Gene Summary

Name:
amylo-1,6-glucosidase, 4-alpha-glucanotransferase
Synonyms:
9430004C13Rik,  1110061O17Rik,  9630046L06Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased total body fat amount Agltm1b(EUCOMM)Wtsi HOM   Early adult 1.38×10-07
increased circulating alkaline phosphatase level Agltm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased lean body mass Agltm1b(EUCOMM)Wtsi HOM   Early adult 8.49×10-09
cataract Agltm1b(EUCOMM)Wtsi HOM Early adult 6.40×10-14
decreased bone mineral density Agltm1b(EUCOMM)Wtsi HOM   Early adult 4.41×10-06
increased heart weight Agltm1b(EUCOMM)Wtsi HOM   Early adult 5.74×10-10
increased circulating bilirubin level Agltm1b(EUCOMM)Wtsi HOM   Early adult 9.19×10-07
abnormal gait Agltm1b(EUCOMM)Wtsi HOM Early adult 8.93×10-05
increased circulating iron level Agltm1b(EUCOMM)Wtsi HOM   Early adult 0.00
tremors Agltm1b(EUCOMM)Wtsi HET   Early adult 3.37×10-05
preweaning lethality, incomplete penetrance Agltm1b(EUCOMM)Wtsi HOM   Early adult 0.00
impaired glucose tolerance Agltm1b(EUCOMM)Wtsi HOM   Early adult 3.31×10-11
increased fasting circulating glucose level Agltm1b(EUCOMM)Wtsi HOM   Early adult 2.97×10-09
decreased circulating glucose level Agltm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased kidney weight Agltm1b(EUCOMM)Wtsi HOM   Early adult 1.98×10-09
increased circulating cholesterol level Agltm1b(EUCOMM)Wtsi HOM   Early adult 6.10×10-05
decreased bone mineral content Agltm1b(EUCOMM)Wtsi HOM   Early adult 4.61×10-08
increased circulating aspartate transaminase level Agltm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating alanine transaminase level Agltm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating creatine kinase level Agltm1b(EUCOMM)Wtsi HOM   Early adult 2.59×10-05
increased circulating amylase level Agltm1b(EUCOMM)Wtsi HOM   Early adult 1.50×10-06

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Heart  Wholemount images heterozygote 100% (4 of 4)
Kidney  Wholemount images heterozygote 100% (4 of 4)
Testis  Wholemount images heterozygote 50% (2 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Bone N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote 0.0% (0 of 4)
Cerebellum N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote 0.0% (0 of 4)
Hippocampus N/A heterozygote 0.0% (0 of 4)
Hypothalamus N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote 0.0% (0 of 4)
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Prostate gland N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 0.0% (0 of 4)
Spinal cord N/A heterozygote 25% (1 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach N/A heterozygote 0.0% (0 of 4)
Striatum N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
olfactory lobe 0.18% (1 of 553)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Echo

M-Mode Images

36 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Adult LacZ

LacZ Images Wholemount

3 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Agl mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Glycogen Storage Disease Iii
Hepatomegaly, Myopathy, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating crea... OMIM:232400
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypoglycemia, Hypertriglyceridemia ORPHA:366

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Glutathionuria
Tremor OMIM:231950
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Glycogen Storage Disease Iii
Hepatomegaly, Myopathy, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating crea... OMIM:232400
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Autosomal Recessive Spastic Paraplegia Type 71
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401840
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Osteoporosis, Gout, Impaired glucose tolerance, Hypercholest... OMIM:610947
Neonatal Hemochromatosis
Increased serum iron, Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin c... ORPHA:446
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Myoclonus, Tremor OMIM:611092
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Glycogen Storage Disease Vi
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterole... OMIM:232700
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... OMIM:306000
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... OMIM:231100
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Abnormal cir... ORPHA:293964
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... ORPHA:79230
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Hyperam... OMIM:271500
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Developmental cataract, Lack of facial subcutaneous fat, Lo... OMIM:606721
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Myopathy, Increased muscle lipid content, Gowers sign, Proximal muscle weakness, El... OMIM:610717
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Proximal muscle weakness in lower limbs, Gowers sign, Fasting hypoglycemia, Abnormal circulating ... ORPHA:171706
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Proximal muscle weakness, Ragged-red muscle fibers, Type II diabetes mellitu... OMIM:500002
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Elevated transferrin saturation, Splenomega... OMIM:613313
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia OMIM:606664
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content... ORPHA:369
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Ascites, Cirrhosis, Cholestasis, Hepatic failure,... OMIM:617156
Nonaka Myopathy
Gait disturbance, Elevated circulating creatine kinase concentration, EMG: myopathic abnormalitie... OMIM:605820
Multiple Symmetric Lipomatosis
Hepatomegaly, Gait disturbance, Paresthesia, Insulin resistance, Arthralgia ORPHA:2398
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Myopathy, Hypoglycemia, Cardiomegaly, Hyperammo... OMIM:212140
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Maturity-onset d... ORPHA:324575
Mitochondrial Myopathy, Infantile, Transient
Hepatomegaly, Increased muscle lipid content, Muscle fiber hypertrophy, Ragged-red muscle fibers,... OMIM:500009
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized... OMIM:612526
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism OMIM:614203
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Hepatomegaly, Hepatocellular necrosis, Exercise-induced myalgia, Elevated cir... OMIM:201475
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Hyperinsulinemic... ORPHA:276580
Pentosuria
Abnormality of circulating enzyme level, Abnormal urine carbohydrate level, Abnormal circulating ... ORPHA:2843
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus OMIM:616921
Malaria
Acute kidney injury, Elevated circulating C-reactive protein concentration, Gait imbalance, Hyper... ORPHA:673
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Paroxysmal dyskinesia, Chorea OMIM:611031
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:168100
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Progressive cerebellar ataxia, Abnormal pyramidal sign ORPHA:85292
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Frequent falls ORPHA:494526
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
3-Methylglutaconic Aciduria Type 1
Dystonia, Hepatomegaly, Hypoglycemia, Progressive cerebellar ataxia ORPHA:67046
Spinocerebellar Ataxia 43
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia OMIM:617018
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili... OMIM:616278
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Hepatic steatosis, Hypertriglyc... ORPHA:280356
Spinocerebellar Ataxia 37
Tremor, Ataxia, Frequent falls OMIM:615945
Myopathy, Spheroid Body
Proximal amyotrophy, Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Neck flexor wea... OMIM:182920
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Type II diabetes mellitus, Insulin resistance, Failure to thrive, Truncal obesity, ... ORPHA:181393
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, Hemiplegia, Abnormal py... OMIM:614561
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Skeletal muscle atrophy, Portal fibrosis, Hepatic fibrosis, H... ORPHA:370
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Pancreatitis, ... OMIM:619386
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepatic failure, Hypoal... OMIM:602579
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Gait disturbance, Ataxia, Splenomegaly ORPHA:2274
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Gowers sign, Myopathy, Proximal muscle weakness, Elevated circulating creatine kinase concentrati... OMIM:612937
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Gait imbalance, Elevated circulating creatine kinase concentration, Hyperammonemia,... OMIM:618120
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Generalized limb muscle atrophy, Hepatic fibrosis, Progressive cerebellar ataxia, Acute hepatic f... ORPHA:466794
Progressive Myoclonic Epilepsy Type 1
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia ORPHA:308
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hepatomegaly, Muscle weakness, Increased hepatic glycogen content OMIM:261750
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... OMIM:260300
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Distal arthrogryposis, Myopathy, Hypoglycemia, Skeletal muscle atrophy, Proximal mu... ORPHA:42
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Dystonia 27
Postural tremor, Action tremor OMIM:616411
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Pelvic girdle muscle weakness, Fasting hypoglycemia, Skeletal muscle atrophy, Hepat... ORPHA:79240
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Hyperalaninemia, Decreased liver function, Hyperammonemia, Episodic tachypnea, Elev... OMIM:615160
Parkinson Disease 22, Autosomal Dominant
Tremor, Resting tremor, Bradykinesia OMIM:616710
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Rec... ORPHA:276556
Gne Myopathy
Abnormal right hemidiaphragm morphology, Steppage gait, Lower limb amyotrophy, Hip flexor weaknes... ORPHA:602
Rotor Syndrome
Bilirubinuria, Porphyrinuria, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Conjunctival ict... ORPHA:3111
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Proximal muscle weakness, Gait disturbance, Z-band streaming, Elevated circulating creatine kinas... OMIM:618655
Distal Myopathy With Anterior Tibial Onset
Abnormal circulating creatine kinase concentration, Weakness of the intrinsic hand muscles, Tibia... ORPHA:178400
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Myopathy, Abnormal circulating creatine kinase concentration, Chorea, Myalgia, Hepa... ORPHA:369840
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure OMIM:261650
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Ataxia, Hepatic failure, Gait ataxia OMIM:616719
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Respiratory insufficiency due to muscle weakness, Kyphosis, Distal sensory impairment, Foot dorsi... OMIM:617087
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypoglycemia, Hypertriglyceridemia ORPHA:366
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... OMIM:600649
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor ORPHA:2589
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... ORPHA:276575
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Atax... ORPHA:101110
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia OMIM:607250
Alpha-B Crystallin-Related Late-Onset Myopathy
Abnormal circulating creatine kinase concentration, Progressive distal muscle weakness, Autophagi... ORPHA:399058
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Chorea, Benign Familial
Chorea OMIM:215450
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... OMIM:616000
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Elevated circulating aspartat... OMIM:619662
Edinburgh Malformation Syndrome
Failure to thrive, Neonatal hyperbilirubinemia OMIM:129850
Hemochromatosis Type 4
Congenital hepatic fibrosis, Hepatic steatosis, Increased circulating ferritin concentration, Cir... ORPHA:139491
Dihydrolipoamide Dehydrogenase Deficiency
Hepatomegaly, Dystonia, Hypoglycemia, Decreased liver function, Ataxia, Elevated hepatic transami... OMIM:246900
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Decreased liver function, Hypoalbu... ORPHA:79319
Galactokinase Deficiency
Hepatomegaly, Nuclear cataract, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failu... ORPHA:79237
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... OMIM:255120
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Pediatric Hepatocellular Carcinoma
Elevated alpha-fetoprotein, Hepatomegaly, Hepatic necrosis, Hepatic fibrosis ORPHA:33402
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Hyperalaninemia, Left ventricular hy... OMIM:619048
Lichtenstein-Knorr Syndrome
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hyp... OMIM:603471
Myopathy, Distal, 4
Proximal muscle weakness, Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Mildly... OMIM:614065
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia ORPHA:35
Riboflavin Deficiency
Hypoglycemia, Elevated circulating acylcarnitine concentration OMIM:615026
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... OMIM:300718
Myopathy, Tubular Aggregate, 2
Proximal muscle weakness, Elevated circulating creatine kinase concentration, Falls, Generalized ... OMIM:615883
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Hypoglycemia, Ascites, Depletion of mitochondrial DNA in l... OMIM:251880
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Neuronopathy, Distal Hereditary Motor, Type Viii
Nonprogressive muscular atrophy, Hip contracture, Elevated circulating creatine kinase concentrat... OMIM:600175
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Babinski sign, Tremor OMIM:300660
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, C... OMIM:606069
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... OMIM:613027
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Skeletal mus... ORPHA:264580
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Myopathy, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hepat... ORPHA:26792
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Myopathy, Increased muscle lipid content, Ragged-red muscle fibers, Macroglossia, M... ORPHA:254864
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Staphylococcal Necrotizing Pneumonia
Lethargy, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory dist... ORPHA:36238
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract ORPHA:254704
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Gowers sign, Pelvic girdle muscle weakness, Neck flexor weakness, Elevated circulating creatine k... OMIM:254110
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Myopathy, Decreased plasma free carnitine, Hypoketotic hypoglycemia, Elevated circu... ORPHA:228305
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia ORPHA:94124
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, N... OMIM:212138
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Increased adipose tissue, Gait disturbance, Elevated circulating creatine kinase concentration, T... OMIM:617404
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Dystonia, Hypoglycemia OMIM:616113
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia, Increased serum pyruvate OMIM:614741
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Joint hypermobi... OMIM:616222
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Intention tremor OMIM:302500
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Hypoglycemic seizures, Hyperbilirubinemia OMIM:609734
Autosomal Recessive Spastic Paraplegia Type 70
Hand tremor, Progressive spastic paraplegia, Lower limb spasticity ORPHA:401835
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Bone cyst, Insulin resistance, Failure to thrive, Lipo... ORPHA:528
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Hyperisoleucinemia, Hypoglycemia, Hyperammonemia, Ataxia, Elevated plasma branched ... ORPHA:2394
Coach Syndrome 2
Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Elevated circulating creatinine c... OMIM:619111
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Proximal muscle weakness, Elevated circulating creat... OMIM:615895
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Parkinson Disease 19A, Juvenile-Onset
Rigidity, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Parkinsonism OMIM:615528
Hypoglycemia, Leucine-Induced
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Truncal ataxia, Tremor OMIM:616127
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Infantile Sialic Acid Storage Disease
Hepatomegaly, Nephrotic syndrome, Failure to thrive, Cardiomegaly, Splenomegaly, Osteopenia, Conj... OMIM:269920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Proximal amyotrophy, Vertebral fusion, Elevated circulating creatine kinase concentration, Macrog... OMIM:606612
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:600116
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... OMIM:605814
Lipodystrophy, Familial Partial, Type 6
Proximal muscle weakness, Insulin resistance, Abnormal circulating lipid concentration, Elevated ... OMIM:615980
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Increased serum pyruvate, Hyperalaninemia OMIM:266150
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Skeletal muscle atrophy, Elevated hepatic transaminase, Increased LDL cholesterol c... OMIM:616828
Parkinson Disease 21
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:616361
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea OMIM:616939
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Tachypnea, Increased hepatocellula... OMIM:220111
Zebra Body Myopathy
Gowers sign, Proximal muscle weakness, Elevated circulating creatine kinase concentration, Autoph... ORPHA:97240
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Elevated circulating creatine kinase concentration, Decreased movement range in interphalangeal j... OMIM:609115
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:237800
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Increased hepatic echogenicity, Hepatic fi... OMIM:278000
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Dystonia, Hypoglycemia, Elevated hepatic transami... OMIM:256810
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly OMIM:179700
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypoglycemia, Skeletal muscle atrophy, Hepatic failure, Elevated hepatic transamina... ORPHA:156
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:613673
Hepatic Veno-Occlusive Disease
Hepatomegaly, Renal insufficiency, Increased total bilirubin, Increased body weight ORPHA:890
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Generalized muscle... ORPHA:276608
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Avian Influenza
Hepatitis, Fatigue, Respiratory failure, Elevated circulating C-reactive protein concentration, A... ORPHA:454836
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intention tremor, Limb dy... ORPHA:98762
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Spinocerebellar Ataxia 18
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, Gait ataxia OMIM:607317
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Ataxia, Tremor OMIM:617917
Spinocerebellar Ataxia Type 35
Babinski sign, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention tremor, Progressive cere... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Limb ataxia OMIM:615768
Isolated Polycystic Liver Disease
Multiple renal cysts, Hepatomegaly, Increased total bilirubin ORPHA:2924
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia OMIM:615362
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Hepatomegaly, Hypoproteinemia, Hypoketotic hypoglycemia, Pneumonia, Elevated circulatin... ORPHA:26793
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder OMIM:301033
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Restrictive ventilatory defect, Pelvic girdle muscle weakness, Vertebral fusion, Elevated circula... OMIM:607155
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... ORPHA:79262
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Type II diabetes mellitus, Elevated hepatic iron concentration, Splenomegaly, Incre... OMIM:616860
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... ORPHA:314978
Spastic Paraplegia 18, Autosomal Recessive
Gait disturbance, Skeletal muscle atrophy, Kyphosis, Scoliosis, Lower limb muscle weakness OMIM:611225
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Ureteral duplication, Decreased plasma free carnitine, Hydr... OMIM:608836
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Hepatic failure, Hepatic steatosis OMIM:617872
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:613728
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Apneic episodes in infancy, Fasting hypoglycemia, Hypoglycemia, Neonatal hyperbilir... ORPHA:348
Citrullinemia Type Ii
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatoc... ORPHA:247585
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insu... OMIM:608600
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Elevated circulating creatine kinase concentration, Absent muscle dystrophin expression, Abnormal... ORPHA:206546
Bethlem Myopathy 2
Myopathy, Elevated circulating creatine kinase concentration, Kyphosis, Flexion contracture, Incr... OMIM:616471
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Tachypnea, Cough, Arthralgia, Decreased DLCO, Restrictive ventilatory defect, Dyspnea, Elevated c... OMIM:616414
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Small for gestational age, Neonatal hyperbilirubinemia, Failure to thrive, Insulin ... ORPHA:73272
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Elevated circulating creatine kinase concentration, Hepatomegaly, Skeletal muscle atrophy, Muscle... OMIM:615704
Migraine, Familial Hemiplegic, 1
Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Hepatic fibrosis, Cholestasis OMIM:609313
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis OMIM:176090
Myopathy, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, Elevated circulating creatine kinase... OMIM:608358
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Torticollis, Bradykinesia, Cogwheel rigidity, Parkinsonism with f... OMIM:128230
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... OMIM:270500
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis ORPHA:306550
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Elevated circulating alanine aminotransferase concentration, Hepatic bridging fibrosis, Portal in... OMIM:613759
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia, Hepatic failure, Splenomegaly ORPHA:664
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia OMIM:240900
Dystonia 16
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism ORPHA:210571
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly, Neck muscle weakness, Muscle weakness ORPHA:158
Propionic Acidemia
Hepatomegaly, Dystonia, Hypoglycemia, Limb hypertonia, Tachypnea, Apnea, Pancreatitis, Hyperglyci... OMIM:606054
Dystonia 11, Myoclonic
Torticollis, Myoclonus, Tremor OMIM:159900
Hypermethioninemia Due To Adenosine Kinase Deficiency
Failure to thrive, Hyperbilirubinemia, Pulmonic stenosis, Atrial septal defect, Hypermethioninemia OMIM:614300
Morgagni-Stewart-Morel Syndrome
Osteoporosis, Hyperuricemia, Hypercholesterolemia, Hyperostosis frontalis interna, Diabetes melli... ORPHA:77296
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Hepatic steatosis, Elevated hepatic transaminase, Decreased plasma ca... OMIM:201450
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Torticollis, Stereotypy, Action tremor ORPHA:98807
Spinocerebellar Ataxia 23
Babinski sign, Dysmetria, Tremor, Limb ataxia, Gait ataxia OMIM:610245
Liver Failure, Infantile, Transient
Hepatomegaly, Hyperbilirubinemia OMIM:613070
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Ascites, Hyperammonemia, Cirrhosis, Elevated circulating aspartate aminotransferase... OMIM:617049
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myositis, Elevated circulating ... ORPHA:565899
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Dystonia, Methylmalonic acidemia, Hypoglycemia, Elevated hepatic transaminase ORPHA:289504
Dystonia 24
Torticollis, Head tremor, Blepharospasm OMIM:615034
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... ORPHA:247598
Hepatoportal Sclerosis
Hepatocellular carcinoma, Ascites, Hyperbilirubinemia, Nodular regenerative hyperplasia of liver,... ORPHA:64743
Bile Acid Conjugation Defect 1
Hepatomegaly, Conjugated hyperbilirubinemia, Rickets OMIM:619232
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, He... OMIM:261680
Spinocerebellar Ataxia 19
Postural tremor, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia, Truncal ataxia, Lim... OMIM:607346
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Dilated cardiomyopathy, Focal segmental glomerulosclerosis, Ventricular se... OMIM:616730
Galactosemia Ii
Galactosuria, Hypergalactosemia, Cataract OMIM:230200
Citrullinemia Type I
Torticollis, Tachypnea, Hyperammonemia, Ataxia, Hepatic failure, Elevated plasma citrulline, Leth... ORPHA:247525
Infantile Liver Failure Syndrome 2
Lethargy, Hypoglycemia, Hyperammonemia, Acute hepatic failure, Elevated hepatic transaminase, Jau... OMIM:616483
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Ataxia, Apraxia, Spasticity OMIM:615889
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Splenomeg... ORPHA:766
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... OMIM:301310
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Elevated creatine kinase after exer... ORPHA:159
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Double outlet right ventricle, Hyperbilirubinemia, Hyperammonemia, At... ORPHA:1667
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus, Flexion contracture OMIM:618856
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of s... OMIM:151660
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly, Fatigue, Elevated hepatic tra... ORPHA:75563
Retinitis Pigmentosa 89
Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis, Hepatic fibrosis OMIM:618955
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Crackles, Tachypnea, Cough, Elevated carcinoembryonic antigen level, Respiratory distr... ORPHA:264675
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Glucose intolerance, Impaired glucose tolerance, Splenomegaly, Ch... OMIM:615630
Laron Syndrome
Hypoglycemia, Hypoplasia of penis, Truncal obesity, Hypercholesterolemia, Osteoarthritis ORPHA:633
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Type II diabetes mellitus, Abnormal circulating lipid concentration,... ORPHA:225
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Spastic paraplegia OMIM:600363
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations OMIM:615048
Spinocerebellar Ataxia Type 37
Myoclonus, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis, Truncal ataxia ORPHA:363710
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Joint hypermobility, Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Dpm1-Cdg
Hepatomegaly, Hepatic fibrosis, Elevated circulating creatine kinase concentration, Knee flexion ... ORPHA:79322
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Harderoporphyria
Hepatomegaly, Neonatal hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentra... OMIM:618892
Mitochondrial Trifunctional Protein Deficiency
Myopathy, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Generaliz... OMIM:609015
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Tachypnea, Hyperalaninemia, Hyperammonemia, Lethargy OMIM:615751
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Right ven... OMIM:613404
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tremor, Parkinsonism with favo... ORPHA:314632
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Body odor, Hyperglycemia, Tachypnea, Cough, Hyperammonemia, Hyperuric... ORPHA:134
Spinocerebellar Ataxia 40
Dysmetria, Dysdiadochokinesis, Spastic paraparesis, Intention tremor OMIM:616053
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Glycosuria, Ketotic hypoglycemia, Elevated hepatic transaminase, Postprandial hyp... ORPHA:2089
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Macroglossia, Muscle weakness, ... OMIM:251900
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Idiopathic Congenital Hypothyroidism
Lethargy, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Neonatal hyperbilir... ORPHA:95717
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia ORPHA:98763
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Rickets, Hypocholesterolemia, Failure to thrive, Hyperbilirubinemia, Splenomegaly, ... OMIM:607765
Combined Oxidative Phosphorylation Deficiency 10
Dystonia, Hypoglycemia, Hyperalaninemia OMIM:614702
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly OMIM:214900
Tyrosinemia, Type I
Hypertrophic cardiomyopathy, Renal Fanconi syndrome, Hepatomegaly, Hypoglycemia, Elevated urinary... OMIM:276700
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Porphyria Cutanea Tarda
Increased serum iron, Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepa... ORPHA:101330
Autosomal Dominant Spastic Ataxia Type 1
Babinski sign, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia, Tremor, H... ORPHA:251282
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hepatomegaly, Hyperactivity, Ataxia, Hypertriglyceridemia OMIM:615924
Muscular Dystrophy, Limb-Girdle, Type 1H
Proximal muscle weakness, Elevated circulating creatine kinase concentration, Shoulder girdle mus... OMIM:613530
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch... ORPHA:567983
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Ataxia, Type II diabetes mellitus ORPHA:2377
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... ORPHA:263455
Galactosemia Iv
Hypergalactosemia, Cataract OMIM:618881
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia ORPHA:6
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal renal physiology, Hyperbilirubinemia, Splenomegaly, Increased circulating ferritin conce... ORPHA:158057
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Myopathy, Insulin resistance, Cirrhosis, Hepatic steatosis, Hyperactivity, Ataxia, ... ORPHA:363400
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Decreased glomeru... OMIM:232200
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Hypercholesterolemia, Ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia, Gait ataxia OMIM:208920
Congenital Muscular Dystrophy, Ullrich Type
Abnormal muscle fiber morphology, Elevated circulating creatine kinase concentration, Torticollis... ORPHA:75840
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Proximal muscle weakness, Poor head control, Hypoglycemia, Skeletal muscle atrophy,... ORPHA:26791
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failure, Cholestasis... OMIM:618641
Hypermanganesemia With Dystonia 1
Hepatomegaly, Dystonia, Unconjugated hyperbilirubinemia, Steppage gait, Bradykinesia, Hypermangan... OMIM:613280
Congenital Bile Acid Synthesis Defect Type 2
Hepatomegaly, Abnormal serum bile acid concentration, Rickets, Failure to thrive, Renal cyst, Hyp... ORPHA:79303
Behr Syndrome
Progressive spasticity, Babinski sign, Dysmetria, Tremor, Ataxia OMIM:210000
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Elevated circulating creatine kinase concentration, Inte... OMIM:618138
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Macroglossia, Ataxia, Cholestasis OMIM:266920
Acute Lung Injury
Hypoxemia, Increased circulating surfactant protein level, Pneumonia, Tachypnea, Respiratory dist... ORPHA:178320
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Hyperalaninemia, Hyperprolinemia, Neonatal hypoglycemia, Splenomegaly, Muscle weakness, Ataxia, I... OMIM:619046
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Right ven... OMIM:208085
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Hypoglycemia OMIM:610090
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Hand tremor, Myoclonus, Vocal tremor, Upper limb postural tremor, Blepharospasm ORPHA:420485
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... OMIM:602088
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Elevated circulating long chain fatty acid concentration, Double outle... OMIM:614886
Caroli Disease
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelithiasis, Splenom... ORPHA:53035
Spinocerebellar Ataxia 12
Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head tremor, Parkins... OMIM:604326
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Abnormal circulating a... ORPHA:71212
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98863
3-Hydroxy-3-Methylglutaric Aciduria
Lethargy, Hepatomegaly, Lipid accumulation in hepatocytes, Tachypnea, Apnea, Hyperammonemia, Recu... ORPHA:20
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal circ... ORPHA:567548
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Blepharospasm, Tremor OMIM:224500
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Donohue Syndrome
Fasting hypoglycemia, Skeletal muscle atrophy, Hepatic fibrosis, Hyperglycemia, Pancreatic islet-... OMIM:246200
Atypical Rett Syndrome
Dystonia, Gait disturbance, Sudden episodic apnea, Abnormal pattern of respiration, Impaired pain... ORPHA:3095
Neutral Lipid Storage Myopathy
Pelvic girdle muscle weakness, Generalized limb muscle atrophy, Increased intramyocellular lipid ... ORPHA:98908
X-Linked Parkinsonism-Spasticity Syndrome
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... ORPHA:363654
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Decreased glomeru... OMIM:232220
Autosomal Dominant Spastic Paraplegia Type 29
Hernia, Hiatus hernia, Hyperbilirubinemia, Abnormality of the lower urinary tract ORPHA:101009
Spinocerebellar Ataxia 15
Postural tremor, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia OMIM:606658
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98855
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:605909
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Dystonia, Gait imbalance, Urinary bladder sphincter dysfunction, Elevated circulating creatine ki... ORPHA:64753
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Fulminant hepatitis, Fatigue, Type I diabetes mellitus, Hepatic failure, Elevated h... OMIM:618549
Lipoyltransferase 1 Deficiency
Dystonia, Increased total bilirubin OMIM:616299
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Increased total bilirubin OMIM:618528
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Action tremor ORPHA:464440
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Limb ataxia, Gait ataxia OMIM:213200
Abetalipoproteinemia
Keratoconjunctivitis sicca, Hepatomegaly, Decreased HDL cholesterol concentration, Hypocholestero... ORPHA:14
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Multiple Carboxylase Deficiency
Limb muscle weakness, Tachypnea, Hyperammonemia, Ataxia, Respiratory distress, Lethargy ORPHA:148
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Distal upper limb amyotrophy, Kyphosis, Distal lower l... ORPHA:101075
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Rickets, Failure to thrive, Osteopenia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:211600
Hodgkin Lymphoma
Hepatomegaly, Cough, Splenomegaly, Ataxia, Fatigue, Dyspnea, Bone pain, Chest pain ORPHA:98293
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Progressive external ophthalmoplegia, Elevated circulating creatine kinas... OMIM:617713
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Osteopetrosis, Hyperbilirubinemia, Stillbirth, Splenomegaly, Absence of renal corti... OMIM:259720
Encephalopathy, Recurrent, Of Childhood
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal ataxia OMIM:130950
Acute Interstitial Pneumonia
Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Elevated circulating creatinine concentration, My... ORPHA:79126
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... ORPHA:98853
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Sandhoff Disease
Hepatomegaly, Ataxia, Kyphosis, Splenomegaly ORPHA:796
Corticobasal Syndrome
Involuntary movements, Oromotor apraxia, Limb myoclonus, Limb apraxia, Myoclonus, Bradykinesia, S... ORPHA:454887
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Myopathy, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis OMIM:618234
Hypermanganesemia With Dystonia 2
Babinski sign, Bradykinesia, Tremor, Ankle clonus, Spasticity, Parkinsonism OMIM:617013
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased L... OMIM:267700
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism OMIM:612953
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus OMIM:614018
Bethlem Myopathy
Reduced maximal expiratory pressure, Generalized amyotrophy, Quadriceps muscle weakness, Camptoda... ORPHA:610
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Acute hepatic steatosis, Hypoglycemia, Lethargy OMIM:210200
Acyl-Coa Dehydrogenase 9 Deficiency
Myopathy, EMG: myopathic abnormalities, Generalized muscle weakness, Elevated creatine kinase aft... ORPHA:99901
Myofibrillar Myopathy 10
Ankle flexion contracture, Elevated circulating creatine kinase concentration, EMG: myopathic abn... OMIM:619040
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Skeletal myopathy, Progressive distal muscle weakness, Generalized musc... ORPHA:746
Pyruvate Carboxylase Deficiency
Hepatomegaly, Dystonia, Hypoglycemia, Hypernatremia, Neonatal hyperbilirubinemia, Hyperglycemia, ... ORPHA:3008
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Hypoglycemia, Cardiomegaly OMIM:618838
Bachmann-Bupp Syndrome
Attention deficit hyperactivity disorder, Hypoglycemia, Hyperbilirubinemia, Large for gestational... OMIM:619075
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Decreased serum zinc, Hepatic steatosis, Hepatosplenomegaly, Cholestasis, Hepat... ORPHA:541423