis, Infantile-Onset Ascending
Spastic paraplegia, Scoliosis, Abnormal lower motor neuron morphology, Achilles tendon contractur... OMIM:607225
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Hypoplasia of the corpus callosum, Kyphosis, Cerebral atrophy, Ataxia, Retinal dystrop... OMIM:616756
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Gait d... ORPHA:2585
Immunodeficiency 60
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Ankle clonus, Ataxia, Pancytopenia, Thrombocytopenia,... OMIM:159550
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Choreoathetosis, Myoclonus OMIM:261630
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Talipes equinovarus, F... OMIM:616719
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Speech apraxia, Bradykinesia, Progressive extrapyramidal ... ORPHA:454887
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Scoliosis, Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of... OMIM:613204
Encephalopathy, Recurrent, Of Childhood
Incoordination, Truncal ataxia, Chorea, Babinski sign, Intention tremor, Athetosis, Choreoathetosis OMIM:130950
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Short neck, Increased ... ORPHA:75840
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Alpha-B Crystallin-Related Late-Onset Myopathy
Limb-girdle muscle weakness, EMG: myopathic abnormalities, Muscle fiber inclusion bodies, Autopha... ORPHA:399058
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Short stature, Skeletal muscle atrophy, Axonal degeneration, Brac... OMIM:162100
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Patellar overgrowth, Elevated circulating C-reactive protein conce... OMIM:607115
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Spasticity, Ataxia, Abnormal auditory evoked potentials, Myopathy, Optic atrophy, Increased varia... OMIM:125250
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebellar atrophy, Decreased activity of mitochondrial complex III, Hypoplasia of the co... ORPHA:477774
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Hypoglycemia, Unsteady gait, Myoclonus, Anemia OMIM:610090
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Obesity, Hyperphagia, And Developmental Delay
Stereotypy OMIM:613886
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis, Scoliosis, Macroglossia, Hyperlordosis, Pachygyria, Increased connective tissue, Co... ORPHA:258
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly OMIM:611762
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia, Ataxia OMIM:616949
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Baker-Gordon Syndrome
Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, Choreoathetosis OMIM:618218
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Fatty re... OMIM:618848
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Megalencephaly, Facial hypotonia, Astrocytosis OMIM:611087
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Hyperlordosis, Multiple joint contractures, Myopathy, Limb-girdle muscle weakness,... ORPHA:352470
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Lethargy, Chorea, Neutropenia, Thrombocytopenia, Hemiplegia/hemiparesis, Hepatomegaly, ... ORPHA:289916
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Hyperprolinemia, Type I
Stereotypy, Ataxia OMIM:239500
Purine Nucleoside Phosphorylase Deficiency
Abnormal central motor function, Spastic paraparesis, Autoimmune thrombocytopenia, Autoimmune hem... ORPHA:760
Benign Samaritan Congenital Myopathy
Fasciculations, Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle ... ORPHA:324581
Multiminicore Myopathy
Scoliosis, Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscu... ORPHA:598
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Myoclonus OMIM:608105
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Micrognathia, Hypoglycemia, Prolonged neonatal jaun... ORPHA:446
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor ORPHA:210128
Combined Oxidative Phosphorylation Deficiency 6
Involuntary movements, Increased connective tissue, Abnormality of the basal ganglia, Skeletal mu... OMIM:300816
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Scoliosis, Internally nucleated skeletal muscle fi... ORPHA:98905
Bacterial Toxic-Shock Syndrome
Peritonitis, Hypocalcemia, Elevated circulating creatinine concentration, Increased circulating m... ORPHA:36234
Candidiasis, Familial, 2
Decreased serum iron, Hypereosinophilia, Lymphadenopathy OMIM:212050
Slc35A2-Cdg
Inability to walk, Camptodactyly of finger, Abnormality of long bone morphology, Hip subluxation,... ORPHA:356961
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Scoliosis, Tremor, Abnormality of the mitochondrion, Cerebellar atrophy, Diffuse cerebral atrophy... ORPHA:330050
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Purine Nucleoside Phosphorylase Deficiency
Tremor, Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thromboc... OMIM:613179
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Scoliosis, Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnorma... OMIM:618654
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Ataxia, Hemiplegia/hemiparesis, Skeletal muscle atrophy, Pro... ORPHA:480
Glut1 Deficiency Syndrome 2
Tremor, Dystonia, Reticulocytosis, Ataxia, Choreoathetosis OMIM:612126
Myopathy, Distal, 5
Facial palsy, Distal amyotrophy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Polyglucosan Body Neuropathy, Adult Form
Spastic paraplegia, Neurogenic bladder, Paresthesia, Orthostatic hypotension, Abnormal cerebral w... OMIM:263570
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scoliosis, EMG: myopathic abnormalities, Macroglossia, Scapular winging, Abnormal macrophage morp... ORPHA:353
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Macroglossia, Scoliosis, Pachygyria... OMIM:606612
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia, Clinodactyly of the 5th finger ORPHA:1116
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal lower limb ... OMIM:605820
Acquired Partial Lipodystrophy
Lymphocytosis, Hepatic steatosis, Insulin resistance ORPHA:79087
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements ORPHA:397933
Congenital Lethal Erythroderma