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Gene: Pgam5 MGI:1919792

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Gene Summary

Name:
phosphoglycerate mutase family member 5
Synonyms:
2610528A17Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating glucose level Pgam5tm1b(EUCOMM)Wtsi HOM Early adult 5.64×10-08
decreased exploration in new environment Pgam5tm1b(EUCOMM)Wtsi HOM   Early adult 8.01×10-12
short tibia Pgam5tm1b(EUCOMM)Wtsi HOM   Early adult 9.88×10-06
increased mean corpuscular volume Pgam5tm1b(EUCOMM)Wtsi HOM Early adult 2.22×10-07
decreased total retina thickness Pgam5tm1b(EUCOMM)Wtsi HOM Early adult 9.72×10-08
decreased circulating serum albumin level Pgam5tm1b(EUCOMM)Wtsi HOM Early adult 6.47×10-08
increased circulating creatinine level Pgam5tm1b(EUCOMM)Wtsi HOM Early adult 4.99×10-07
decreased erythrocyte cell number Pgam5tm1b(EUCOMM)Wtsi HOM Early adult 2.02×10-06
decreased circulating cholesterol level Pgam5tm1b(EUCOMM)Wtsi HOM Early adult 6.15×10-05
decreased circulating HDL cholesterol level Pgam5tm1b(EUCOMM)Wtsi HOM Early adult 7.37×10-05
decreased circulating total protein level Pgam5tm1b(EUCOMM)Wtsi HOM Early adult 3.62×10-06

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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.

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Human diseases caused by Pgam5 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 Pgam5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Striatal Degeneration, Autosomal Dominant 1
Hypokinesia, Bradykinesia, Dysdiadochokinesis, Rigidity, Gait disturbance, Degeneration of the st... OMIM:609161
Spinocerebellar Ataxia Type 12
Ataxia, Hypokinesia, Bradykinesia, Action tremor, Poor fine motor coordination, Cerebral atrophy,... ORPHA:98762
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Brain atrophy, Resting tremor, Myoclonus, Abnormal pyr... ORPHA:391411
Cyanide-Induced Parkinsonism-Dystonia
Cerebral cortical atrophy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling... ORPHA:306692
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... OMIM:205950
Corticobasal Syndrome
Akinesia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
Autosomal Dominant Spastic Paraplegia Type 3
Bradykinesia, Lower limb hypertonia, Tip-toe gait, Impaired vibratory sensation, Ankle clonus, Ba... ORPHA:100984
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Cerebral atrophy, Babinski sign, Parkinsonism, Rigidity, Falls, Gait... OMIM:300423
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Bradykinesia, Parkinsonism, Falls, Abnormal neuron morphology, Diffuse cerebral atrophy, Shufflin... ORPHA:412066
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Cerebral atrophy, Rigidity, Parkinsonism, Gait disturbance, Tremor OMIM:600116
Spastic Paraplegia 78, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Bradykinesia, Resting tremor, Impaired vibratory sensation, Ba... OMIM:617225
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity ORPHA:228169
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Neuronal loss in central nervous system, Bradykinesia, Parkinsonism, Rigidity, Corpus callosum at... OMIM:221820
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Hand tremor, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... ORPHA:98764
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Intention tremor, Tremor by anatomical site, Abnormal pyr... ORPHA:101110
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Akinesia, Ataxia, Hypokinesia, Bradykinesia, Parkinsonism with favorable... OMIM:606693
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor OMIM:168100
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Akinesia, Freezing of gait, Loss of ambulation, Blepharospasm, Falls, Spastic dys... ORPHA:240094
Spinocerebellar Ataxia Type 21
Akinesia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia... ORPHA:98773
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, Postural tremor ORPHA:210571
Huntington Disease
Neuronal loss in central nervous system, Bradykinesia, Rigidity, Chorea, Gait ataxia, Cerebellar ... OMIM:143100
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Hypokinesia, Bradykinesia, Increased mitochondrial number, Babinski sign, Decreased activity of m... OMIM:619063
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Freezing of gait, Bradykinesia, Clumsiness, Resting tremor, Parkinsonism, Rigidity, Pos... OMIM:619911
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Neuronal loss in central nervous system, Bradykinesia, Dysmetria, Limb ... OMIM:607136
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Loss of ambulation, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinski sign, Parkinsonism, Tr... ORPHA:521406
Segawa Syndrome, Autosomal Recessive
Hypokinesia, Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Parkinso... OMIM:605407
Neurodegeneration With Brain Iron Accumulation 6
Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Neurodegeneration, Gait disturbance, S... OMIM:615643
Frontotemporal Dementia With Motor Neuron Disease
Paraparesis, Progressive cerebellar ataxia, Babinski sign, Abnormal mitochondrial morphology, Par... ORPHA:275872
Spastic Paraplegia 80, Autosomal Dominant
Bradykinesia, Limb ataxia, Babinski sign, Gait disturbance, Spastic paraplegia, Upper limb spasti... OMIM:618418
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Atrophy/Degeneration affecting the brains... OMIM:619862
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Hypoalbuminemia, Hypoproteinemia OMIM:241600
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Manganese Poisoning
Hypertonia, Akinesia, Bradykinesia, Abnormality of extrapyramidal motor function, Gait disturbanc... ORPHA:306682
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Bradykinesia, Resting tremor OMIM:616710
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations OMIM:183050
Spinocerebellar Ataxia 21
Akinesia, Ataxia, Progressive cerebellar ataxia, Limb ataxia, Intention tremor, Parkinsonism, Cog... OMIM:607454
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkinsonism, Chorea OMIM:618317
Juvenile Huntington Disease
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... ORPHA:248111
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Ataxia, Bradykinesia, Chorea OMIM:618683
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Cerebral atrophy, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasti... OMIM:617435
Parkinson Disease 19A, Juvenile-Onset
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... OMIM:615528
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Spastic paraparesis, Axonal degeneration, Dysd... OMIM:615157
Spasticity, Childhood-Onset, With Hyperglycinemia
Spastic diplegia, Babinski sign, Abnormal pyramidal sign, Gait disturbance, Decreased activity of... OMIM:616859
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... OMIM:616689
Spastic Paraplegia Type 7
Cerebral cortical atrophy, Impaired vibration sensation in the lower limbs, Babinski sign, Abnorm... ORPHA:99013
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic tetraparesis, Spastic gait, Abnormal pyramidal sign, Bradykinesia OMIM:619052
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Gait ataxia, Cerebellar atrophy ORPHA:71517
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Pes cavus, Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait OMIM:128235
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Hypokinesia, Bradykinesia, Myoclonus, Babinski sign, Parkinsonism, Rigidity, Gait ataxia,... ORPHA:101150
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Rigidity, Parkinsonism, Neurodegeneration, T... OMIM:300894
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... OMIM:615234
Developmental And Epileptic Encephalopathy 37
Hypokinesia, Cerebral atrophy, Myoclonus, Rigidity, Hyperkinetic movements, Chorea, Gait disturba... OMIM:616981
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, In... OMIM:267700
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Anemia, Thrombocytop... OMIM:610539
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Chorea, Tremor, Spasticity, Postural tremor, Tongue f... ORPHA:99
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Hypertonia, Bradykinesia, Limb ataxia, Babinski sign, Parkinsonism, Rigidity OMIM:618824
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Akinesia, Parkinsonism with favorable response to dopaminergic medication, Bradyk... ORPHA:240071
Caribbean Parkinsonism
Action tremor, Bradykinesia, Cerebral cortical atrophy, Myoclonus, Rigidity, Parkinsonism, Weakne... ORPHA:97355
Huntington Disease
Gait imbalance, Hypokinesia, Inability to walk, Bradykinesia, Poor fine motor coordination, Clums... ORPHA:399
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Cholestasis, Progressive Familial Intrahepatic, 10
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... OMIM:619868
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Huntington Disease-Like 1
Hypokinesia, Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Cerebral cortical... ORPHA:157941
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Brain atrophy, Cerebral cortical hemiatrophy, Parkinsonism, Hemiparesis, Tremor, Di... ORPHA:306669
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Pedal edema, Lymphopenia OMIM:152800
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Postencephalitic Parkinsonism
Akinesia, Bradykinesia, Resting tremor, Diminished movement, Tremor by anatomical site, Babinski ... ORPHA:97349
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pes cavus, Distal lower limb muscle weakness, Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Akinesia, Ataxia, Resting tremor, Intention tremor, Dysdiadochokinesis, Babinski sign, Parkinsoni... ORPHA:247234
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Choreoathetosis OMIM:261640
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity, Falls, T... ORPHA:240085
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Abnormal mitochondrial morphology, Choreoathetosis, Spasticity, Spasti... OMIM:300438
Spinocerebellar Ataxia Type 1
Gait imbalance, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Postural tremor, Dysdiado... ORPHA:98755
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Sensory ataxia, Spastic paraparesis, Impaired vibratory sensation, Babinski sign, Mitochondrial h... OMIM:500013
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Omenn Syndrome
Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, ... OMIM:603554
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Action tre... ORPHA:254886
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Spinocerebellar Ataxia 2
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Impai... OMIM:183090
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Developmental Delay And Seizures With Or Without Movement Abnormalities
Rigidity, Tremor, Ataxia, Bradykinesia OMIM:617836
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Hypertonia, Bradykinesia, Limb hypertonia, Parkinsonism OMIM:617384
Lissencephaly Type Iii And Bone Dysplasia
Neuronal loss in central nervous system, Akinesia, Central nervous system degeneration OMIM:601160
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy, Steatorrhea, Decreased HDL cholesterol concentration, A... OMIM:615558
Spinocerebellar Ataxia 10
Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Babinski... OMIM:603516
Fragile X Tremor/Ataxia Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Dysmetria, Resting tremor, Intention t... OMIM:300623
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Dystonia 16
Bradykinesia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Involuntary m... OMIM:612067
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Typ... OMIM:616860
Infantile Dystonia-Parkinsonism
Hypertonia, Hypokinesia, Bradykinesia, Limb hypertonia, Abnormal pyramidal sign, Parkinsonism, Ce... ORPHA:238455
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Type I diabetes mellitus... OMIM:620044
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, M... ORPHA:247585
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Hypoalbuminemia, Clubbing of fingers, Cl... OMIM:226300
Inherited Creutzfeldt-Jakob Disease
Senile plaques, Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ... ORPHA:282166
Perry Syndrome
Akinesia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Short stepped shuffling gait OMIM:168605
Hypermanganesemia With Dystonia 2
Hypokinesia, Inability to walk, Bradykinesia, Clumsiness, Tip-toe gait, Opisthotonus, Cerebral at... OMIM:617013
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, He... OMIM:603553
Leber Optic Atrophy And Dystonia
Upper motor neuron dysfunction, Bradykinesia, Spasticity, Athetosis OMIM:500001
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:613643
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Neurodegeneration With Brain Iron Accumulation 1
Akinesia, Ataxia, Bradykinesia, Blepharospasm, Babinski sign, Abnormal pyramidal sign, Parkinsoni... OMIM:234200
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Cerebral cortical atrophy, Resting tremor, Abnormal pyramidal sign, Rigidity, Parkinson... OMIM:616840
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hypoplasia of the femoral head, Th... OMIM:209950
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Ri... OMIM:619279
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Myoclonus, Rigidity, Hyperkinetic movements, Fall... ORPHA:13
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Inability to walk, Bradykinesia, Cerebral atrophy, Myoclonus, Parkinsonism, Truncal a... OMIM:618877
Combined Oxidative Phosphorylation Deficiency 6
Hypokinesia, Decreased activity of mitochondrial complex IV, Involuntary movements, Tongue fascic... OMIM:300816
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... ORPHA:90044
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Bradykinesia, Blepharospasm, Extrapyramidal muscular rigidity, Tremor by anatom... ORPHA:99750
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Bradykinesia, Blepharospasm, Babinski sign, Parkinsonism, Rigidity, Chorea, Neurodegenera... OMIM:606159
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombocytopenia, Abnorma... ORPHA:93323
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Hypoalbuminemia OMIM:617156
Alg6-Cdg
Retinal degeneration, Shortening of all distal phalanges of the fingers, Rod-cone dystrophy, Brac... ORPHA:79320
Dna2-Related Mitochondrial Dna Deletion Syndrome
Gait disturbance, Difficulty walking, Decreased mitochondrial number ORPHA:352470
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Retinal hemorrha... ORPHA:86839
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Pedal edema, Hypoalbuminemia, Hypercho... ORPHA:86816
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia OMIM:615889
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh... OMIM:300055
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Combined Oxidative Phosphorylation Deficiency 38
Failure to thrive, Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology OMIM:618378
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Spinocerebellar Ataxia Type 8
Ataxia, Cerebellar vermis atrophy, Bradykinesia, Limb ataxia, Impaired vibratory sensation, Rigid... ORPHA:98760
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cognitive impairment, Mental deterioration, Pes cavus, Elevated circulating creatine kinase conce... OMIM:208920
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Cerebellar a... ORPHA:329284
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Drusen ORPHA:54370
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Photoreceptor layer loss on macular OCT, Anisocytosis, Decreas... OMIM:616959
Machado-Joseph Disease
Ataxia, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Impaired vibratory sensation, B... OMIM:109150
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Bradykinesia ORPHA:306686
Hereditary Late-Onset Parkinson Disease
Akinesia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Cerebral... ORPHA:411602
Aceruloplasminemia
Torticollis, Akinesia, Ataxia, Blepharospasm, Limb ataxia, Parkinsonism, Rigidity, Chorea, Tremor... ORPHA:48818
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Hand tremor, Babinski sign, Parkinsonism, Rigidity, Gait distu... ORPHA:289560
Supranuclear Palsy, Progressive, 2
Gait imbalance, Akinesia, Neuronal loss in central nervous system, Bradykinesia, Retrocollis, Gra... OMIM:609454
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Akinesia, Tongue fasciculations OMIM:618822
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Combined Oxidative Phosphorylation Deficiency 1
Hypertonia, Hypokinesia, Decreased activity of mitochondrial ATP synthase complex, Decreased acti... OMIM:609060
Supranuclear Palsy, Progressive, 1
Gait imbalance, Senile plaques, Akinesia, Neuronal loss in central nervous system, Bradykinesia, ... OMIM:601104
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Combined Oxidative Phosphorylation Deficiency 12
Bradykinesia, Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial... OMIM:614924
Parkinson Disease 6, Autosomal Recessive Early-Onset
Rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:605909
Huntington Disease-Like 2
Rigidity, Action tremor, Bradykinesia, Chorea OMIM:606438
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Bradykinesia, Poor fine motor coordination, Tremor, Generalized cerebral atrophy/hypoplas... ORPHA:36387
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Ataxia, Bradykinesia, Dysmetria, Truncal ataxia, Hemiparesis, Gait ataxia, Incoordination, Episod... OMIM:601338
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Rajab Interstitial Lung Disease With Brain Calcifications 2
Arachnodactyly, Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia OMIM:619013
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Congenital Disorder Of Glycosylation, Type Ij
Micrognathia, Clinodactyly of the 5th finger, Aggressive behavior, Hypoproteinemia OMIM:608093
Diaminopentanuria
Ataxia, Neurodegeneration, Spasticity OMIM:222350
Primary Progressive Freezing Gait
Gait imbalance, Cerebral cortical atrophy, Bradykinesia, Babinski sign, Rigidity, Frequent falls,... ORPHA:75567
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypertonia, Akinesia, Decreased activity of mitochondrial respiratory chain, Hypothyroidism, Spas... OMIM:619147
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Nephrotic Syndrome, Type 14
Lymphopenia, Mental deterioration, Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Glycogen Storage Disease Vi
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Dengue Fever
Leukopenia, Thrombocytopenia, Hypoproteinemia ORPHA:99828
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Delayed menarche, Tremor, Difficulty walking, Diffuse cerebral atrophy, Cerebe... ORPHA:330050
Leishmaniasis
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Pancytopenia, Anemia, ... ORPHA:507
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Spinocerebellar Ataxia 28
Limb ataxia, Babinski sign, Abnormal activity of mitochondrial respiratory chain, Parkinsonism, S... OMIM:610246
Multiple System Atrophy
Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal sign, Rigidity, P... ORPHA:102
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... OMIM:137440
Spinocerebellar Ataxia Type 13
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Myoclonus, Titubation, Impaired distal vibrat... ORPHA:98768
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils, Clinodactyly of the 5th finger, Ra... ORPHA:2760
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Resting tremor, Abnor... ORPHA:227510
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Bradykinesia, Limb ataxia, Intention tremor, Positive Romberg sign, Babinski sign, Truncal ataxia... OMIM:258450
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Homocystinuria, Hyper... OMIM:277410
Neuropathy, Congenital Hypomyelinating, 2
Hypokinesia, Inability to walk, Sensory ataxia OMIM:618184
Combined Oxidative Phosphorylation Deficiency 2
Hypokinesia, Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mito... OMIM:610498
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Hypomethioninemia, Syndactyly, Macrocytic anemia,... ORPHA:2169
Hypermanganesemia With Dystonia 1
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Parkinsonism, Rigidity, Tremor, ... OMIM:613280
Dravet Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Myoclonus, Parkinsonism, Rigidity, Cog... ORPHA:33069
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hypoalbuminemia OMIM:618805
Fibronectin Glomerulopathy
Pedal edema, Hypoalbuminemia ORPHA:84090
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Lower limb spasticity, Bradykinesia OMIM:618878
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Failure to thrive OMIM:619518
Congenital Disorder Of Glycosylation, Type Ih
Talipes equinovarus, Camptodactyly, Elevated circulating creatinine concentration, Hypoalbuminemi... OMIM:608104
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism, Cogwheel rigidity, Shuffling gait OMIM:311510
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Multiple System Atrophy, Parkinsonian Type
Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal sign, Parkinsonis... ORPHA:98933
Maternal Uniparental Disomy Of Chromosome 4
Rod-cone dystrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Hyp... ORPHA:96180
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Squalene Synthase Deficiency
2-3 toe syndactyly, Micrognathia, Optic nerve hypoplasia, Slender long bone, Increased circulatin... OMIM:618156
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Micrognathia, Macrocytic anemia, ... OMIM:612561
Parkinson Disease 1, Autosomal Dominant
Hypokinesia, Bradykinesia, Resting tremor, Myoclonus, Parkinsonism, Rigidity, Gait disturbance, S... OMIM:168601
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Ataxia, Hypokinesia, Tongue fasciculations OMIM:620007
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Babinski ... ORPHA:225147
Nephrotic Syndrome, Type 11
Arachnodactyly, Micrognathia, Partial duplication of thumb phalanx, Clinodactyly, Hypoalbuminemia... OMIM:616730
Shwachman-Diamond Syndrome
Steatorrhea, Aplastic anemia, Macrocytic anemia, Proximal femoral epiphysiolysis, Pancytopenia, L... ORPHA:811
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Neurodegeneration With Brain Iron Accumulation 2B
Hypertonia, Bradykinesia, Cerebral atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Babi... OMIM:610217
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Parkinsonism-Dystonia 1, Infantile-Onset
Hypertonia, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Hyperkinetic m... OMIM:613135
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Increased circulating ferritin concentration, Neutropenia, Abnorma... ORPHA:167
Progressive Supranuclear Palsy
Neuronal loss in central nervous system, Cerebral cortical atrophy, Bradykinesia, Blepharospasm, ... ORPHA:683
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Cerebral cortical atrophy, Cerebral atrophy, Abnormal pyramidal sign, Parkinsonism, Rigid... OMIM:617672
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinophilia, H... ORPHA:2070
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Amyotrophic lateral sclerosis, Fasciculations, Neuronal loss in central nervous... OMIM:608030
Adult-Onset Nemaline Myopathy
Difficulty walking, Bradykinesia ORPHA:171442
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Neutro... ORPHA:292
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Ataxia, Bradykinesia, Impaired vibration sensation in the lower limbs, Babinski sign... ORPHA:98808
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating cre... ORPHA:26793
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Pyruvate Dehydrogenase Phosphatase Deficiency
Decreased activity of the pyruvate dehydrogenase complex, Gait ataxia OMIM:608782
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia, Type I diabetes mellitus ORPHA:275555
Johanson-Blizzard Syndrome
Anemia, Hypoproteinemia, Diabetes mellitus ORPHA:2315
Hepatoportal Sclerosis
Hyperbilirubinemia, Splenomegaly, Cognitive impairment, Leukopenia, Hypoalbuminemia, Anemia, Thro... ORPHA:64743
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... ORPHA:300298
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Neurodegeneration, Cerebral atrophy, Cerebellar atrophy OMIM:610951
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Abn... ORPHA:2298
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia... OMIM:607143
Parkinson Disease, Late-Onset
Neuronal loss in central nervous system, Bradykinesia, Resting tremor, Parkinsonism, Rigidity, Tr... OMIM:168600
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Parkinson Disease 14, Autosomal Recessive
Loss of ambulation, Clumsiness, Bradykinesia, Resting tremor, Hand tremor, Ankle clonus, Pill-rol... OMIM:612953
Childhood-Onset Spasticity With Hyperglycinemia
Hypertonia, Ataxia, Spastic diplegia, Myoclonus, Babinski sign, Spastic dysarthria, Decreased act... ORPHA:401866
Childhood-Onset Nemaline Myopathy
Difficulty walking, Clumsiness, Bradykinesia, Waddling gait ORPHA:171439
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Rod-cone dystrophy, Retinal dystrophy, Steatorrhea OMIM:266510
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Diffuse cerebellar atrophy, Bradykinesia, Cerebral cortical atrophy, Dysmetria, Intention... ORPHA:93256
Rett Syndrome
Motor stereotypy, Inability to walk, Bradykinesia, Increased serum leptin, Stereotypical hand wri... ORPHA:778
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Splenomegaly, Hypoglycemia, Generalized aminoaciduria, Hypoalbuminemia, Throm... OMIM:251880
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... ORPHA:247598
Developmental And Epileptic Encephalopathy 28
Hypokinesia, Cerebral atrophy, Rigidity, Spasticity OMIM:616211
Leber Hereditary Optic Neuropathy
Ataxia, Mitochondrial respiratory chain defects, Postural tremor ORPHA:104
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Cognitive impairment, Schistocytosis, Elevated cir... OMIM:235400
Myopathy, Congenital, Compton-North
Akinesia OMIM:612540
Wolcott-Rallison Syndrome
Metaphyseal dysplasia, Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia,... ORPHA:1667
Galloway-Mowat Syndrome 6
Clinodactyly of the 5th finger, Hypoalbuminemia OMIM:618347
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Micrognathia, Hypoglycemia, Increased serum iron ORPHA:446
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia, Cognitive impairment ORPHA:364
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Fanconi Renotubular Syndrome 3
Bowing of the legs, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria OMIM:615605
Fetal Akinesia Deformation Sequence
Akinesia, Hypokinesia ORPHA:994
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
Neuroferritinopathy
Bradykinesia, Blepharospasm, Resting tremor, Babinski sign, Parkinsonism, Chorea, Difficulty walk... ORPHA:157846
Dystonia-Aphonia Syndrome
Cerebral atrophy, Myoclonus, Abnormal mitochondrial shape, Gait disturbance, Unsteady gait, Cereb... ORPHA:412217
Gaisböck Syndrome
Increased hematocrit, Elevated plasma cell count, Hyperproteinemia, Anxiety, Increased mean corpu... ORPHA:90041
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Apathy, Abnormal retinal vascular morphology, Cognitive impairment, Macular edema, Anxiety, Avasc... ORPHA:247691
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612922
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia... OMIM:157640
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612926
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ataxia, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Neurodegeneration, Atrophy/De... OMIM:612319
Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bradykinesia, Res... OMIM:606324
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Failure to thrive, Abnormal mitochondrial shape ORPHA:543470
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Chylomicron Retention Disease
Retinopathy, Hypocholesterolemia, Acanthocytosis, Steatorrhea ORPHA:71
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Acetabular spurs, Metaphyseal widening, Brachydactyly, Attenuation of retinal blood vessels, Rhiz... OMIM:614376
Parkinson Disease 20, Early-Onset
Bradykinesia, Rigidity, Parkinsonism, Eyelid apraxia, Tremor, Shuffling gait OMIM:615530
Mucopolysaccharidosis-Plus Syndrome
Flared iliac wing, Splenomegaly, Metaphyseal widening, Leukopenia, Chorioretinal hypopigmentation... OMIM:617303
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly, Micrognathia, Postaxial hand polydactyly OMIM:235255
Dopa-Responsive Dystonia
Hypokinesia, Inability to walk, Poor coordination, Parkinsonism, Rigidity, Gait disturbance, Trem... ORPHA:255
Autosomal Dominant Progressive External Ophthalmoplegia
Abnormality of the mitochondrion, Ataxia, Hypokinesia, Bradykinesia, Hypertonia, Hyperthyroidism,... ORPHA:254892
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Parkinsonian-Pyramidal Syndrome
Bradykinesia, Intention tremor, Myoclonus, Babinski sign, Abnormal pyramidal sign, Parkinsonism, ... ORPHA:171695
Glycogen Storage Disease Ixa1
Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology OMIM:618528
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... ORPHA:158048
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocyt... OMIM:611590
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... ORPHA:540
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612925
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... ORPHA:64753
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Abnormality of retinal pigmentation, Talipes e... ORPHA:14
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Cerebral cortical atrophy, Gait disturbance, Tremor, Type I diabetes mellitus, Abnorm... ORPHA:1192
Mpi-Cdg
Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Autosomal Recessive Spastic Paraplegia Type 77
Loss of ambulation, Bradykinesia, Intention tremor, Myoclonus, Babinski sign, Weakness due to upp... ORPHA:466722
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Multiple System Atrophy 1, Susceptibility To
Ataxia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Neurodegeneration, Tremor OMIM:146500
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glycosuria OMIM:614817
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Decreased serum creatinine, Irritability, Hyponatremia OMIM:300539
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Alg12-Cdg
Clinodactyly of the 5th finger, Talipes equinovarus, Micrognathia, Overlapping fingers, Retinal d... ORPHA:79324
Combined Oxidative Phosphorylation Deficiency 37
Chorioretinal hyperpigmentation, Progressive neurologic deterioration, Optic atrophy, Hypoglycemi... OMIM:618329
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Limb hypertonia, Cerebral palsy, Rigidity, Tremor ORPHA:70594
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Elevated circulating creatinine concentration OMIM:607665
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... ORPHA:91547
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia, Clubbing OMIM:614441
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Abnormal mitochondrial shape, Decreased activity of mitochondrial complex IV, ... ORPHA:17
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Splenomegaly, Micrognathia, Hepatosplenomegaly, Postaxial hand pol... ORPHA:1655
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Irritability ORPHA:656
Slc35A2-Cdg
Talipes equinovarus, Increased circulating thyroglobulin level, Short tibia, Aplasia/hypoplasia i... ORPHA:356961
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Irritability, Splenomegaly, Extramedullary hematopoiesis, Anis... ORPHA:231226
C3 Glomerulopathy
Central serous chorioretinopathy, Elevated circulating creatinine concentration, Yellow/white les... ORPHA:329918
Muscular Hypertonia, Lethal
Hypertonia, Hypokinesia OMIM:254120
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Irritability, Splenomegaly, E... ORPHA:231214
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Decreased circulating copper concentration, Palmoplantar keratoderma, Decreased ... OMIM:242150
Gaucher Disease, Perinatal Lethal
Opisthotonus, Akinesia, Hypokinesia OMIM:608013
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Micrognathia, Optic nerve hypoplasia, Proximal placement of th... ORPHA:261250
Friedreich Ataxia
Ataxia, Limb ataxia, Impaired vibratory sensation, Mitochondrial malic enzyme reduced, Babinski s... OMIM:229300
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Clumsiness, Hypokinesia, Tongue fasciculations OMIM:614707
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Triphalangeal thumb, Neutropenia, Short thumb OMIM:612562
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Steatorrhea OMIM:602579
Aicardi-Goutieres Syndrome 9
Self-mutilation, Chorioretinal atrophy, Hepatosplenomegaly, Hemolytic anemia, Optic atrophy, Hypo... OMIM:619487
Spastic Paraplegia 79, Autosomal Recessive
Ataxia, Cerebral atrophy, Dysmetria, Intention tremor, Ankle clonus, Babinski sign, Neurodegenera... OMIM:615491
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Aminoaciduria, Hyperammonemia, Splenomegaly ORPHA:664
Dyschondrosteosis And Nephritis
Ulnar bowing, Short tibia, Radial bowing, Short forearm OMIM:127350
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... ORPHA:1505
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Diabetes mellitus, Insulin resistance, Hypercholesterolemia ORPHA:181393
Avian Influenza
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... ORPHA:454836
Juvenile Polyposis Syndrome
Anemia, Hypokalemia, Hypoalbuminemia, Clubbing OMIM:174900
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Absent thumb, Persistence of hemoglobin F, Microg... ORPHA:124
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy, Hypoglycemia, Progressive neurologic deterioration, Hyperammonemia OMIM:618253
Severe X-Linked Mitochondrial Encephalomyopathy
Hypokinesia, Involuntary movements, Tongue fasciculations ORPHA:238329
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Irritability, Hypoalbuminemia OMIM:613070
Hepatocellular Carcinoma
Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Polycythemia, Emotional lability, Hyp... ORPHA:88673
Cystinosis, Adult Nonnephropathic
Abnormal retinal morphology, Elevated circulating creatinine concentration OMIM:219750
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Ri... OMIM:607060
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... OMIM:609628
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:614251
Coach Syndrome 2
Elevated circulating creatinine concentration, Chorioretinal coloboma OMIM:619111
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating methionine concentration... ORPHA:88618
Parkinson Disease 21
Tremor, Rigidity, Bradykinesia, Parkinsonism OMIM:616361
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine concentration, Mic... OMIM:274150
Pyruvate Dehydrogenase E2 Deficiency
Decreased activity of the pyruvate dehydrogenase complex, Oculomotor apraxia, Ataxia, Choreoathet... OMIM:245348
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Optic atrophy, Hypoglycemia, Cognitive impairment OMIM:614702
Cerebral Creatine Deficiency Syndrome 2
Aggressive behavior, Elevated circulating guanidinoacetic acid concentration, Decreased serum cre... OMIM:612736
Orofaciodigital Syndrome Ix
Retinal coloboma, Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly OMIM:258865
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Kufor-Rakeb Syndrome
Hypertonia, Cerebral cortical atrophy, Bradykinesia, Blepharospasm, Myoclonus, Babinski sign, Abn... ORPHA:306674
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Anemia, Elevated circulating creatine kinase concentration,... OMIM:618838
Pierson Syndrome
Remnants of the hyaloid vascular system, Hypoproteinemia, Retinal detachment, Retinal hemorrhage,... OMIM:609049
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Slowed slurred speech, Bradykinesia OMIM:619827
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Hyperbilirubinemia, Splenomegaly OMIM:607765
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Elevated circulating creatine kinase concentration, Hypoglycemia, Hypoalbuminemia,... OMIM:619055
African Trypanosomiasis
Abnormality of the endocrine system, Akinesia, Abnormal prolactin level, Abnormality of renin-ang... ORPHA:3385
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia ORPHA:6
Wilson Disease
Increased circulating copper concentration, Dementia, Hyperbilirubinemia, Aminoaciduria, Splenome... OMIM:277900
Potocki-Lupski Syndrome
Micrognathia, Hypocholesterolemia OMIM:610883
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Young-Onset Parkinson Disease
Gait imbalance, Bradykinesia, Rigidity, Tremor, Spasticity ORPHA:2828
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Neurodegeneration, Cerebellar atrophy ORPHA:438134
Amoebiasis Due To Entamoeba Histolytica
Anemia, Hypoalbuminemia, Leukocytosis ORPHA:67
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Abnormal circulating selenium concentration, Anxiety, Decreased serum iron, Decreased plasma carn... ORPHA:89842
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Hypocalcemia, Elevated circulating creatine kinase concent... ORPHA:36234
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... OMIM:601559
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine co... ORPHA:230
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Abnormality of the mitochondrion ORPHA:91130
Arthrogryposis Multiplex Congenita 5
Hypertonia, Akinesia, Hand tremor OMIM:618947
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Dpagt1-Cdg
Hypertonia, Akinesia, Ataxia, Inability to walk, Cerebral cortical atrophy, Stereotypical body ro... ORPHA:86309
Congenital Disorder Of Glycosylation, Type Iit
Small hand, Decreased HDL cholesterol concentration, Decreased serum creatinine, Iron deficiency ... OMIM:618885
Congenital Disorder Of Glycosylation, Type Ia
Rod-cone dystrophy, Steatorrhea, Thrombocytosis, Hypocholesterolemia, Hypoalbuminemia OMIM:212065
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia OMIM:617744
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertonia, Action tremor, Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Dysdi... ORPHA:309854
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Increased serum pyruvate, Elevated circulating sebacic acid concentration, Hypogl... OMIM:615160
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypocalcemia, Splenomegaly,... ORPHA:37042
Adult-Onset Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Bradykinesia, Myoclo... ORPHA:199351
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... OMIM:601560
Barth Syndrome
Gait disturbance, Abnormal mitochondrial morphology OMIM:302060
Hsd10 Disease, Infantile Type
Loss of ambulation, Cerebral atrophy, Poor coordination, Spastic diplegia, Hyperkinetic movements... ORPHA:391428
Microphthalmia With Limb Anomalies
Optic atrophy, Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th fin... ORPHA:1106
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Hu... OMIM:251230
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated c... OMIM:608836
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Hyperinsulinemic hypoglycemia, Lympho... OMIM:619991
Multiple Myeloma
Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Anemia ORPHA:29073
Reticular Dysgenesis
Failure to thrive, Weight loss, Decreased circulating antibody level, Abnormality of mitochondria... ORPHA:33355
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Diminished movement, Limb hypertonia, B... OMIM:608643
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Anemia, Thrombocytopenia, Leukocytosis ORPHA:90060
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Hypoalbuminemia ORPHA:367
Senior-Loken Syndrome 1
Anemia, Elevated circulating creatinine concentration, Retinal dystrophy OMIM:266900
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Babinski... OMIM:602433
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Intermediate Nemaline Myopathy
Difficulty walking, Hypokinesia ORPHA:171433
Juvenile Polyposis Of Infancy
Clubbing of fingers, Broad thumb, Midclavicular hypoplasia, Hypoalbuminemia, Refractory anemia, B... ORPHA:79076
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Trichohepatoenteric Syndrome 1
Splenomegaly, Cognitive impairment, Avascular necrosis of the capital femoral epiphysis, Increase... OMIM:222470
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Al Amyloidosis
Anemia, Hypoalbuminemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies ORPHA:85443
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Talipes equinovarus, Small hand, Camptodactyly, Hypoplastic iliac wing, Hypoalbuminemia, Short fo... OMIM:235510
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating tyrosine concentration, Hypoargininemia, Abnormal circulating histidine conc... ORPHA:79096
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, Irritability ORPHA:2089
Galactokinase Deficiency
Hyperinsulinemia, Hepatosplenomegaly, Increased level of galactitol in plasma, Hypergalactosemia,... ORPHA:79237
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Elevated circ... OMIM:210250
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Marburg Hemorrhagic Fever
Hypokalemia, Lymphopenia, Hyperammonemia, Leukopenia, Elevated circulating creatine kinase concen... ORPHA:99826
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Lymphopenia, Secondary hyperaldosteronism, Decreas... ORPHA:90363
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Cerebellar atrophy, Decreased mitochondrial number ORPHA:352447
Neurodegeneration With Brain Iron Accumulation 4
Ataxia, Loss of ambulation, Babinski sign, Parkinsonism, Abnormal pyramidal sign, Neurodegenerati... OMIM:614298
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... OMIM:618278
Xfe Progeroid Syndrome
Optic atrophy, Pes cavus, Attenuation of retinal blood vessels, Hypoalbuminemia OMIM:610965
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Micrognathia, Hypocholesterolemia OMIM:618810
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... ORPHA:552
Femoral-Facial Syndrome
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Mater... ORPHA:1988
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Leukopenia, Hepatosplenomegaly, Optic atrophy, Hypoalbuminem... ORPHA:505248
Apolipoprotein C-Ii Deficiency
Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridemia, Incr... OMIM:207750
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju... ORPHA:90038
Leigh Syndrome With Nephrotic Syndrome