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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
increased leukocyte cell number Epg5em1(IMPC)H HOM Early adult 1.45×10-16
increased basophil cell number Epg5em1(IMPC)H HOM Early adult 1.24×10-06
increased red blood cell distribution width Epg5em1(IMPC)H HOM Early adult 3.07×10-37
increased large unstained cell number Epg5em1(IMPC)H HOM Early adult 1.39×10-08
increased circulating alkaline phosphatase level Epg5em1(IMPC)H HOM Early adult 8.36×10-27
short tibia Epg5em1(IMPC)H HOM Early adult 2.92×10-05
increased neutrophil cell number Epg5em1(IMPC)H HOM Early adult 2.89×10-20
abnormal gait Epg5em1(IMPC)H HOM Early adult 2.52×10-11
increased lymphocyte cell number Epg5em1(IMPC)H HOM Early adult 1.15×10-10
decreased circulating serum albumin level Epg5em1(IMPC)H HOM Early adult 1.07×10-08
decreased circulating glucose level Epg5em1(IMPC)H HOM   Early adult 7.61×10-05
increased monocyte cell number Epg5em1(IMPC)H HOM Early adult 1.04×10-24
increased circulating alanine transaminase level Epg5em1(IMPC)H HOM Early adult 1.21×10-34
decreased lymphocyte cell number Epg5em1(IMPC)H HOM Early adult 7.21×10-11
decreased prepulse inhibition Epg5em1(IMPC)H HOM Early adult 2.49×10-14
increased circulating aspartate transaminase level Epg5em1(IMPC)H HOM Early adult 0.00
increased circulating iron level Epg5em1(IMPC)H HOM Early adult 4.94×10-07
decreased startle reflex Epg5em1(IMPC)H HOM Early adult 9.71×10-06
increased circulating amylase level Epg5em1(IMPC)H HOM Early adult 9.80×10-06
tremors Epg5em1(IMPC)H HOM Early adult 5.86×10-09
increased spleen weight Epg5em1(IMPC)H HOM Early adult 4.19×10-16

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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, Cerebral cortical atrophy, Short stature, Abnormal macular m... ORPHA:1493
Vici Syndrome
Failure to thrive, Ocular albinism, Left ventricular hypertrophy, Hypopigmentation of hair, Albin... 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, Action tremor, Hand tremor OMIM:190300
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Glutathionuria
Tremor OMIM:231950
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor OMIM:619491
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
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
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Dysplasia Of Head Of Femur, Meyer Type
Multicentric femoral head ossification, Flattened femoral head, Enlarged tonsils, Leukocytosis, C... ORPHA:168621
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Babinski sign, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity ORPHA:401840
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Cerebellar Ataxia And Albinism
Ataxia, Head tremor OMIM:258300
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hy... OMIM:209950
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... OMIM:271150
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:168100
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Typ... OMIM:616860
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Episodic Ataxia, Type 8
Intention tremor, Ataxia, Slurred speech, Episodic ataxia OMIM:616055
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy... OMIM:614561
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia OMIM:615945
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Elevated circulating C-... OMIM:308240
Familial Infantile Bilateral Striatal Necrosis
Failure to thrive, Ataxia, Hypertonia, Atrophy/Degeneration involving the caudate nucleus, Myoclo... ORPHA:225154
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Pes cavus, Elevated circulating creatine kinase concentration, Hammertoe... OMIM:615048
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:619868
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Tremor, Hemiballismus, Chorea ORPHA:494526
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:619398
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus OMIM:616921
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Increased variability in mu... ORPHA:401768
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemiplegia, Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Hemophagocytosis,... OMIM:267700
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Abnorma... OMIM:607641
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Hypoalb... ORPHA:507
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Autism, Susceptibility To, X-Linked 3
Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Motor stereotypy OMIM:300425
Autism
Motor stereotypy OMIM:209850
Autism, Susceptibility To, 8
Motor stereotypy OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy OMIM:608636
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Pes cavus, Hypoalbuminemia, Hypercholesterolemia, Steppage gait OMIM:607250
Parkinson Disease 17
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener... ORPHA:99657
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
Glut1 Deficiency Syndrome 2
Ataxia, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reduced haptoglobin level, Retic... OMIM:612126
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory im... OMIM:604484
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Syndactyly, Po... OMIM:615631
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Elevated circulating C-r... ORPHA:158061
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Loss of ambulation, Limb ataxia, Pes cavus, Elevated circulating creatine kinase concentr... OMIM:208920
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Pes cavus, Spastic dysarthria, Hypoalbuminemia, Hypercholesterolemia, Distal lower limb m... ORPHA:94124
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:600116
Parkinson Disease 22, Autosomal Dominant
Tremor, Bradykinesia, Resting tremor OMIM:616710
Spastic Paraplegia Type 7
Cerebral cortical atrophy, Impaired vibration sensation in the lower limbs, Babinski sign, Abnorm... ORPHA:99013
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... OMIM:205950
Progressive Myoclonic Epilepsy Type 1
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus ORPHA:308
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Dystonia 24
Torticollis, Oromandibular dystonia, Blepharospasm, Head tremor OMIM:615034
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Abnormal foot morphology, Mildly elevated creatine kinase OMIM:614369
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis, Peripheral axonal neuropathy, Foot dorsiflexor weakness, Distal sensory impa... OMIM:617087
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Hemophagocytosis, Elevated circulating C-reactive protein concentrati... OMIM:619644
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia OMIM:616871
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru... OMIM:613673
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Gliosis, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function... ORPHA:275872
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia ORPHA:2589
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Pancreatitis, Hepatomegaly, Microcytic anemia, Hypoalbuminemia, Hepatic steatosis OMIM:618805
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... OMIM:254110
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Charcot-Marie-Tooth Disease Type 2B1
Axonal degeneration, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Hand muscl... ORPHA:98856
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Metaphyseal dysplasia, Hepatomegaly, Lymphocytosis, Hyperbilir... ORPHA:1667
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemiplegia, Hypertonia, Ataxia, Increased circulating ferritin concentration, Hepatomegaly, Hemop... OMIM:603553
Aicardi-Goutieres Syndrome 2
Spastic paraplegia, Dystonia, Lymphocytosis OMIM:610181
Dystonia 23
Torticollis, Axial dystonia, Myoclonus, Head tremor, Writer's cramp, Limb dystonia OMIM:614860
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... ORPHA:86841
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Immunodeficiency 8
Lymphopenia OMIM:615401
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Immunodeficiency 40
Lymphopenia OMIM:616433
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Kyphosis, Cerebral atrophy, Paucity of anterior horn motor neurons, Short neck, ... OMIM:611890
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign OMIM:300660
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Abnormal motor neuron mo... DECIPHER:29
Myopathy, Centronuclear, 1
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... OMIM:160150
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Postural tremor ORPHA:210571
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Juvenile Primary Lateral Sclerosis
Abnormal pyramidal sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spasticity, ... ORPHA:247604
Nephrotic Syndrome, Type 14
Ataxia, Lymphopenia, Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Sy... OMIM:224120
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Hand muscle weakness, Hand tremor, Axonal degeneration, Dysmetria, Onion bulb format... OMIM:302800
Rigid Spine Muscular Dystrophy 1
Failure to thrive, Increased endomysial connective tissue, Decreased body weight, Spinal rigidity... OMIM:602771
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoalbuminemi... ORPHA:2070
Salih Myopathy
Flexion contracture, Mitochondrial depletion, Calf muscle hypertrophy, Scoliosis, Facial palsy, C... OMIM:611705
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Marinesco-Sjogren Syndrome
Failure to thrive, Ataxia, Kyphosis, Flexion contracture, Limb ataxia, Short stature, Rimmed vacu... OMIM:248800
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Spinal rigidity, Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic gi... OMIM:608423
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Axonal degeneration, Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Peripheral axon... OMIM:620011
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor OMIM:617863
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Ataxia, Elevated alpha-fetoprotein, Babinski sign, Abnormal pyramidal sign, Head ... ORPHA:64753
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Cranial nerve compression, Brain atrophy, Short stature, EMG: myop... ORPHA:52430
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Senile plaques, Parkinsonism, Astrocytosis, Abnormal lower motor neuro... ORPHA:100070
Central Core Disease Of Muscle
Nemaline bodies, Weakness of facial musculature, Increased variability in muscle fiber diameter, ... OMIM:117000
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor OMIM:302500
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Blepharospasm, Torsion dystonia OMIM:224500
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Joint contracture of the hand, Scoliosis, Spinal muscular atrophy, Abnormal lower motor neuron mo... OMIM:611067
Smith-Magenis syndrome
Motor stereotypy DECIPHER:8
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... OMIM:618963
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Decreased nerve conduction velocity, Internally nucleated skeletal muscle fibers, Axona... OMIM:618138
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... ORPHA:420485
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Failure to thrive, Decreased nerve conduction velocity, Axonal degeneration, Small for gestationa... OMIM:604320
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hypoglycemia, Hypoalbuminemia, Ascites,... OMIM:617156
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Myopathy, Centronuclear, 2
Kyphosis, Flexion contracture, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Scol... OMIM:255200
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic lateral sclerosis, Ataxia, Hand muscle atrophy, Babinski sign, Spasticity of facial m... OMIM:205100
Rajab Interstitial Lung Disease With Brain Calcifications 2
Arachnodactyly, Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia, Hep... OMIM:619013
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ataxia, Retinal pigment epithelial mottling, Weakness of facial musculature, Increased variabilit... OMIM:607459
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Increased endomysial connective tissue, ... OMIM:618484
Holoprosencephaly, Recurrent Infections, And Monocytosis
Short toe, Monocytosis, Brachydactyly, Tapered finger, Short finger OMIM:610680
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramida... ORPHA:95434
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... ORPHA:86839
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology OMIM:183020
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... OMIM:606324
Nemaline Myopathy 2
Weakness of facial musculature, Increased variability in muscle fiber diameter, Fatty replacement... OMIM:256030
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Ataxia, Flexion contracture of finger, Truncal titubation, Rod-cone dystrophy, Axonal d... ORPHA:88628
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Mitochondrial Myopathy With Diabetes
Ataxia, EMG: myopathic abnormalities, Babinski sign, Weakness of orbicularis oculi muscle, Ragged... OMIM:500002
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombocytopenia, Abnorma... ORPHA:93323
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Quadriceps muscle weakness, Babinski sign, Optic atrophy, Distal lower limb amyotrophy, Postural ... ORPHA:99947
Aceruloplasminemia
Torticollis, Increased circulating ferritin concentration, Ataxia, Blepharospasm, Aceruloplasmine... OMIM:604290
Chorea, Benign Familial
Chorea OMIM:215450
Myopathy, Congenital, With Fiber-Type Disproportion
Failure to thrive, Lumbar hyperlordosis, Type 1 fibers relatively smaller than type 2 fibers, Fac... OMIM:255310
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Tibial Muscular Dystrophy
Clumsiness, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps mus... ORPHA:609
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Short stature, Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Decreased activ... OMIM:616209
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Ankle clonus, Increased v... OMIM:613954
Dystonia 7, Torsion
Torticollis, Oromandibular dystonia, Clumsiness, Blepharospasm, Hand tremor, Writer's cramp, Tors... OMIM:602124
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea OMIM:616939
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Hand muscle weakness, Decreased nerve conduction velocity, Rimmed ... OMIM:606070
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Depletion of ... OMIM:251880
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, F... OMIM:614436
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Cholestasis, Abnormal macrophage morphology, Hepatitis,... ORPHA:292
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Myopathy, Spheroid Body
Broad-based gait, Elevated circulating creatine kinase concentration, Tremor, Waddling gait, Abse... OMIM:182920
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Progressive cerebellar ataxia, Babinski sign, Chore... ORPHA:282166
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Lumbar hyperlordosis, Spinal rigidity, Thigh hypertrophy, Calf muscle hypertrophy, Left ventricul... ORPHA:86812
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function OMIM:615362
Merrf
Ataxia, Short stature, Multiple lipomas, Optic atrophy, Ragged-red muscle fibers, Myopathy ORPHA:551
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Ataxia, Hemiparesis OMIM:141500
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Pes cavus, Elevated circulating creatine kinase concentration, Hammertoe, Trem... OMIM:618387
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Spinal rigidity, EMG: myopathic abnormalities, Minicore myopathy, In... ORPHA:486815
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Hand muscle weakness, Increased endomysial connective tissue, Triceps weakness, EMG: myopathic ab... ORPHA:437572
Oculopharyngodistal Myopathy 3
Ataxia, Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weak... OMIM:619473
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Hypomagnesemia, Lymphopenia, Hypocalcemia, Hypoproteinemia, Abnormal lymphat... ORPHA:90362
King-Denborough Syndrome
Failure to thrive, Kyphoscoliosis, Muscle fiber atrophy, Lumbar hyperlordosis, Short stature, Wea... OMIM:619542
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... OMIM:615424
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... OMIM:615157
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity OMIM:615768
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... OMIM:301075
Spinocerebellar Ataxia Type 35
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... ORPHA:276193
Charcot-Marie-Tooth Disease, Type 4A
Kyphoscoliosis, Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb form... OMIM:214400
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait ataxia, Spa... ORPHA:101109
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Babinski... OMIM:602433
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Chorea, Paroxysmal dyskinesia, Dystonia OMIM:619150
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Hepatomegaly, Flared iliac wing, Splenomegaly, Metaphyseal widening, Leukopeni... OMIM:617303
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... ORPHA:71275
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Cholestatic liver disease, Hepatomegaly, Hemophagoc... ORPHA:540
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Kyphoscoliosis, Scoliosis, Fasciculations, Foot dorsiflexor weakne... OMIM:619574
Alg6-Cdg
Ataxia, Shortening of all distal phalanges of the fingers, Brachydactyly, Decreased LDL cholester... ORPHA:79320
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Dystonia OMIM:605909
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Kyphoscoliosis, Abnormal muscle fiber morphology, Weakness of facial musculature... ORPHA:1145
Immunodeficiency 19
Lymphopenia OMIM:615617
Encephalopathy, Recurrent, Of Childhood
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordination OMIM:130950
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... ORPHA:276435
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... OMIM:615897
Boucher-Neuhauser Syndrome
Ataxia, Spinocerebellar atrophy, Intention tremor, Retinal dystrophy, Distal amyotrophy, Gait ata... OMIM:215470
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Ataxia, Kyphoscoliosis, Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Short ... OMIM:604168
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Paraparesis, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gliosis, Cer... OMIM:105550
Myofibrillar Myopathy 11
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... OMIM:619178
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Throm... OMIM:603552
Hypermanganesemia With Dystonia 1
Hepatomegaly, Poor fine motor coordination, Spastic paraparesis, Bradykinesia, Polycythemia, Cirr... OMIM:613280
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Short stature, Increased variability in muscle fiber diame... OMIM:619042
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number, Short stature, Proximal muscle weakness in lower limbs, Weakness ... ORPHA:457050
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia OMIM:615924
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Failure to thrive, EMG: myopathic abnormalities, Camptodactyly of finger, ... OMIM:614399
Mitochondrial Dna Depletion Syndrome 18
Failure to thrive, Axonal degeneration, Weakness of facial musculature, Hand muscle atrophy, Scol... OMIM:618811
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Motor axonal neuropathy, Dysplastic corpus callosum, Ataxia, Type 1 muscle fib... OMIM:618276
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, Spasticity, Spasti... OMIM:270500
N-Acetylaspartate Deficiency
Motor stereotypy, Truncal ataxia OMIM:614063
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hand tremor, ... ORPHA:79299
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Parkinsonism, Oromotor apr... ORPHA:454887
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... OMIM:212050
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Increased variability in muscle fiber diameter, Scoliosis, Congenital muscul... OMIM:609456
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Hypoalbuminemia, Clubbing ... OMIM:226300
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Talipes equinovarus, Cholestasis, Thrombocytopenia, Camptodactyly, Elevated circula... OMIM:608104
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Cirrhosis, Increased serum iron, Neutr... OMIM:604250
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... OMIM:608358
Parkinson Disease 21
Tremor, Rigidity, Bradykinesia, Parkinsonism OMIM:616361
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Fasciculations OMIM:613728
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Cirr... ORPHA:231226
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Flexion contracture, Rimmed vacuoles, Increased variability in muscle ... OMIM:300718
Primary Lateral Sclerosis, Adult, 1
Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastic tetraparesis, ... OMIM:611637
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... OMIM:604326
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Glucose intolerance, Anemia, Splenomegaly ORPHA:75563
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Short stature, Spastic diplegia, Myoclonus, Increased variability in muscle fiber diamete... OMIM:619065
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Ataxia, Clumsiness, Hepatomegaly, Hyperlysinemia, Leukocytosi... OMIM:615673
Myopathy, Myosin Storage, Autosomal Recessive
Thoracic scoliosis, Short stature, EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-gi... OMIM:255160
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Babinski sign, Spasticity of facial muscles, Spastic dysarthria, Abnor... OMIM:606353
Epilepsy, Progressive Myoclonic, 6
Ataxia, Loss of ambulation, Pes cavus, Elevated circulating creatine kinase concentration, Myoclo... OMIM:614018
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Increased connective tissue, Shoulder girdle muscle ... OMIM:613530
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... OMIM:618278
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Erlenmeyer flask deformity of the femurs, Intention tremor, Myoclonus... OMIM:610539
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... ORPHA:251282
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Hand tremor ORPHA:86814
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemiparesis, Hemolytic anemia, Hepatitis,... ORPHA:444463
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Weakness of facial musculature, Increased variability in muscle fiber diameter, Babi... OMIM:258450
Vacuolar Neuromyopathy
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... OMIM:601846
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Dystonia OMIM:615010
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Elevated circulating creatine kinase concentration, Limb fasciculations, Tremo... ORPHA:90117
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys... OMIM:617284
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spastici... ORPHA:521406
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Back pain, Spinal rigidity, Skeletal muscle hypertrophy, EMG: myopathic a... OMIM:300696
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Enlarged polycystic ... ORPHA:2298
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Slender build, Clumsiness, Bradykinesia, Spinal rigidity, Flexi... ORPHA:171439
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... OMIM:614373
Machado-Joseph Disease Type 3
Progressive cerebellar ataxia, Babinski sign, Spasticity, Distal lower limb amyotrophy, Dystonia,... ORPHA:276244
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Myoclonus, Scoliosis, Lower limb muscle weakness, Limb myoclonus, Abnormal lower moto... ORPHA:2590
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Babinski sign, Scoliosis, Lower limb muscle weakness, Spastic paraplegia, Upper limb sp... OMIM:611225
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibr... OMIM:613313
Bethlem Myopathy 2
Kyphosis, Flexion contracture, Increased variability in muscle fiber diameter, Scoliosis, Atrophi... OMIM:616471
Myopathy, Congenital Proximal, With Minicore Lesions
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Tongue fasciculations, Fat... OMIM:618823
Chronic Bilirubin Encephalopathy
Hypertonia, Cerebral palsy, Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal ... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypertonia, Cerebral palsy, Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal ... ORPHA:529799
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria, Tremor, Cogwheel rigidity ORPHA:363710
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... OMIM:606482
Myopathy, Myofibrillar, 8
Nemaline bodies, Spinal rigidity, Scapular winging, Scoliosis, Joint contracture of the 5th finge... OMIM:617258
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity OMIM:600363
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Kyphosis, Flexion contracture, Optic atrophy, Decreased activity of mitochondr... OMIM:618237
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia OMIM:617830
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... OMIM:618655
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia OMIM:618709
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Myoclonus, Babinski s... ORPHA:204
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Pes cavus, Elevated circulating creatine kinase concentration, Difficulty walking, ... OMIM:251900
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia ORPHA:98763
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Dystonia OMIM:128235
Wilson Disease
Parkinsonism with favorable response to dopaminergic medication, Hepatomegaly, Glycosuria, Tremor... OMIM:277900
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Sensory axonal neuropathy, Increased connective t... ORPHA:238329
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:615234
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:614251
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Spinocerebellar Ataxia 40
Intention tremor, Dysdiadochokinesis, Spastic paraparesis, Dysmetria OMIM:616053
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, Stereotypical hand wringing, Chorea OMIM:618760
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Aceruloplasminemia
Increased circulating ferritin concentration, Ataxia, Limb ataxia, Chorea, Tremor, Aceruloplasmin... ORPHA:48818
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... OMIM:301310
Aicardi-Goutieres Syndrome 9
Hypertonia, Hepatomegaly, Lower limb hypertonia, Left ventricular hypertrophy, Hepatosplenomegaly... OMIM:619487
Avian Influenza
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... ORPHA:454836
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Hypoalbuminemia, Anemia, Lung abscess, Liver abscess ORPHA:67
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, T... ORPHA:169186
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Dystonia, Involuntary movements, Spasticity OMIM:617820
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Flexion contracture, Short stature, Left ventricular noncompaction, Myoclonus, Babinski s... OMIM:252011
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor OMIM:210000
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... OMIM:237800
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Impai... OMIM:606069
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Galloway-Mowat Syndrome 6
Motor stereotypy, Clinodactyly of the 5th finger, Hypoalbuminemia OMIM:618347
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Spasticity OMIM:617393
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Flexion contracture, Impaired distal tactile sensation, Proximal muscle weakness in lower limbs, ... OMIM:607706
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Spinal rigidity, Muscular dystrophy, Scoliosis, Centrally nucleated skeletal muscle fibers OMIM:617066
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, Flexion contracture, Small for gestational age, Retinal hemo... OMIM:615368
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia OMIM:261630
Abetalipoproteinemia
Ataxia, Hepatomegaly, Babinski sign, Reticulocytosis, Cardiomegaly, Broad-based gait, Abnormal ci... ORPHA:14
Amyotrophic Lateral Sclerosis 5, Juvenile
Amyotrophic lateral sclerosis, Babinski sign, Abnormal pyramidal sign, Distal amyotrophy, Abnorma... OMIM:602099
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia OMIM:200900
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, EMG: myopathic abnormalities, Increased variability in mu... ORPHA:266
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Myoclonus, ... OMIM:600795
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Myeloproli... ORPHA:98849
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... OMIM:616199
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Temporal cortical atrophy, Lumbar hyperlordosis, Frontal cortical atrophy, Brain atrophy, Back pa... OMIM:167320
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Kyphosis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, ... ORPHA:75840
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Pedal edema, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Spastic tetraplegia OMIM:615282
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... OMIM:607616
Intellectual Developmental Disorder, X-Linked 109
Recurrent hand flapping, Stereotypical body rocking, Poor coordination OMIM:309548
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Rimmed vacuoles, Increased variability in muscle fiber diameter, Lo... OMIM:616924
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hypertonia, Hepatomegaly, Anisocytosis, Micrognathia, Camptodactyly, Rocker bottom foot OMIM:604273
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Short stature, Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Sc... OMIM:619518
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Scoliosis, Distal sensory impairment, Foot dorsiflexor weakness, Axonal degeneration OMIM:616155
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... OMIM:616959
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Glutathione Synthetase Deficiency
Ataxia, Intention tremor, Hemolytic anemia, Neutropenia, Spastic tetraparesis OMIM:266130
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Retinal degeneration, Abnormal mitochondrial morphology, Optic atrophy... OMIM:300438
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Axial dystonia, Decreased sensory nerve conduction velocity, Flexion contracture, Decreased motor... OMIM:619026
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Incoordination OMIM:213200
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Huntington Disease-Like 2
Action tremor, Bradykinesia, Rigidity, Chorea, Dystonia OMIM:606438
Parkinson-Dementia Syndrome
Tremor, Rigidity, Abnormal pyramidal sign, Parkinsonism OMIM:260540
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Lipoma, Increased muscle glycogen content, Progressive cerebellar ataxia, Dysmetria, Short statur... ORPHA:502423
Fraxe Intellectual Disability
Clumsiness, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Hypoalbuminemia, Hypoproteinemia OMIM:241600
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Spastic Paralysis, Infantile-Onset Ascending
Babinski sign, Scoliosis, Abnormal lower motor neuron morphology, Spastic paraplegia, Spastic tet... OMIM:607225
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Ataxia, Dysmetria, Acute myelomonocytic leukemia, Ankle clonus, Babinski sign... OMIM:159550
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Intention tremor, Abnormal motor neuron morphology, Head tremor, Azoospermia OMIM:613724
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus OMIM:612016
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gliosis, Cerebral atrophy, Myoclonus, Babinski sign, Abnormal upper motor neuron morphology, Spas... OMIM:221770
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Optic neuritis, Cerebral atrophy, Action tremor, Atax... ORPHA:254886
Lethal Congenital Contracture Syndrome 7
Facial diplegia, Cerebral atrophy, Paralysis, Knee flexion contracture, Arthrogryposis multiplex ... OMIM:616286
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Short stature, Type 1 fibers relatively smaller than type 2 fibers, Fronta... OMIM:300580
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor OMIM:606658
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... OMIM:613101
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypertonia, Myoclonus, Hypoglycemia, Unsteady gait, Anemia OMIM:610090
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Spinal rigidity, Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness o... OMIM:619566
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Hepatomegaly, Talipes equinovarus, Splenomegaly, Frequent falls, Tremor, Gait ataxia, Hep... OMIM:616719
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Myopathy, Mitochondrial, And Ataxia
Ataxia, Limb ataxia, Dysmetria, Short stature, Dysdiadochokinesis, Increased variability in muscl... OMIM:617675
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Dystonia ORPHA:324588
Cinca Syndrome
Patellar overgrowth, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinop... OMIM:607115
Autism, Susceptibility To, X-Linked 2
Motor stereotypy OMIM:300495
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Micrognathia, Congenital hepatic fibrosis, Hypoglyc... ORPHA:446
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Abnormal lower motor neuron morphology,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Abnormal lower motor neuron morphology,... OMIM:616437
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin... OMIM:300894
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly OMIM:611762
Amyotrophy, Hereditary Neuralgic
Short stature, Axonal degeneration, Peripheral axonal degeneration, Brachial plexus neuropathy, S... OMIM:162100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Spinocerebellar Ataxia, Autosomal Recessive 23
Ataxia, Hyponatremia, Neutropenia OMIM:616949
Fibronectin Glomerulopathy
Pedal edema, Hypoalbuminemia ORPHA:84090
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Weakness of facial musculature, Centrally nucleated skeletal mus... ORPHA:596
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegal... OMIM:612541
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypocalcemia, Splenomegaly,... ORPHA:37042
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Dystonia 16
Bradykinesia, Laryngeal dystonia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Involuntary... OMIM:612067
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Splenomegaly, Abnormality of tibia morphology, Bowing of the lon... ORPHA:1802
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Motor axonal neuropathy, Ataxia, Cerebral cortical atrophy, Kyphosis, Dysmetria, Short stature, I... ORPHA:48431
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Ataxia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morp... ORPHA:2585
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Abnormality ... OMIM:164500
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Tremor, Motor stereotypy OMIM:619470
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Hyperkinetic movements, Choreoathetosis, Involuntary movements, Dystonia OMIM:618218
Cockayne Syndrome Type 3
Kyphosis, Retinal degeneration, Flexion contracture, Brain atrophy, Intention tremor, Mild postna... ORPHA:90324
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... ORPHA:247598