Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
DnaJ heat shock protein family (Hsp40) member C11
Synonyms:
E030019A03Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dnajc11 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dnajc11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Multicentric Reticulohistiocytosis
Muscle weakness, Cachexia, Histiocytosis ORPHA:139436
Triosephosphate Isomerase Deficiency
Cholelithiasis, Dystonia, Normocytic anemia, Cholecystitis, Splenomegaly, Progressive muscle weak... OMIM:615512
Juvenile Primary Lateral Sclerosis
Abnormal pyramidal sign, Spastic tetraparesis, Spastic gait, Spastic dysarthria, Muscle weakness,... ORPHA:247604
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Microcytic anemia, Hypochromic anemia, Sideroblastic anemia, Pappenheimer bodies, Progressive mus... OMIM:600462
Juvenile Amyotrophic Lateral Sclerosis
Opisthotonus, Dystonia, Muscle weakness, Clonus, Proximal muscle weakness, Axial dystonia, Head t... ORPHA:300605
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Hepatomegaly, Progressive muscle weakness, Growth delay, Respiratory insuff... OMIM:613561
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD4-positive hel... OMIM:617241
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Failure to thrive, B ... OMIM:603554
Oculopharyngodistal Myopathy
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Vocal cord paresis, Loss of a... ORPHA:98897
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Fail... OMIM:300400
Amyotrophic Lateral Sclerosis 2, Juvenile
Spastic tetraparesis, Spastic gait, Dystonia, Abnormal lower motor neuron morphology, Upper limb ... OMIM:205100
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Spastic gait, Spastic dysarthria, Babinski sign, Abnormal upper motor neuro... OMIM:611637
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Myopathy And Diabetes Mellitus
Frequent falls, Inability to walk, Tip-toe gait, Progressive cerebellar ataxia, Neonatal hypotoni... ORPHA:2596
Combined Oxidative Phosphorylation Deficiency 49
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex II, De... OMIM:619024
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Amyotrophic Lateral Sclerosis 8
Fasciculations, Progressive muscle weakness, Distal muscle weakness, Postural tremor, Proximal mu... OMIM:608627
Episodic Ataxia With Slurred Speech
Gait ataxia, Muscle weakness, Slurred speech, Tremor ORPHA:401953
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Fasciculations, Unsteady gait, G... ORPHA:95434
Arts Syndrome
Ataxia, Progressive muscle weakness, Growth delay, Neonatal hypotonia, Tetraplegia, Spinal cord p... OMIM:301835
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ataxia, Generalized hypotonia, Generalized muscle weakness, Cachexia, Hypotonia, P... OMIM:613662
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Limb-girdle muscle weakness, ... ORPHA:98912
Spinocerebellar Ataxia 48
Dysmetria, Dystonia, Parkinsonism, Ataxia, Gait ataxia, Chorea, Cachexia, Babinski sign, Tremor OMIM:618093
Riboflavin Transporter Deficiency
Diabetes insipidus, Ataxia, Limb muscle weakness, Muscle weakness, Bulbar palsy, Myoclonus, Cache... ORPHA:97229
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Muscle weakness, Spasticity, Babinski sign, Tremor OMIM:611105
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Portal hypertension, Thrombocytosis, Splenomegaly... ORPHA:824
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
External ophthalmoplegia, Gait ataxia, Generalized hypotonia, Failure to thrive, Cachexia, Hypoto... OMIM:612075
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, Growth delay, Lymphadenopathy, B lymphocytopenia, Lymphopenia OMIM:619164
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Weight loss ORPHA:52416
Laing Early-Onset Distal Myopathy
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Progressive muscle weakness, ... ORPHA:59135
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Proximal muscle weakness, Abnormal lower motor neuron morphology, Parkinsonism, Apr... ORPHA:275872
Marinesco-Sjogren Syndrome
Ataxia, Progressive muscle weakness, Gait ataxia, Generalized hypotonia, Failure to thrive, Short... OMIM:248800
Infantile Refsum Disease
Ataxia, Hepatomegaly, Progressive muscle weakness, Failure to thrive, Short stature, Spasticity, ... ORPHA:772
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology, Lower limb muscle weakness, Vocal cord paralysis, Distal ... OMIM:607641
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Polycystic ovaries, Cholestasis, Delayed puberty, Limb-girdle muscle weakness,... ORPHA:370
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Progressive muscle weakness, Progressive proximal muscle... ORPHA:399096
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Failure to thrive in infancy, B lymphocytopenia, Abnormally low T cell ... OMIM:618987
Dystonia 31
Parkinsonism, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Abnormal posturing, Diff... OMIM:619565
Ataxia-Telangiectasia
T lymphocytopenia, Dystonia, Leukemia, Female hypogonadism, Choreoathetosis, Decreased proportion... OMIM:208900
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Polycystic ovaries, Limb-girdle muscle weakness, Splenomegaly, Hepatomegaly, Progressive muscle w... ORPHA:79240
Desminopathy
Axial muscle weakness, Loss of ability to walk, Fatigable weakness of bulbar muscles, Progressive... ORPHA:98909
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Growth delay, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Ataxia, Progressive muscle weakness, Anemia, Hypergonadotropic hypogonadism OMIM:607426
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Cryptorchidism, Inability to walk, Paucity of anterior horn motor neurons, Generalized ... OMIM:611890
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Cryptorchidism, Splenomegaly, Hepatomegaly, Growth delay, Neutropenia, A... OMIM:612541
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Aicardi-Goutieres Syndrome 6
Dystonia, Loss of ability to walk, Rigidity, Hemolytic anemia, Tremor OMIM:615010
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Gait disturbance, Abnormality ... OMIM:614561
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Tetraparesis, Proximal muscle weakness in upper limbs, Abnormal lower motor neuron morphology, Lo... OMIM:613954
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Failure to thrive in infancy, Bulbar palsy, Muscle weakness, Generalized hypotonia, Hypotonia, Re... ORPHA:254875
Amish Nemaline Myopathy
Neonatal hypotonia, Respiratory insufficiency due to muscle weakness, Progressive muscle weakness... ORPHA:98902
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Polycystic ovaries, Cholestasis, Delayed puberty, Splenomegaly, Hepatomegaly, ... ORPHA:264580
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Axial muscle weakness, Limb-girdle muscle weakness, Neck muscle weakne... ORPHA:399058
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Foot dorsiflexor weakness, Hypergonadotropic hypogonadism, Externa... ORPHA:298
Wolman Disease
Adrenal insufficiency, Splenomegaly, Hepatomegaly, Growth delay, Anemia, Bone-marrow foam cells, ... ORPHA:75233
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Parkinsonism, Abnormality of the thyroid gland, Progressive muscle weakness, Limb muscle weakness... OMIM:609286
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Hypotonia, Generalized hypotonia, Ataxia, Tremor OMIM:213000
Mirage Syndrome
Hypoplastic spleen, Adrenal insufficiency, Decreased body weight, Leukopenia, Intrauterine growth... OMIM:617053
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Distal muscle weakness, Difficulty walking, Tremor OMIM:158580
Multifocal Motor Neuropathy
Fasciculations, Progressive distal muscle weakness, Progressive muscle weakness, Limb muscle weak... ORPHA:641
Leukoencephalopathy with metaphyseal chondrodysplasia
Gait disturbance, Babinski sign, Spastic paraplegia, Tremor OMIM:300660
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Abnormal lower motor neuron morphology, Frequent falls, Lower limb muscle weakn... ORPHA:2590
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy, Weight loss ORPHA:100024
Primary Lateral Sclerosis, Juvenile
Spastic tetraparesis, Spastic gait, Spastic dysarthria, Spasticity of pharyngeal muscles, Spastic... OMIM:606353
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Limb muscle weakness, Muscle weakness, Spasticity, Abnorm... OMIM:614373
Combined Oxidative Phosphorylation Deficiency 45
Decreased activity of mitochondrial complex I, Ataxia, Muscle weakness, Failure to thrive, Decrea... OMIM:618951
Spinocerebellar Ataxia 43
Ataxia, Gait ataxia, Rigidity, Limb ataxia, Tremor OMIM:617018
Ataxia-Telangiectasia
Polycystic ovaries, Ataxia, Gait disturbance, Failure to thrive, Short stature, Spasticity, Aplas... ORPHA:100
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Abnormal pyramidal sign, Fasciculations, Distal muscle we... OMIM:602099
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism, Axial muscle weakness, Respiratory insufficiency due to muscle weakness, Progress... ORPHA:663
Barth Syndrome
Abnormality of neutrophils, Abnormal mitochondrial morphology ORPHA:111
Immunoneurologic Disorder, X-Linked
Progressive proximal muscle weakness, Neonatal hypotonia, Spastic paraplegia, Small for gestation... OMIM:300076
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Splenomegaly, Hepatomegaly, Ataxia, Gait ataxia, Spasticity, Hepatic fibrosis, Tr... OMIM:616719
Congenital Muscular Dystrophy Due To Lmna Mutation
Axial muscle weakness, Hypotonia, Poor head control, Cachexia, Gait disturbance ORPHA:157973
Reticular Dysgenesis
Leukopenia, Abnormality of mitochondrial metabolism, Abnormality of neutrophils, Anemia, Failure ... ORPHA:33355
Barth Syndrome
Granulocytopenia, Growth delay, Abnormal mitochondrial morphology, Neutropenia, Failure to thrive... OMIM:302060
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia, Weight loss ORPHA:517
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Parkinsonism, Resting tremor, Bradykinesia, Facial palsy, Progressive muscle weakness, Testicular... OMIM:157640
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormality of the spleen, Cachexia, Abnormality of mesen... ORPHA:93941
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Intrauterine growth retardation, Abnormal muscle tone ORPHA:89844
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Muscle weakness, Distal muscle weakness, Tremor OMIM:614369
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Distal muscle weakness, Spasticity... OMIM:607317
Finnish Upper Limb-Onset Distal Myopathy
Steppage gait, Progressive distal muscle weakness, Progressive proximal muscle weakness, Clumsine... ORPHA:399086
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Ataxia, Spasticity, Premature ovarian insufficiency, Tremor OMIM:615889
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Progressive muscle weakness, Short stature, Failure to thrive, Mitochondrial hypertrophy, Prematu... OMIM:619518
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Growth delay, Hypotonia, Weight loss ORPHA:79238
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Absence of lymph node germinal center, Absent tonsils, Failure to thrive, B ly... ORPHA:277
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Distal Nebulin Myopathy
Foot dorsiflexor weakness, Slender build, Progressive distal muscle weakness, Progressive proxima... ORPHA:399103
Nemaline Myopathy 5
Progressive muscle weakness, Tremor OMIM:605355
Majeed Syndrome
Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Hepatomegaly, Failure to thrive, Cache... ORPHA:77297
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Failure to thrive, Thrombocytopenia,... OMIM:615285
Peroxisome Biogenesis Disorder 11B
Muscle weakness, Generalized hypotonia, Progressive muscle weakness, Hypotonia OMIM:614885
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Hepatomegaly, Ovarian neoplasm, Anemia, Lymphadenopathy, Cachexia, Abnormali... ORPHA:83469
Christianson Syndrome
Dystonia, Motor stereotypy, Gait ataxia, Cachexia, Truncal ataxia, Ophthalmoplegia ORPHA:85278
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Ataxia, Reticulocytosis, Tremor OMIM:612126
Myopathy, Spheroid Body
Waddling gait, Muscle weakness, Distal muscle weakness, Proximal muscle weakness, Neck flexor wea... OMIM:182920
Spinal Muscular Atrophy, Jokela Type
Muscle weakness, Fasciculations, Difficulty walking, Tremor OMIM:615048
Spinocerebellar Ataxia Type 38
Gait ataxia, Distal muscle weakness, Difficulty walking, Tremor ORPHA:423296
Mulibrey Nanism
Short stature, Intrauterine growth retardation, Hepatomegaly, Cachexia ORPHA:2576
Spastic Paraparesis And Deafness
Short stature, Spastic paraparesis, Hypogonadism, Tremor OMIM:312910
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology, Distal muscle weakness, Respiratory insufficiency due to ... OMIM:611067
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Dysmetria, Dystonia, Delayed puberty, Ataxia, Short stature, Spast... OMIM:607694
Autosomal Recessive Centronuclear Myopathy
Gowers sign, Waddling gait, Progressive muscle weakness, Generalized hypotonia, Facial palsy, Fac... ORPHA:169186
Distal Myotilinopathy
Progressive distal muscle weakness, Progressive proximal muscle weakness, Loss of ability to walk... ORPHA:98911
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Poor head control, Hypotonia, Tremor OMIM:619561
Leukoencephalopathy With Dystonia And Motor Neuropathy
Intention tremor, Azoospermia, Head tremor, Abnormal motor neuron morphology, Torticollis, Hyperg... OMIM:613724
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Proximal muscle weakness, Weakness of muscles of respiration, Hepatic steatosis, Fasciculations, ... ORPHA:52430
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormality of mitochondrial metabolism, Cryptorchidism, Tremor, Anemia, Short stature, Gait dist... ORPHA:1192
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrauterine growth retardation, Cryptorchidism, Intrahepatic biliary dysgenesis, Jaundice, Hepat... OMIM:214110
Whipple Disease
Hypothyroidism, Abnormal pyramidal sign, Splenomegaly, Hepatomegaly, Ataxia, Muscle weakness, Ane... ORPHA:3452
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia, Lower limb spasticity... ORPHA:251282
Dk1-Cdg
Progressive muscle weakness, Failure to thrive, Short stature, Infantile muscular hypotonia, Seve... ORPHA:91131
Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Ataxia, Lymphadenopathy, Weight loss ORPHA:98293
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent... OMIM:601457
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Frequent falls, Gowers sign, Limb-girdle muscle weakness, Loss of ability to walk, Bilateral faci... ORPHA:254361
Myopathy, Scapulohumeroperoneal
Foot dorsiflexor weakness, Progressive muscle weakness, Facial palsy, Neck flexor weakness, Wrist... OMIM:616852
Myopathy With Extrapyramidal Signs
Proximal muscle weakness, Frequent falls, Leukocytosis, Dystonia, Choreoathetosis, Gowers sign, S... OMIM:615673
Distal Myopathy With Anterior Tibial Onset
Limb-girdle muscle weakness, Progressive proximal muscle weakness, Tibialis muscle weakness ORPHA:178400
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Facial hypotonia, Failure to thrive in infancy, Intrauterine growth retardation, Inability to wal... OMIM:616801
Aredyld Syndrome
Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Short stature, Type II diabetes mell... ORPHA:1133
Duchenne Muscular Dystrophy
Proximal muscle weakness, Waddling gait, Progressive muscle weakness ORPHA:98896
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Gowers sign, Fasciculations, Degeneration of anterior horn cells, Respiratory ins... OMIM:159950
Salla Disease
Vacuolated lymphocytes, Inability to walk, Athetosis, Ataxia, Growth delay, Generalized hypotonia... OMIM:604369
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Obesity, Ataxia, Unsteady gait, Generalized hypotonia, S... OMIM:614947
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of memory B cells, Decreased proportion of CD4-positive h... OMIM:618204
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Dysmetria, Frequent falls, Involuntary movements, Bradykinesia, ... ORPHA:157941
Pelizaeus-Merzbacher Disease
Dystonia, Choreoathetosis, Failure to thrive in infancy, Ataxia, Gait disturbance, Short stature,... ORPHA:702
Myopathy, Myofibrillar, 4
Progressive distal muscle weakness, Progressive proximal muscle weakness, Progressive muscle weak... OMIM:609452
Cronkhite-Canada Syndrome
Anemia, Splenomegaly, Hepatomegaly, Cachexia ORPHA:2930
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Leukocytosis, Intrauterine growth retardation, Thrombocytosis, Interface hepatitis, Autoimmune he... OMIM:243150
Huntington Disease-Like 2
Parkinsonism, Dystonia, Involuntary movements, Chorea, Gait disturbance, Weight loss ORPHA:98934
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, External ophthalmoplegia, Unsteady gait, Spasticity, Limb ataxia, Truncal ataxia, Babinsk... OMIM:615768
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Growth delay, Neutropenia, Anemia, Generalized hypotonia, Hypotonia, Thrombocytop... OMIM:614857
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Tremor, Growth delay, Neutropenia, Generalized hypotonia, Hypertonia OMIM:617248
Subacute Inflammatory Demyelinating Polyneuropathy
Frequent falls, Leukocytosis, Choreoathetosis, Steppage gait, Muscle weakness, Distal muscle weak... ORPHA:206594
Dna2-Related Mitochondrial Dna Deletion Syndrome
Gowers sign, Decreased mitochondrial number, Limb-girdle muscle weakness, Slender build, Generali... ORPHA:352470
O'Sullivan-Mcleod Syndrome
Eosinophilia, Atrophy of the spinal cord, Fasciculations, Upper limb muscle weakness, Cold paresi... ORPHA:99965
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Decreased plasma total carnitine, Fatigable weakness of neck muscles, Ataxia, ... ORPHA:42
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Tremor, Limb dystonia, Upp... ORPHA:216873
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Pearson Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Hypothyroidism, Macronodular cirrhosis, Anemia, ... ORPHA:699
Niemann-Pick Disease, Type C1
Neurofibrillary tangles, Dystonia, Cataplexy, Splenomegaly, Hepatomegaly, Ataxia, Gait ataxia, Ge... OMIM:257220
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
Gabriele-De Vries Syndrome
Dystonia, Intrauterine growth retardation, Cryptorchidism, Waddling gait, Tremor OMIM:617557
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Folate Malabsorption, Hereditary
Leukopenia, Athetosis, Ataxia, Folate-responsive megaloblastic anemia, Neutropenia, Generalized h... OMIM:229050
Moynahan Syndrome
Hypogonadism, Short stature, Cachexia ORPHA:2574
Rhabdoid Tumor
Neoplasm of the liver, Cerebral palsy, Anemia, Hemiplegia, Lymphadenopathy, Oculomotor nerve pals... ORPHA:69077
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Ataxia, Tremor OMIM:615945
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia, Hypotonia ORPHA:1216
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... OMIM:618534
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Parkinsonism, Paralysis, Bulbar palsy, Muscle weakness, A... OMIM:105500
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Intrauterine growth retardation, Splen... OMIM:609981
Purine Nucleoside Phosphorylase Deficiency
Tetraparesis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Spastic dip... OMIM:613179
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased mitoc... ORPHA:457050
Mcdonough Syndrome
Cryptorchidism, Short stature, Cachexia ORPHA:2471
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Foot dorsiflexor weakness, Tremor, Steppage gait, Limb muscle weakness, Distal muscle weakness, S... OMIM:609260
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Muscle weakness, Rigidity, Babinski sign, Gait disturbance, Postural trem... ORPHA:314632
Mitochondrial Myopathy With Lactic Acidosis
Dysmetria, Dystonia, Gowers sign, Growth delay, Tip-toe gait, Muscle weakness, Generalized hypoto... OMIM:251950
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Unsteady gait, Axial hypotonia, Chorea, Tremor ORPHA:494526
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Abnormality of the liver, Progressive muscle weakness, Limb muscle weakness, Generalized hypotoni... OMIM:610131
Niemann-Pick Disease, Type C2
Neurofibrillary tangles, Dystonia, Cataplexy, Splenomegaly, Hepatomegaly, Ataxia, Generalized hyp... OMIM:607625
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Ataxia, Unsteady gait, Gait ataxia, Generalized hypotonia, Short statu... OMIM:213200
X-Linked Charcot-Marie-Tooth Disease Type 3
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Spastic paraparesis, Inabilit... ORPHA:101077
Immunodeficiency 55
Intrauterine growth retardation, Neutropenia, Short stature, Lymphadenopathy, Postnatal growth re... OMIM:617827
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Failure to thrive, Poor head control, Myoclonus, Tremor OMIM:619651
Infantile Krabbe Disease
Opisthotonus, Spastic diplegia, Lower limb spasticity, Muscle weakness, Neck muscle weakness, Fai... ORPHA:206436
Gracile Bone Dysplasia
Hypoplastic spleen, Failure to thrive, Asplenia, Short stature OMIM:602361
Sialidosis Type 2
Splenomegaly, Hepatomegaly, Ataxia, Muscle weakness, Generalized hypotonia, Short stature, Tremor ORPHA:87876
Immunodeficiency, Common Variable, 1
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, B lymphocytopen... OMIM:607594
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Boucher-Neuhauser Syndrome
Hypogonadotropic hypogonadism, Intention tremor, Ataxia, Gait ataxia, Spasticity, Decreased circu... OMIM:215470
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Combined Oxidative Phosphorylation Deficiency 18
Dysmetria, Macrocytic anemia, Intrauterine growth retardation, Generalized hypotonia, Hypotonia, ... OMIM:615578
X-Linked Creatine Transporter Deficiency
Dystonia, Athetosis, Ataxia, Short stature, Chorea, Cachexia, Hypotonia, Hypertonia ORPHA:52503
Primary Lateral Sclerosis
Atrophy of the spinal cord, Spastic gait, Cervical spinal cord atrophy, Spastic dysarthria, Weakn... ORPHA:35689
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Fasciculations,... ORPHA:276435
Hyperphenylalaninemia, Bh4-Deficient, D
Generalized hypotonia, Hypertonia, Tremor OMIM:264070
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Neuropathy, Congenital Hypomyelinating, 3
Dystonia, Facial diplegia, Spasticity, Cachexia, Babinski sign OMIM:618186
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly, Weight loss ORPHA:86893
Neutral Lipid Storage Disease With Ichthyosis
Hepatic steatosis, Hepatomegaly, Ataxia, Short stature, Progressive proximal muscle weakness, Abn... ORPHA:98907
Wilson Disease
Hepatic steatosis, Weight loss, Cirrhosis, Proximal muscle weakness in lower limbs, Splenomegaly,... ORPHA:905
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Spastic tetraplegia, Spastic paraplegia, Muscle weakness,... OMIM:607225
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Generalized hypotonia, Short stature, Ataxia, Tremor OMIM:617862
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Intention tremor, Gait ataxia, Postural tremor, Thrombocytopenia, Myoclonus OMIM:254900
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym... ORPHA:507
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Short stature, Asplenia ORPHA:3204
Hypermanganesemia With Dystonia 1
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Hepatomegaly, Steppage gait, Rigidity,... OMIM:613280
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Intrauterine growth retardation, Torticollis OMIM:617022
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Abnormal lower motor neuron morphology, Extrapyramidal dyskinesia, Parkinsonism, Ap... OMIM:105550
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Weight loss ORPHA:66661
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cholelithiasis, Paralysis, Hepatosplenomegaly, Ophthalmoplegia, Delayed puberty, Az... ORPHA:2072
Diencephalic Syndrome
Decreased body weight, Abnormality of the hypothalamus-pituitary axis, Cachexia ORPHA:1672
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Japanese Encephalitis
Distal lower limb muscle weakness, Hypertonia, Paralysis, Opisthotonus, Dystonia, Choreoathetosis... ORPHA:79139
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Fasciculations, Bulbar palsy, Muscle weakness, Amyotrophi... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Fasciculations, Bulbar palsy, Muscle weakness, Amyotrophi... OMIM:616437
Migraine, Familial Hemiplegic, 1
Ataxia, Hemiplegia, Hemiparesis, Tremor OMIM:141500
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Failure to thrive, Aplasia of the thymus, Lymphopenia, Abnormal T cell morpho... OMIM:242700
Juvenile Huntington Disease
Dystonia, Oral motor hypotonia, Bradykinesia, Ataxia, Progressive cerebellar ataxia, Gait ataxia,... ORPHA:248111
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Scissor gait, Spasticity, L... ORPHA:521406
Classic Pantothenate Kinase-Associated Neurodegeneration
Frequent falls, Opisthotonus, Generalized dystonia, Inability to walk, Gait disturbance, Spastici... ORPHA:216866
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia, Hypertonia ORPHA:1389
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Spasticity, Ataxia, Tremor OMIM:614307
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Growth delay, Ataxia, Spasticity, Tremor OMIM:278780
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Dystonia, Hepatomegaly, Ataxia, Spasticity, Myoclonus, Tremor OMIM:615924
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Shuffling gait, Bradykinesia, Rigidity, Spastici... OMIM:615528
Machado-Joseph Disease Type 3
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Dystonia, Spinocerebellar tract ... ORPHA:276244
Carcinoma Of Esophagus
Lymphadenopathy, Obesity, Weight loss ORPHA:70482
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Gait disturbance, Dysdiadochokinesis, Limb dysmetria, Truncal ataxia, Falls, M... ORPHA:363710
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmu... OMIM:615559
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Lower limb muscle weakness, Lower limb spasticity, Spastic paraplegia, Clonus, Babi... OMIM:600363
Renpenning Syndrome
Severe short stature, Growth delay, Diabetes mellitus, Cachexia, Decreased testicular size ORPHA:3242
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Gait disturbance, Kinetic tremor, Tremor OMIM:611808
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Spasticity, Babinski sign, Gait disturbance, Abnormal upper motor neuron morphology, Myo... OMIM:221770
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Huntington Disease
Dystonia, Involuntary movements, Bradykinesia, Inability to walk, Gait disturbance, Gait imbalanc... ORPHA:399
Bone Marrow Failure Syndrome 2
Leukopenia, Bone marrow hypocellularity, Anemia, Neonatal hypotonia, Thrombocytopenia OMIM:615715
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cryptorchidism, Degeneration of anterior horn cells, Distal muscle weakness, Generalized hypotoni... ORPHA:1145
Monomelic Amyotrophy
Muscle weakness, Fasciculations, Degeneration of anterior horn cells, Tremor ORPHA:65684
Camurati-Engelmann Disease
Leukopenia, Slender build, Splenomegaly, Hepatomegaly, Ataxia, Muscle weakness, Anemia, Cachexia,... ORPHA:1328
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ... OMIM:618986
Syndromic Diarrhea
Hepatoblastoma, Abnormality of the liver, Cirrhosis, Hypothyroidism, Small for gestational age, I... ORPHA:84064
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Absent circulating B cells OMIM:613500
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Atypical Rett Syndrome
Dystonia, Pill-rolling tremor, Apraxia, Stereotypical hand wringing, Involuntary movements, Abnor... ORPHA:3095
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Tremor, Poor coordination, Spasticity, Clumsiness, Babinski sign, Spastic ataxia, Broa... OMIM:270500
Sporadic Infantile Bilateral Striatal Necrosis
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Gait disturbance, Gait ataxia, Hemiplegia, ... ORPHA:225147
Bethlem Myopathy
Foot dorsiflexor weakness, Axial muscle weakness, Gowers sign, Limb-girdle muscle weakness, Muscl... ORPHA:610
Ataxia-Telangiectasia-Like Disorder 2
Ataxia, Progressive muscle weakness, Unsteady gait, Muscle weakness, Short stature OMIM:615919
Sneddon Syndrome
Facial palsy, Lymphopenia, Hemiplegia, Tremor OMIM:182410
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Spastic Paraplegia Type 7
Abnormal pyramidal sign, Spastic gait, Lower limb muscle weakness, Abnormal mitochondrial morphol... ORPHA:99013
Hsd10 Disease
Choreoathetosis, Spastic paraparesis, Ataxia, Rigidity, Infantile muscular hypotonia, Gait distur... ORPHA:391417
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Ataxia, Generalized hypotonia, Hypotonia, Proximal muscle weakness, Myoc... OMIM:612016
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Rett Syndrome
Dystonia, Gait apraxia, Gait ataxia, Short stature, Spasticity, Cachexia, Truncal ataxia OMIM:312750
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Broad-based gait, B lymphocytopenia, Absent circulating B cells, Decreased proportio... OMIM:619705
Stormorken Syndrome
Howell-Jolly bodies, Anemia, Short stature, Asplenia, Proximal muscle weakness, Thrombocytopenia OMIM:185070
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Leukocytosis, Central hypothyroidism, Cervical lymphadenopathy, Anemia, Acute... ORPHA:514
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Foot dorsiflexor weakness, Ataxia, Steppage gait, Gait ataxia, Distal muscle weakness,... OMIM:618387
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Hypothyroidism, ... ORPHA:37042
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Muscle weakness, Anemia, Cachexia OMIM:175500
Spinocerebellar Ataxia 18
Dysmetria, Limb muscle weakness, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Small for gestational age, Bradykinesia, Ata... OMIM:261640
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Failure to thrive, B lymphocytopenia, Perianal abscess, Reduced natural killer... OMIM:618108
Flynn-Aird Syndrome
Primary adrenal insufficiency, Abnormality of the thyroid gland, Ataxia, Type II diabetes mellitu... ORPHA:2047
Gerstmann-Straussler Disease
Neurofibrillary tangles, Parkinsonism, Apraxia, Lower limb muscle weakness, Bradykinesia, Gait at... OMIM:137440
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Intrauterine growth retardation, Spastic tetraplegia, Severe failure to thrive, Hypotonia, Neonat... ORPHA:371364
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Absent circulating B cells, Transient neutropenia OMIM:619707
Isolated Succinate-Coq Reductase Deficiency
Proximal muscle weakness, Spastic tetraparesis, Frequent falls, Intrauterine growth retardation, ... ORPHA:3208
Mohr-Tranebjaerg Syndrome
Spasticity, Dystonia, Abnormal posturing, Tremor OMIM:304700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Autoimmune... OMIM:102700
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Ataxia, Lymphadenopathy, Weight loss ORPHA:391
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Degeneration of anterior horn... OMIM:602433
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Progressive proximal muscle weakness, Chorea, Infantile muscular hypotonia, Truncal ataxia, Diffi... ORPHA:369847
Agammaglobulinemia 6, Autosomal Recessive
B lymphocytopenia, Abnormal T cell morphology OMIM:612692
Heme Oxygenase 1 Deficiency
Thrombocytosis, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hepatomegaly, Growth ... OMIM:614034
Dystonia 11, Myoclonic
Generalized hypotonia, Hypotonia, Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
Hsd10 Mitochondrial Disease
Choreoathetosis, Spastic tetraplegia, Abnormal mitochondrial morphology, Generalized hypotonia, S... OMIM:300438
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Tremor, Hypotonia, Myoclonus, Hypertonia OMIM:261630
Huntington Disease-Like 2
Action tremor, Dystonia, Bradykinesia, Rigidity, Chorea, Weight loss OMIM:606438
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia ORPHA:318
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Vitamin B12-Unresponsive Methylmalonic Acidemia
Tetraparesis, Macrocytic anemia, Leukopenia, Choreoathetosis, Hepatomegaly, Ataxia, Paraparesis, ... ORPHA:27
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Tremor OMIM:615362
Motor Neuropathy, Peripheral, With Dysautonomia
Progressive muscle weakness OMIM:252320
Chediak-Higashi Syndrome
Foot dorsiflexor weakness, Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly,... OMIM:214500
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Dystonia, Resting tremor, Parkinsonism, Facial hypotonia, Apraxia, Choreoathetosis,... OMIM:300055
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Increased serum serotonin, Chronic noninfectious lymphadenopa... ORPHA:100083
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Hypertonia, Blepharospasm, Generalized hypotonia, Hypotonia, Torticollis, Write... OMIM:128100
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Progressive cerebellar ataxia, Paraparesis, Muscle weakness, Abnormality... ORPHA:99
Oculopharyngeal Myopathy With Leukoencephalopathy 1
External ophthalmoplegia, Ataxia, Distal muscle weakness, Proximal muscle weakness, Tremor OMIM:618637
Neuroectodermal Melanolysosomal Disease
Tremor, Ataxia, Rigidity, Spasticity, Hypotonia, Hypertonia ORPHA:33445
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Schistocytosis, Sideroblastic anemia, Splenomegaly, Ataxia, Growth delay, Generalized hypotonia, ... OMIM:616084
Autosomal Spastic Paraplegia Type 58
Abnormal pyramidal sign, Dysmetria, Frequent falls, Intention tremor, Fasciculations, Tip-toe gai... ORPHA:397946
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Unsteady gait, Progressive cerebellar ataxia, Upper motor neuron dysfunction, Distal ... ORPHA:137898
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Ataxia, Cachexia ORPHA:1933
Follicular Lymphoma
Splenomegaly, Lymphadenopathy, Abnormality of the peritoneum, Mediastinal lymphadenopathy, Weight... ORPHA:545
Dopa-Responsive Dystonia
Parkinsonism, Dystonia, Generalized dystonia, Oculogyric crisis, Leg dystonia, Inability to walk,... ORPHA:255
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Small for gestational age, Oculogyric crisis, Bradykinesia, Limb hypertonia, Growth del... ORPHA:70594
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism, Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:168100
Infantile Neuronal Ceroid Lipofuscinosis
Dysmetria, Dystonia, Myoclonic spasms, Ataxia, Unsteady gait, Spasticity, Chorea, Poor head contr... ORPHA:79263
Congenital Fiber-Type Disproportion Myopathy
Foot dorsiflexor weakness, Fatigable weakness of bulbar muscles, Progressive muscle weakness, Fai... ORPHA:2020
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Portal h... ORPHA:98850
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Ataxia, Muscle weakness, Hemolytic anemia, Reticulocytosis, Decreased hemoglobin concentration, T... ORPHA:713
Spinocerebellar Ataxia 7
Supranuclear ophthalmoplegia, Dysmetria, Progressive cerebellar ataxia, Spasticity, Chorea, Babin... OMIM:164500
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
X-Linked Intellectual Disability, Cabezas Type
Obesity, Tremor, Short stature, Broad-based gait, Cachexia, Hypogonadism, Decreased testicular size ORPHA:85293
Neutral Lipid Storage Myopathy
Hepatic steatosis, Foot dorsiflexor weakness, Pineal cyst, Gowers sign, Cholecystitis, Fasciculat... ORPHA:98908
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Unsteady gait, Generalized hypotonia, Hypotonia, Truncal ataxia, Tremor OMIM:616127
Behr Syndrome
Dysmetria, Ataxia, Progressive spasticity, Gait disturbance, Babinski sign, Tremor OMIM:210000
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Oculogyric crisis, Inability to walk, Difficulty walking, Delayed menarche, Abnormality... ORPHA:330050
Spastic Paraplegia 9A, Autosomal Dominant
Lower limb muscle weakness, Lower limb spasticity, Spastic paraplegia, Gait disturbance, Short st... OMIM:601162
Microphthalmia, Syndromic 9
Hypoplastic spleen, Intrauterine growth retardation, Cryptorchidism, Generalized hypotonia, Short... OMIM:601186
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Abnormal testis morphology, Neutrophilia, Anemia, Liver abscess, Abn... ORPHA:54251
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:600116
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hypothyroidism, Hepatosplenomegaly, Failure to thrive in infancy, Decreased pr... OMIM:606367
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Inability to walk, Generalized hypotonia, Rigidity, Gait disturbance, Tremor OMIM:618090
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia, Hypotonia, Proximal muscle weak... ORPHA:139485
Silver-Russell Syndrome
Intrauterine growth retardation, Failure to thrive in infancy, Cryptorchidism, Obesity, Premature... ORPHA:813
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Resting tremor, Shuffling gait, Obesity, Lower limb spasticity, Short stature, Macr... ORPHA:3077
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Intrauterine growth retardation, Normochromic microcytic anemia... OMIM:610198
Tbck-Related Intellectual Disability Syndrome
Hypothyroidism, Cryptorchidism, Hyperthyroidism, Central adrenal insufficiency, Progressive muscl... ORPHA:488632
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor OMIM:616187
Spinocerebellar Ataxia Type 14
Gait ataxia, Generalized hypotonia, Progressive cerebellar ataxia, Rigidity, Limb ataxia, Myoclon... ORPHA:98763
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Dysmetria, Ataxia, Gait ataxia, Muscle weakness, Poor motor coordination, Short stature, Spastici... ORPHA:1170
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... ORPHA:240103
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Growth delay, Polycythemia, Methemoglobinemia, Hypertonia OMIM:250800
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphadenitis, Au... ORPHA:331206
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Generalized hypotonia, Tremor OMIM:617917
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Jaundice, Ataxia, Abnormalit... ORPHA:381
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
4H Leukodystrophy
Hypogonadotropic hypogonadism, Dysmetria, Dystonia, Abnormality of thyroid physiology, Ataxia, De... ORPHA:289494
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Lower limb muscle weakness, Inability to walk, Fatiguable weakness of proxim... ORPHA:90117
Sialidosis Type 1
Splenomegaly, Ataxia, Gait disturbance, Muscle weakness, Short stature, Hypotonia, Slurred speech... ORPHA:812
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Bradykinesia, Ataxia, Generalized hypotonia, Short stature, Rigidity, Tremor OMIM:617836
Brain Dopamine-Serotonin Vesicular Transport Disease
Spastic tetraparesis, Hypertonia, Dystonia, Parkinsonism, Shuffling gait, Oculogyric crisis, Atax... ORPHA:352649
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia, Hypotonia ORPHA:1438
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly, Weight loss ORPHA:42642
Leukodystrophy, Hypomyelinating, 6
Dystonia, Choreoathetosis, Ataxia, Short stature, Rigidity, Spasticity, Tremor OMIM:612438
Aicardi-Goutieres Syndrome 9
Hepatic steatosis, Acute pancreatitis, Hepatosplenomegaly, Dystonia, Portal hypertension, Hypothy... OMIM:619487
Jaberi-Elahi Syndrome
Dysmetria, Dystonia, Choreoathetosis, Inability to walk, Gait ataxia, Generalized hypotonia, Fail... OMIM:617988
Pulmonary Blastoma
Weight loss ORPHA:64741
Vici Syndrome
Abnormality of the thymus, Decreased proportion of CD4-positive helper T cells, Growth delay, Gen... OMIM:242840
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Tetrasomy 12P
Short stature, Cachexia, Hypotonia ORPHA:884
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Dysmetria, Hand tremor, Frequent falls, Gait disturbance, Paraparesis, Distal mus... OMIM:302800
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Anemia, Muscle weakness, Lymphadenopathy, Th... ORPHA:520
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Hypothyroidism, Chronic neutropenia, Autoimmune hemolytic anemia, Autoimmune thromb... OMIM:614700
Lopes-Maciel-Rodan Syndrome
Abnormal pyramidal sign, Hypertonia, Dystonia, Bradykinesia, Tremor, Unsteady gait, Spasticity, A... OMIM:617435
Corticobasal Syndrome
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Limb apraxia, Limb dystonia, Speech ... ORPHA:454887
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Parkinsonism, Dystonia, Tremor, Ataxia, Distal muscle wea... OMIM:614298
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Primary adrenal insufficiency, Hepatosplenomegaly, Vacuolated l... ORPHA:275761
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Limb hypertonia, Ataxia, Unsteady gait, Generalized hypotonia, Failure to ... ORPHA:442835
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Failure to thrive, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Chronic Beryllium Disease
Abnormal proportion of CD4-positive T cells, Mediastinal lymphadenopathy, Weight loss ORPHA:133
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Rigidity, Spasticity, Clumsiness, Tremor OMIM:612953
Immunodeficiency 92
Sclerosing cholangitis, Leukocytosis, Cholangitis, Thrombocytosis, Hepatomegaly, B lymphocytopeni... OMIM:619652
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Abnormal eosinophil morphology, Neutropenia, Anemia, Hemolyt... ORPHA:906
Spastic Paraplegia 9B, Autosomal Recessive
Foot dorsiflexor weakness, Spastic paraplegia, Tremor, Growth delay, Short stature, Tetraplegia, ... OMIM:616586
Cataract-Ataxia-Deafness Syndrome
Short stature, Hypertonia, Ataxia, Tremor ORPHA:1368
X-Linked Agammaglobulinemia
Thrombocytopenia, Neutropenia, Anemia, Failure to thrive, Short stature, Hepatitis, Abnormality o... ORPHA:47
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Parkinsonism, Ataxia, Bulbar palsy, Babinski sign, Proximal muscle weakness, Amyotrophic lateral ... OMIM:615911
Microsporidiosis
Lymphadenitis, Cholangitis, Peritonitis, Decreased proportion of CD4-positive helper T cells, Abn... ORPHA:2552
Holocarboxylase Synthetase Deficiency
Ataxia, Growth delay, Hypotonia, Thrombocytopenia, Weight loss ORPHA:79242
Aceruloplasminemia
Parkinsonism, Dystonia, Blepharospasm, Abnormal pancreas morphology, Involuntary movements, Crani... ORPHA:48818
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Bradykinesia, Tre... OMIM:613135
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Dysmetria, Dystonia, Apraxia, Spastic paraparesis, Bradykinesia, Ataxia, Muscle w... OMIM:615157
X-Linked Charcot-Marie-Tooth Disease Type 4
Distal muscle weakness, Gait disturbance, Ataxia, Tremor ORPHA:101078
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Generalized dystonia, Intention tremor, Inabi... OMIM:312080
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Lower limb spasticity, Ataxia, Impaired tandem gait, Myoclonus, Tremor OMIM:619028
Cockayne Syndrome
Action tremor, Cryptorchidism, Severe short stature, Diabetes mellitus, Absence of pubertal devel... ORPHA:191
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy, Tremor ORPHA:3162
Spinocerebellar Ataxia 2
Dysmetria, Action tremor, Dysdiadochokinesis, Parkinsonism, Spinocerebellar tract degeneration, F... OMIM:183090
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Cryptorchidism, Truncal obesity, Gait disturbance, Short stature, Spas... OMIM:300957
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Port... ORPHA:79124
Congenital Disorder Of Glycosylation, Type Ie
Splenomegaly, Hepatomegaly, Ataxia, Generalized hypotonia, Failure to thrive, Hypotonia, Tremor OMIM:608799
19Q13.11 Microdeletion Syndrome
Intrauterine growth retardation, Cryptorchidism, Supernumerary nipple, Growth delay, Failure to t... ORPHA:217346
Isaacs Syndrome
Muscle weakness, Fasciculations, Weight loss ORPHA:84142
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Prolonged neonatal jaundice, Biliary tract abnormality, Infantile muscu... ORPHA:79234
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Choreoathetosis, Ataxia, External ophthalmoplegia, Growth delay, Muscle weakness, Tremor OMIM:619422
Polyglucosan Body Neuropathy, Adult Form
Tetraparesis, Abnormal upper motor neuron morphology, Spastic paraplegia, Gait disturbance OMIM:263570
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysmetria, Dystonia, Hypertonia, Ataxia, Gait disturbance, Muscle weakne... ORPHA:96
Amyotrophic Lateral Sclerosis 1
Fasciculations, Degeneration of anterior horn cells, Muscle weakness, Spasticity, Amyotrophic lat... OMIM:105400
Sandifer Syndrome
Torticollis, Anemia, Abnormal posturing ORPHA:71272
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Hepatomegaly, Anemia, Failure to thrive, Severe short-limb dwarfism, Hypotonia, Weigh... ORPHA:1842
Atypical Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Freezing of gait, Focal dystonia, Extrapyramidal muscular ... ORPHA:99750
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes, Intrauterine growth retardation, Adrenal hypoplasia ORPHA:563609
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Dystonia, Limb muscle weakness, Shoulder girdle muscle weakness, Gait disturbance, Facial palsy, ... OMIM:167320
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hypotonia, Spastic tetraparesis, Broad-based gait, Tremor OMIM:619470
Felty Syndrome
Abnormal lymphocyte morphology, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Neutrope... ORPHA:47612
Hypermanganesemia With Dystonia 2
Ankle clonus, Parkinsonism, Opisthotonus, Dystonia, Generalized dystonia, Bradykinesia, Tremor, T... OMIM:617013
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Upper limb spasticity, Tremor, Overweight, Gait disturbance, Short stature, Hyp... ORPHA:457240
Typhoid
Splenomegaly, Ataxia, Hepatomegaly, Tremor, Hypertonia ORPHA:99745
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Combined Immunodeficiency-Enteropathy Spectrum
Intrauterine growth retardation, Rectal abscess, Hashimoto thyroiditis, Autoimmune hemolytic anem... ORPHA:436252
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Failure to thrive, Severe muscular hypotonia, Babinski sign, Difficulty walki... ORPHA:477673
Wolfram Syndrome 1
Hypothyroidism, Sideroblastic anemia, Diabetes insipidus, Megaloblastic anemia, Ataxia, Growth de... OMIM:222300
Late-Infantile/Juvenile Krabbe Disease
Frequent falls, Spastic diplegia, Spastic paraparesis, Lower limb spasticity, Ataxia, Upper limb ... ORPHA:206443
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Dysmetria, Dystonia, Ataxia, Gait disturbance, Gait ataxia, Limb ataxia,... OMIM:617145
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Puberty and gonadal disorders, Intrauterine growth retardatio... ORPHA:525731
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Muscle weakness, Respiratory insufficiency due to muscle weakness, Spasticity, Babinski sign, Amy... OMIM:612069
Neuroblastoma, Susceptibility To, 1
Spinal cord compression, Ataxia, Anemia, Failure to thrive, Weight loss, Myoclonus OMIM:256700
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Thrombocytopenia, Absent circulating B cells OMIM:619693
Thymic Aplasia
T lymphocytopenia, Hypothyroidism, Coombs-positive hemolytic anemia, Decreased proportion of naiv... ORPHA:83471
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Tetraparesis, Abnormal pyramidal sign, Action tremor, Opisthotonus, Dystonia, Frequent falls, Ina... OMIM:607483
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of memory B cells, Failure to thrive in infancy, Decrease... OMIM:619510
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Ataxia, Anemia, Failure to th... OMIM:267700
Neuronal Intranuclear Inclusion Disease
Ataxia, Muscle weakness, Rigidity, Gait disturbance, Tremor OMIM:603472
Dystonia 12
Parkinsonism, Dystonia, Bradykinesia, Unsteady gait, Torticollis, Tremor OMIM:128235
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Dysmetria, Inability to walk, Ataxia, Gait ataxia, Short stature, Dysdia... OMIM:614831
Combined Oxidative Phosphorylation Deficiency 38
Failure to thrive, Abnormal mitochondrial morphology, Decreased activity of mitochondrial complex IV OMIM:618378
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Gm1 Gangliosidosis
Decerebrate rigidity, Hepatosplenomegaly, Dystonia, Generalized dystonia, Splenomegaly, Ataxia, U... ORPHA:354
Spinocerebellar Ataxia 23
Dysmetria, Gait ataxia, Limb ataxia, Babinski sign, Tremor OMIM:610245
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Ataxia, Growth delay, Spasticity, Oculomotor apraxia, Tremor OMIM:612716
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypothyroidism, Action tremor, Dystonia, Repetitive compulsive ... ORPHA:66634
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Falls, Bradykinesia, Rigidity, Parkinsonism with favorable response to dopaminergic med... ORPHA:240085
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Muscle weakness, Short stature, Hemolytic anemia, Cachexia, Acute le... ORPHA:647
Wars2-Related Combined Oxidative Phosphorylation Defect
Dysmetria, Intrauterine growth retardation, Spastic tetraplegia, Athetosis, Limb hypertonia, Limb... ORPHA:572798
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex I, Spastic paraparesis, Decreased activity of mitocho... OMIM:500013
Refractory Celiac Disease
Microcytic anemia, Normocytic anemia, Abnormal spleen physiology, Iron deficiency anemia, Increas... ORPHA:398063
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Muscle weakness, Fasciculations, Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619141
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hemiballismus, Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Inability to wa... OMIM:618877
Kufor-Rakeb Syndrome
Hypertonia, Parkinsonism, Dystonia, Bradykinesia, Spastic paraplegia, Ataxia, Akinesia, Parapares... OMIM:606693
Thymic Carcinoma
Fatigable weakness, Neoplasm of the thymus, Diaphragmatic paralysis, Mediastinal lymphadenopathy,... ORPHA:99868
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Gait disturbance ORPHA:2774
Amyotrophic Lateral Sclerosis 18
Muscle weakness, Fasciculations, Amyotrophic lateral sclerosis, Spasticity OMIM:614808
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss ORPHA:1164
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Generalized hypotonia, Chorea, Truncal ataxia, Myoclonus, Tremor OMIM:618587
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Generalized hypotonia, Ataxia, Tremor OMIM:619099
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Paraparesis, Muscle weakness, Gait disturbance, Tremor ORPHA:99014
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Bradykinesia, Resting tremor, Tremor OMIM:616710
Hypoglossia With Situs Inversus
Polysplenia, Asplenia OMIM:612776
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Myoclonus, Tremor OMIM:608105
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Spastic dysarthria, Bradykinesia, Progressive cerebellar ataxia, Gait at... ORPHA:282166
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Hepatic steatosis, Abnormal pyramidal sign, Hyperinsulinemia, Hepatomegaly, Limb dy... ORPHA:363400
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Abnormality of extrapyramida... OMIM:300894
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Hepatomegaly, Neutropenia, Anemia, Failure to thrive, Generalized hypotonia, Hypoto... OMIM:251100
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Distal muscle weakness, Cachexia, Progressive external ophthalmoplegia, Weight loss OMIM:603041
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, Apraxia, Inability to walk, Gait ataxia, Spasticity, Hypotonia, Tremor OMIM:617810
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Dysmetria, Intention tremor, Ataxia, Steppage gait, Gait ataxia, Generalized hypotoni... OMIM:616505
Tuberculosis
Weight loss ORPHA:3389
Leukodystrophy, Hypomyelinating, 11
Ataxia, Failure to thrive, Spasticity, Myoclonus, Tremor OMIM:616494
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor OMIM:613608
Urocanase Deficiency
Short stature, Ataxia, Tremor OMIM:276880
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Action tremor, Dystonia, Portal hypertension, Abnormality of the liver, Dysdiadochokinesis, Spast... ORPHA:309854
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Decreased proportion of CD3-positive T cells, Growth delay, Abnormal... ORPHA:90362
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Muscle weakness, Spasticity, Infantile muscular hypotonia, Tremor OMIM:618718
Chédiak-Higashi Syndrome
Pancytopenia, Atrophy of the spinal cord, Spastic paraplegia, Abnormal leukocyte morphology, Anem... ORPHA:167
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Splenomegaly, Hepatomegaly, Tremor, Ataxia, Failure t... OMIM:201100
Amyotrophic Lateral Sclerosis 9
Distal muscle weakness, Amyotrophic lateral sclerosis, Spasticity OMIM:611895
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Athetosis, Gait disturbance, Rigid... OMIM:213600
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Abnormal pyramidal sign, Dystonia, Bone marrow hypocellularity, Intrauterine growth retardation, ... OMIM:612199
Progressive Non-Fluent Aphasia
Apraxia, Abnormal lower motor neuron morphology, Abnormality of extrapyramidal motor function, Pa... ORPHA:100070
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology, Weight loss ORPHA:3165
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Ataxia, Tremor ORPHA:101075
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Exocrine pancreatic insufficiency, Decreased activity of mitochondrial complex I, Hypertonia, Dec... OMIM:616539
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Bab... OMIM:619063
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Abnormal size of pituitary gland, Decreased circulating androgen ... ORPHA:293978
12Q14 Microdeletion Syndrome
Syringomyelia, Intrauterine growth retardation, Failure to thrive, Short stature, Abnormality of ... ORPHA:94063
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Weight loss, Cachexia ORPHA:1979
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Bone marrow hypocellularity, Rhizomelic arm shortening, Thrombocytopenia, Neutropenia... ORPHA:508542
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysmetria, Short stature, Dysdiadochokinesis, Truncal ataxia, Tremor OMIM:610185
Autoimmune Polyendocrinopathy Type 3
Central diabetes insipidus, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Thym... ORPHA:227982
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Bulbar palsy, Testicular atrophy, Limb muscle weakness, Tremor OMIM:313200
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Beta-Ketothiolase Deficiency
Extrapyramidal dyskinesia, Leukocytosis, Thrombocytosis, Hepatomegaly, Ataxia, Spasticity, Hypoto... ORPHA:134
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in upper limbs, Atrophy of the spinal cord, Distal upper limb muscle wea... ORPHA:466768
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Dysmetria, Diabetes insipidus, Spastic gait, Ataxia, Acanthocytosis, Short... ORPHA:96180
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Dystonia, Bradykinesia, Generalized hypotonia, Hemiparesis, Difficulty walking, Tremor ORPHA:306669
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Incoordination, Abnormal pyramidal sign, Cryptorchidism, Ataxia, Generalized hy... OMIM:618060
Kaposi Sarcoma
Abnormality of the liver, Weight loss, Abnormality of the spleen, Generalized lymphadenopathy ORPHA:33276
Autoimmune Polyendocrinopathy Type 4
Central diabetes insipidus, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Thym... ORPHA:227990
Juvenile Polyposis Of Infancy
Anemia, Short stature, Generalized hypotonia, Cachexia, Refractory anemia ORPHA:79076
Trisomy 18
Intrauterine growth retardation, Cryptorchidism, Growth delay, Spina bifida, Short stature, Cache... ORPHA:3380
Pyruvate Dehydrogenase Deficiency
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Intrauterine growth retardation, Ataxia, Cere... ORPHA:765
Alzheimer Disease 3
Spastic tetraparesis, Neurofibrillary tangles, Dystonia, Apraxia, Babinski sign, Gait disturbance... OMIM:607822
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Inability to walk, Tremor, Ataxia, Failure to thrive, Hypotonia, Hypertonia OMIM:619556
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Ataxia, Myoclonus, Tremor OMIM:614018
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Choreoathetosis, Oculomotor apraxia, Ataxia, Gait ataxia, Truncal ataxia, Muscle weakne... OMIM:208920
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Leukopenia, Leukocytosis, Thrombocytosis, Lipid accumulation in hepatocytes, ... ORPHA:20
Eosinophilic Gastroenteritis
Weight loss, Anemia, Leukocytosis, Eosinophilia ORPHA:2070
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Dystonia, Obesity, Tremor, Generalized hypotonia, Postnatal growth retardation, Spastic diplegia ORPHA:480907
Oculopharyngodistal Myopathy 3
Ataxia, Limb muscle weakness, Neck muscle weakness, Ophthalmoplegia, Tremor OMIM:619473
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal pyramidal sign, Parkinsonism, Neurofibrillary tangles, Resting tremor, Akinesia, Limb dy... OMIM:616840
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Myopathy, Mitochondrial, And Ataxia
Dysmetria, Hyperthyroidism, Inability to walk, Ataxia, Increased circulating prolactin concentrat... OMIM:617675
Diamond-Blackfan Anemia 5
Leukopenia, Short stature, Macrocytic anemia, Reticulocytopenia, Erythroid hypoplasia OMIM:612528
22Q11.2 Deletion Syndrome
Cholelithiasis, Hypothyroidism, Occipital myelomeningocele, Intrauterine growth retardation, Cryp... ORPHA:567
Alveolar Echinococcosis
Eosinophilia, Biliary cirrhosis, Portal hypertension, Pancreatic cysts, Cutaneous abscess, Cholan... ORPHA:284
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Bradykinesia, Ataxia, Laryngeal dystonia,... OMIM:606159
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Short stature, Aplasia of the thymus ORPHA:3004
Amyotrophic Lateral Sclerosis 21