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Gene: Agl MGI:1924809

Gene Summary

Name:

amylo-1,6-glucosidase, 4-alpha-glucanotransferase

Synonyms:

9430004C13Rik, 1110061O17Rik, 9630046L06Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
increased circulating alkaline phosphatase level	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
preweaning lethality, incomplete penetrance	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased circulating glucose level	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased lean body mass	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.49×10^-09
decreased total body fat amount	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.38×10^-07
increased circulating aspartate transaminase level	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating amylase level	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.43×10^-06
increased kidney weight	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.94×10^-09
decreased bone mineral density	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	4.41×10^-06
increased circulating cholesterol level	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	6.10×10^-05
tremors	Agl^{tm1b(EUCOMM)Wtsi}	HET	Early adult	2.97×10^-05
cataract	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.85×10^-14
decreased bone mineral content	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.12×10^-09
increased circulating alanine transaminase level	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating creatine kinase level	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.59×10^-05
abnormal gait	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.75×10^-05
increased fasting circulating glucose level	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.97×10^-09
impaired glucose tolerance	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.31×10^-11
increased heart weight	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.75×10^-10
increased circulating bilirubin level	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.64×10^-07
increased circulating iron level	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00

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
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)
Heart	N/A	heterozygote	100% (4 of 4)
Hippocampus	N/A	heterozygote	0.0% (0 of 4)
Hypothalamus	N/A	heterozygote	0.0% (0 of 4)
Kidney	N/A	heterozygote	100% (4 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)
Testis	N/A	heterozygote	50% (2 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	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
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.

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Echo

M-Mode Images

36 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Adult LacZ

LacZ Images Wholemount

3 Images

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Auditory Brain Stem Response

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

8 Images

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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.

Human diseases associated with Agl (2 diseases)
Human diseases predicted to be associated with Agl (1589 diseases)

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		Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Hyp...	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	Matching phenotypes	Source
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Tremor, Hereditary Essential, 1	Postural tremor, Action tremor, Hand tremor	OMIM:190300
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity	OMIM:619491
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical...	ORPHA:98769
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro...	ORPHA:464440
Tremor, Hereditary Essential, 5	Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor	OMIM:616736
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Episodic Kinesigenic Dyskinesia 2	Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea	OMIM:611031
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Episodic Ataxia With Slurred Speech	Gait ataxia, Tremor, Slurred speech	ORPHA:401953
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Hyp...	OMIM:232400
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Tremor, Hereditary Essential, 6	Kinetic tremor, Postural tremor, Head tremor, Vocal tremor	OMIM:618866
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Autosomal Recessive Spastic Paraplegia Type 71	Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait	ORPHA:401840
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:607688
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Tremor, Hereditary Essential, 2	Upper limb postural tremor, Kinetic tremor	OMIM:602134
Intellectual Developmental Disorder, Autosomal Recessive 6	Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor	OMIM:611092
Neonatal Hemochromatosis	Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat...	ORPHA:446
Tremor Of Intention, Ataxia, And Lipofuscinosis	Intention tremor, Ataxia	OMIM:190200
Episodic Kinesigenic Dyskinesia 3	Dystonia, Involuntary movements, Choreoathetosis, Torticollis	OMIM:620245
Parkinsonism With Spasticity, X-Linked	Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia	OMIM:300911
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hypoglycemia, Hepato...	OMIM:231100
Dystonia 22, Adult-Onset	Upper limb postural tremor, Retrocollis, Babinski sign, Torticollis, Focal dystonia	OMIM:620456
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Glycogen Storage Disease Vi	Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri...	OMIM:232700
Hjv Or Hamp-Related Hemochromatosis	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	ORPHA:79230
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ...	ORPHA:79299
Glycogen Storage Disease Ixd	Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Hypoglycemia, Lower limb ...	OMIM:300559
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Skeletal muscle atrophy, Limb ataxi...	OMIM:616719
Spinocerebellar Ataxia, X-Linked 5	Action tremor, Ataxia	OMIM:300703
Episodic Ataxia, Type 8	Ataxia, Slurred speech, Intention tremor, Episodic ataxia	OMIM:616055
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ...	OMIM:614561
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoketotic hypoglycemia, Increased hepatic glycogen content, Nonketotic hypoglycemia, Hypoglycem...	ORPHA:293964
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ...	ORPHA:263458
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog...	ORPHA:369
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia	OMIM:606664
Dystonia 24	Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia	OMIM:615034
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Dystonia 11, Myoclonic	Myoclonus, Writer's cramp, Tremor, Torticollis	OMIM:159900
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Hypercholesterolemia, Diabetes mellitus	OMIM:608320
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Spinocerebellar Ataxia 40	Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In...	OMIM:616053
Glycogen Storage Disease Ixb	Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Incr...	OMIM:261750
Spinocerebellar Ataxia Type 31	Spasticity, Gait ataxia, Tremor	ORPHA:217012
Mitochondrial Myopathy, Infantile, Transient	Decreased circulating carnitine concentration, Neck muscle weakness, Ragged-red muscle fibers, In...	OMIM:500009
Multiple Symmetric Lipomatosis	Insulin resistance, Paresthesia, Arthralgia, Gait disturbance, Hepatomegaly	ORPHA:2398
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Reduced subcutan...	OMIM:612526
X-Linked Spinocerebellar Ataxia Type 4	Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	ORPHA:85292
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Hypoglycemia, Progressive cerebellar ataxia	ORPHA:67046
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Dystonia, Myoclonus, Tremor, Frequent falls	OMIM:619647
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:609016
Spinocerebellar Ataxia 37	Frequent falls, Tremor, Ataxia	OMIM:615945
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus	OMIM:616921
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypogl...	ORPHA:324575
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor	OMIM:611808
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab...	OMIM:606324
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Proximal muscle weakness in lower limbs, Abnormal circulating selenium concentration, Distal lowe...	ORPHA:171706
Malaria	Elevated circulating C-reactive protein concentration, Acute kidney injury, Hyperbilirubinemia, G...	ORPHA:673
Spinocerebellar Ataxia 43	Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia	OMIM:617018
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Spasticity, Tremor, Ataxia	OMIM:611105
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Frequent falls, Hemiballismus, Tremor	ORPHA:494526
Hypercholanemia, Familial, 2	Unconjugated hyperbilirubinemia, Osteopenia, Increased serum bile acid concentration	OMIM:619256
Chorea, Benign Familial	Chorea	OMIM:215450
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig...	ORPHA:101110
Parkinson Disease 17	Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Exer...	OMIM:201475
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul...	ORPHA:276580
Progressive Myoclonic Epilepsy Type 1	Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor	ORPHA:308
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile...	OMIM:619868
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Atrial septal defect, Hypog...	OMIM:620211
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con...	OMIM:619874
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Gait disturbance, Splenomegaly, Ataxia	ORPHA:2274
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T...	ORPHA:99657
Spastic Paraparesis And Deafness	Spastic paraparesis, Tremor	OMIM:312910
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Hepatic fibrosis, Generalized limb muscle atrophy, Acute hepatic failure, Hepatosplenomegaly, Gai...	ORPHA:466794
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat...	OMIM:615703
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615158
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Hyperbilirubinemia	OMIM:618660
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Recu...	OMIM:620357
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Calf muscle hypertrophy, Hypertriglyceride...	ORPHA:280356
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia	ORPHA:2589
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Decreased liver...	ORPHA:42
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia	ORPHA:309169
Dystonia 23	Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Torticollis, Writer's cramp	OMIM:614860
Cholestasis, Progressive Familial Intrahepatic, 12	Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinuria, Hepatomeg...	OMIM:620010
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Hyperammonemia...	OMIM:600649
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ...	OMIM:612937
Rotor Syndrome	Conjunctival icterus, Bilirubinuria, Hyperbilirubinemia, Porphyrinuria, Conjugated hyperbilirubin...	ORPHA:3111
Intellectual Developmental Disorder, Autosomal Recessive 14	Intention tremor	OMIM:614020
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Hep...	OMIM:619386
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Tremor	OMIM:264070
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen...	OMIM:615160
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ...	OMIM:246900
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy, Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or...	ORPHA:420485
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ankle flexion contracture, Hypoglycemia, Gait imbalance, Hyperammonemia, Rhabdomyolysis, Elevated...	OMIM:618120
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Skeletal muscle atroph...	ORPHA:79240
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypoketotic ...	ORPHA:276556
Galactokinase Deficiency	Cataract, Nuclear cataract, Small for gestational age, Failure to thrive, Hypoglycemia, Hyperinsu...	ORPHA:79237
Dystonia 16	Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia	ORPHA:210571
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al...	ORPHA:33402
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul...	ORPHA:276575
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Recurrent hypoglycemia, Elevated circulating aspar...	OMIM:212140
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia	OMIM:261650
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst...	OMIM:128230
Intellectual Developmental Disorder, Autosomal Dominant 69	Intention tremor	OMIM:617863
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Muscular...	ORPHA:369840
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Proximal muscle weakness in lower limbs, Broad-based gait, Tip-toe gait, Postexertional symptom e...	OMIM:615290
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Torsion dystonia, Tremor, Torticollis	OMIM:224500
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Chorea, Childhood-Onset, With Psychomotor Retardation	Involuntary movements, Chorea	OMIM:616939
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia	OMIM:605909
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Calf muscle pseudohyp...	OMIM:608358
Spinocerebellar Ataxia 38	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia	OMIM:615957
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, Portal hypertension, Hyperinsulinemi...	ORPHA:79319
Propionic Acidemia	Hepatomegaly, Hyperammonemia, Hypoglycemia	ORPHA:35
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Decreased circulating carnitine concentration, Abnormality of the liver, Ragged-red muscle fibers...	ORPHA:254864
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia, Failure to thrive	OMIM:129850
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal amyotrophy, Arthrogryposis multiplex congenita, Elbow flexion contracture, Nonprogressive ...	OMIM:600175
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp...	OMIM:603471
Epilepsy, Progressive Myoclonic 7	Myoclonus, Tremor, Ataxia	OMIM:616187
Spinocerebellar Ataxia Type 38	Gait ataxia, Tremor	ORPHA:423296
Dystonia 7, Torsion	Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu...	OMIM:602124
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Fanconi-Bickel Syndrome	Hypouricemia, Osteomalacia, Hyperbilirubinemia, Reduced subcutaneous adipose tissue, Increased se...	OMIM:227810
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decreased plasma fre...	OMIM:619048
Crigler-Najjar Syndrome Type 2	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
Isolated Growth Hormone Deficiency, Type Ia	Prolonged neonatal jaundice, Hypoglycemia	OMIM:262400
Glycogen Storage Disease Ixa1	Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly	OMIM:306000
Paroxysmal Kinesigenic Dyskinesia	Involuntary movements, Chorea, Writer's cramp, Dystonia, Athetosis	ORPHA:98809
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ...	OMIM:611302
Hyperlipoproteinemia, Type Ii, And Deafness	Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia	ORPHA:94124
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Lower limb muscle weakness, Inability to walk, Gait disturbance, Joint c...	OMIM:611225
Pyruvate Carboxylase Deficiency	Athetosis, Hypoglycemia, Hyperalaninemia, Hepatomegaly, Increased serum pyruvate	OMIM:266150
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Gout, Hy...	OMIM:610947
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig...	OMIM:607317
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Skele...	ORPHA:264580
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Arthralgia,...	OMIM:606069
Pyruvate Dehydrogenase E3 Deficiency	Elevated circulating branched chain amino acid concentration, Hepatic failure, Elevated circulati...	ORPHA:2394
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Spinocerebellar Ataxia 12	Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress...	OMIM:604326
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia	OMIM:607250
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he...	OMIM:613027
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Epilepsy, Familial Adult Myoclonic, 4	Myoclonus, Tremor	OMIM:615127
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Hypoglycemia, Elevated circulating creatinine concentration, Hepatic steatosis, ...	OMIM:617872
Congenital Generalized Lipodystrophy	Insulin resistance, Failure to thrive, Hypertrophic cardiomyopathy, Hyperinsulinemia, Bone cyst, ...	ORPHA:528
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Increased serum pyruvate, Hypoglycemia	OMIM:614741
Spinocerebellar Ataxia Type 28	Spasticity, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia, Babinski si...	ORPHA:101109
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Hyperam...	OMIM:212138
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration	ORPHA:254704
Infantile Sialic Acid Storage Disease	Osteopenia, Failure to thrive, Splenomegaly, Cardiomegaly, Hepatomegaly, Nephrotic syndrome, Conj...	OMIM:269920
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re...	OMIM:300718
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Coach Syndrome 2	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Eleva...	OMIM:619111
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Autosomal Recessive Spastic Paraplegia Type 70	Lower limb spasticity, Progressive spastic paraplegia, Hand tremor	ORPHA:401835
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Limb-girdle muscular dystrophy, Lower limb muscle weakness, Elevated circulating creatine kinase ...	OMIM:616052
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Tip-toe gait, Elevated circulating creatine kinase concentration, Proximal amyotrophy, Gait distu...	OMIM:617404
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Micropenis, Neonatal hyperbilirubinemia, Small for gestational age, Ataxia	ORPHA:3363
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79234
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia	OMIM:240800
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic steatosis, Myopathy, Ketotic hypoglycem...	ORPHA:26792
Spinocerebellar Ataxia 18	Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis	OMIM:607458
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:620482
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax...	ORPHA:454887
Hepatic Veno-Occlusive Disease	Hepatomegaly, Increased body weight, Renal insufficiency, Increased total bilirubin	ORPHA:890
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa...	OMIM:278000
Spinocerebellar Ataxia Type 12	Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida...	ORPHA:98762
X-Linked Non Progressive Cerebellar Ataxia	Action tremor, Clumsiness, Truncal ataxia, Nonprogressive cerebellar ataxia, Spastic dysarthria, ...	ORPHA:314978
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Galactosemia Iv	Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia	OMIM:618881
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla...	ORPHA:276608
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia	OMIM:615768
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a...	ORPHA:2457
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl...	ORPHA:314632
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Migraine, Familial Hemiplegic, 1	Ataxia, Hemiplegia, Tremor, Hemiparesis	OMIM:141500
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:237800
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Cirrhosis, Hyperinsulinemic hypoglycemia, Hep...	OMIM:602579
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Splenomegaly	OMIM:179700
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy...	ORPHA:156
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal...	ORPHA:79262
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Myopathy, Elevated circulating creatine kinase co...	OMIM:616471
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Myoclonus, Tremor	OMIM:615400
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia	OMIM:615924
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Decreased movement range in interphalangeal joints, Cataract, Elevated circulating creatine kinas...	OMIM:609115
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Cataract, Elevated circulating creati...	OMIM:608836
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Type II diabetes mellitus, Sple...	OMIM:616860
Isolated Polycystic Liver Disease	Hepatomegaly, Multiple renal cysts, Increased total bilirubin	ORPHA:2924
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis	OMIM:176090
Morgagni-Stewart-Morel Syndrome	Obesity, Hyperuricemia, Hypercholesterolemia, Osteoarthritis, Osteoporosis, Diabetes mellitus, Hy...	ORPHA:77296
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Lower limb muscle weakness, Elevated circulating aspartate aminotransferase concent...	OMIM:617950
Dystonia 12	Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia	OMIM:128235
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Hypoglycem...	OMIM:617093
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Lipodystrophy, Familial Partial, Type 1	Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Insulin-...	OMIM:608600
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Dystonia 28, Childhood-Onset	Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Torticolli...	OMIM:617284
Hijazi-Reis Syndrome	Gait disturbance, Hyperbilirubinemia, Iris coloboma, Astigmatism	OMIM:301094
Systemic Primary Carnitine Deficiency	Hepatomegaly, Neck muscle weakness, Elevated circulating hepatic transaminase concentration, Musc...	ORPHA:158
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ...	ORPHA:216873
Retinitis Pigmentosa 89	Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis	OMIM:618955
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low plasma citr...	OMIM:261680
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased urinary glycerol, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthr...	ORPHA:247598
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Hepatic bridging fibrosis, Portal inflammation, Elevated circulating alanine aminotransferase con...	OMIM:613759
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:26793
Short Stature Due To Ghsr Deficiency	Hypoglycemia	ORPHA:314811
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower limb spasticity, Hy...	ORPHA:251282
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Hyperglycemia, Hyp...	OMIM:248370
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula...	ORPHA:64743
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Scissor gait, Oroman...	ORPHA:521406
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a...	OMIM:151660
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Hepatosplenomegaly, Type I diabetes mellitus	OMIM:619858
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Urocanase Deficiency	Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia	OMIM:276880
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations	OMIM:615048
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac...	OMIM:620386
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Failure to thrive, Renal tubular acidos...	OMIM:613404
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Limb ataxia, Gait ataxia, Elevated circulating creatine kinase concentration, Lo...	OMIM:208920
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Hepatic failure, Splenomegaly, Hypoglycemia	ORPHA:664
Dpm1-Cdg	Hepatic fibrosis, Muscular dystrophy, Elevated circulating hepatic transaminase concentration, He...	ORPHA:79322
Propionic Acidemia	Hypoglycemia, Apnea, Hyperglycinemia, Hyperammonemia, Tachypnea, Pancreatitis, Limb hypertonia, H...	OMIM:606054
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Parkinsonism, Bradykinesia, Resting tremor, Rigidity	OMIM:614251
Wolcott-Rallison Syndrome	Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Chronic kidney disease, Difficulty...	ORPHA:1667
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young, Joint hypermobility	ORPHA:254531
Infantile Liver Failure Syndrome 2	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp...	OMIM:616483
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Hypoglycemia, Ascites, Elevated circulating aspartate aminotransferase concentra...	OMIM:617049
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst, Increased total bilirubin	OMIM:174050
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem...	OMIM:613135
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl...	ORPHA:411593
Spinocerebellar Ataxia Type 37	Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis	ORPHA:363710
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:159
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Secundum atrial...	OMIM:614300
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Dilated c...	OMIM:616730
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:240900
Bile Acid Conjugation Defect 1	Hepatomegaly, Conjugated hyperbilirubinemia, Rickets	OMIM:619232
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:247585
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Glucose intolerance, Splenomegaly, Hepatomegaly, ...	OMIM:615630
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Lower limb amyotrophy, ...	OMIM:617087
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait	OMIM:600363
Iron Overload, Susceptibility To	Increased circulating ferritin concentration, Type II diabetes mellitus, Elevated hepatic iron co...	OMIM:620121
Spinocerebellar Ataxia Type 14	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia	ORPHA:98763
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Bradyk...	OMIM:213600
Diabetes Mellitus, Permanent Neonatal, 2	Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level, Flexion contracture	OMIM:618856
Galactosemia Ii	Galactosuria, Hypergalactosemia, Cataract	OMIM:230200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Difficulty walking, Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, Tip-...	OMIM:606612
Laron Syndrome	Hypoglycemia, Hypercholesterolemia, Truncal obesity, Osteoarthritis, Hypoplasia of penis	ORPHA:633
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg...	ORPHA:766
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Temple Syndrome	Maturity-onset diabetes of the young, Obesity, Joint hypermobility, Hypercholesterolemia, Truncal...	OMIM:616222
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi...	ORPHA:348
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr...	OMIM:201450
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Hypoglycemia, Xanthelasma, Decreased glomerular filtration ra...	OMIM:232200
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	OMIM:609015
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Dystonia, Myoclonus, Tremor	OMIM:619651
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lethargy, Hypoglycemia	OMIM:615026
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Dysmetria, Ataxia	OMIM:617917
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Muscular dystrophy, Skeletal muscle atrophy, Abnormal circulating lipid conce...	OMIM:615980
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Skeletal muscle atroph...	OMIM:615895
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi...	ORPHA:240103
Laurence-Moon Syndrome	Type II diabetes mellitus, Congenital hepatic fibrosis, Ataxia	ORPHA:2377
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d...	OMIM:606703
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ...	ORPHA:2089
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Joint contracture, H...	OMIM:615704
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia	ORPHA:324588
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp...	OMIM:618892
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	ORPHA:26791
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia	OMIM:214900
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi...	ORPHA:35878
Beta-Ketothiolase Deficiency	Hypoglycemia, Hyperglycemia, Body odor, Hyperammonemia, Hyperuricemia, Tachypnea, Ataxia, Hepatom...	ORPHA:134
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Unsteady gait, Hypoglycemia	OMIM:610090
Lipoyltransferase 1 Deficiency	Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia, Lacticaciduria, Alaninuria, Hyperg...	OMIM:616299
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Limb dystonia, Gait ataxia, Parkinsonism, Craniofacial dystonia, Torticollis, Bra...	ORPHA:71517
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Failure to thrive, Hyperbilirubinemia, Dark urine, Abnormal serum bile acid concentratio...	ORPHA:79303
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Hyperammonemia, Hypoglycemia	ORPHA:6
Citrullinemia Type I	Hepatic failure, Hyperammonemia, Tachypnea, Torticollis, Ataxia, Elevated plasma citrulline	ORPHA:247525
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi...	OMIM:605814
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis	OMIM:213010
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Truncal obesity...	ORPHA:73272
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, EMG:...	OMIM:253601
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ...	ORPHA:363654
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Hyperprolinemia, Increased serum pyruvate, Hyperalaninemia, Ataxia, Neonatal hypogl...	OMIM:619046
Parkinson Disease 19A, Juvenile-Onset	Spasticity, Pill-rolling tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Limb ...	OMIM:615528
Spinocerebellar Ataxia 48	Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Dystonia	OMIM:618093
Hyperlipidemia, Familial Combined, 3	Increased LDL cholesterol concentration, Xanthelasma, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:618138
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Macroglossia, Muscular dystrophy, Tip-toe gait, Shoulder girdle muscle weakness, Difficulty walki...	OMIM:607155
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid...	ORPHA:567548
Dystonia 16	Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ...	OMIM:612067
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:71212
Spinocerebellar Ataxia 50	Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia	OMIM:620158
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Urinary bladder sphincter dysfunction, Gait imbalance, Elevated circulating crea...	ORPHA:64753
Sandhoff Disease	Hepatomegaly, Kyphosis, Splenomegaly, Ataxia	ORPHA:796
Avian Influenza	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatitis, Respiratory ...	ORPHA:454836
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Pancreatitis, Hyperammonemia, Hypoglycemia	OMIM:620137
Neutral Lipid Storage Myopathy	Difficulty walking, Neck muscle weakness, Hepatic steatosis, Myopathy, Hepatomegaly, Gowers sign,...	ORPHA:98908
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Epilepsy, Familial Adult Myoclonic, 3	Myoclonus, Tremor	OMIM:613608
Epilepsy, Familial Adult Myoclonic, 1	Tremor	OMIM:601068
Spinocerebellar Ataxia 23	Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign	OMIM:610245
3-Hydroxy-3-Methylglutaric Aciduria	Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia, Apnea, Hyperammo...	ORPHA:20
X-Linked Charcot-Marie-Tooth Disease Type 1	Impaired pain sensation, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Gait disturb...	ORPHA:101075
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Autosomal Dominant Spastic Paraplegia Type 29	Hiatus hernia, Hyperbilirubinemia, Hernia, Abnormality of the lower urinary tract	ORPHA:101009
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly	ORPHA:75563
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia	OMIM:606658
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia, Finger joint contracture, Chorea, Paresthesia, Dysmetria, Abnormality of the cervic...	ORPHA:48431
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegal...	ORPHA:158057
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Failure to thrive, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia	OMIM:211600
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom...	OMIM:619902
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypoketoti...	ORPHA:263455
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Gait disturbance, Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Ataxia, Failure to thrive, Increased circulating ferritin concentration, Increas...	OMIM:267700
Parkinsonism With Polyneuropathy	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:619279
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Met...	ORPHA:289504
Donohue Syndrome	Postprandial hyperglycemia, Hepatic fibrosis, Skeletal muscle atrophy, Cholestasis, Hyperglycemia...	OMIM:246200
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:98855
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ...	OMIM:618858
Spinocerebellar Ataxia 7	Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig...	OMIM:164500
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Senior-Loken Syndrome	Congenital hepatic fibrosis, Ataxia	ORPHA:3156
Atypical Rett Syndrome	Coldness, Impaired pain sensation, Inability to walk, Episodic tachypnea, Gait ataxia, Loss of am...	ORPHA:3095
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia	OMIM:615362
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Failure to thrive, Hypocholesterolemia, Splenomegaly, Hepatomegaly, Steatorrhea, Conjuga...	OMIM:607765
Abetalipoproteinemia	Hypoalbuminemia, Osteopenia, Broad-based gait, Hypotriglyceridemia, Ataxia, Failure to thrive, Hy...	ORPHA:14
Dysbetalipoproteinemia	Corneal arcus, Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemi...	ORPHA:412
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitu...	OMIM:618549
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypercholesterolemia, Splenomegaly, Hypertriglyceridemia	ORPHA:75234
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea, Maternal diabetes	ORPHA:45452
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig...	OMIM:600116
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus, Decreased HDL cholesterol concentration	OMIM:618463
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hypoglycemia, Hyperglycinemia, Hyperammonemia, Lethargy, Pancreatitis, Hepatomegaly, Muscle weakn...	OMIM:251000
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Umbilical hernia	ORPHA:95717
Bile Acid Malabsorption, Primary, 2	Periportal fibrosis, Decreased circulating chenodeoxycholic acid concentration, Elevated circulat...	OMIM:619481
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Hyperglycinemia, Tachypnea, Ataxia, Hepatomegaly	OMIM:614299
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Craniosynostosis, Obesity, Cardiomegaly	ORPHA:88643
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia, Umbilical hernia	ORPHA:95715
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Muscle weakness, Hypoglycemia	OMIM:616111
Parkinson-Dementia Syndrome	Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity	OMIM:260540
Abdominal Obesity-Metabolic Syndrome 3	Coronary artery stenosis, Hyperglycemia, Increased LDL cholesterol concentration, Type II diabete...	OMIM:615812
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Abnormal circulating creatine kinase concentrat...	OMIM:615838
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:618838
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Focal pancreatic islet hyperplasia,...	ORPHA:79644
X-Linked Dystonia-Parkinsonism	Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion...	ORPHA:53351
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hyperbilirubinemia, Abnormal cortical bone morphology, Renal tubular dysfunction, Decreased body ...	OMIM:614886
Mody	Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Glyc...	ORPHA:552
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Developmental And Epileptic Encephalopathy 32	Myoclonus, Tremor, Ataxia	OMIM:616366
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Tremor	OMIM:190310
Staphylococcal Necrotizing Pneumonia	Shivering, Respiratory distress, Chest pain, Gangrene, Tachypnea, Elevated circulating C-reactive...	ORPHA:36238
Hsd10 Mitochondrial Disease	Choreoathetosis, Hypoglycemia, Elevated circulating tiglylglycine concentration	OMIM:300438
Glycogen Storage Disease Vii	Increased total bilirubin, Exercise-induced myoglobinuria, Gout, Hyperuricemia, Elevated circulat...	OMIM:232800
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Difficulty walking, Neck muscle weakness...	OMIM:610717
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Parkinson Disease 22, Autosomal Dominant	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:616710
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Hypoglycemia, Xanthelasma, Decreased glomerular filtration ra...	OMIM:232220
Becker Muscular Dystrophy	Exercise intolerance, Elevated circulating hepatic transaminase concentration, Skeletal muscle at...	ORPHA:98895
9Q31.1Q31.3 Microdeletion Syndrome	Dilated cardiomyopathy, Type II diabetes mellitus, Renovascular hypertension, Bicuspid aortic val...	ORPHA:401923
Congenital Disorder Of Glycosylation, Type Iik	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:614727
Transient Neonatal Diabetes Mellitus	Abnormality of the urinary system, Maturity-onset diabetes of the young, Failure to thrive, Umbil...	ORPHA:99886
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:98863
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Tachypnea, Arthralgia	OMIM:616414
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,...	OMIM:606159
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating tetradecanoylcarnitine concentration, Hepatic failure, Elevated circulating ...	OMIM:619355
Mitochondrial Trifunctional Protein Deficiency	Tip-toe gait, Lower limb muscle weakness, Cholestasis, Hypoketotic hypoglycemia, Progressive dist...	ORPHA:746
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Aminoaciduria, Nephrocalcinosis, Small for gestational age, Failure to thrive, Reduc...	OMIM:208085
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia	OMIM:617836
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car...	ORPHA:79159
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Increased total bilirubin, Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubin...	OMIM:618528
Myofibrillar Myopathy 10	Ankle flexion contracture, Postexertional symptom exacerbation, Elbow flexion contracture, Myalgi...	OMIM:619040
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:606176
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia,...	OMIM:617145
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Maple Syrup Urine Disease, Type Ia	Elevated circulating branched chain amino acid concentration, Hypoglycemia, Elevated circulating ...	OMIM:248600
Autosomal Spastic Paraplegia Type 58	Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B...	ORPHA:397946
Gracile Syndrome	Aminoaciduria, Increased circulating iron concentration, Increased serum pyruvate, Increased circ...	OMIM:603358
Ullrich Congenital Muscular Dystrophy	Increased variability in muscle fiber diameter, Generalized amyotrophy, Increased endomysial conn...	ORPHA:75840
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia	OMIM:619738
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract, Inguinal hernia, Decreased body weight, Reduced bone mineral density, Small for gestati...	OMIM:618392
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hypoglycemic seizures, Decreased circulating cortisol level, Obesity, Hyperbilirubinemia	OMIM:609734
Bile Acid Synthesis Defect, Congenital, 2	Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Steatorrhea	OMIM:235555
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Unsteady gait, Gait ataxia, Recurrent hypoglycemia	OMIM:618158
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hyperleucinemia, Hyperammonemia, Hypervalinemia, Tachypnea, Increased blood urea nitrogen, Hyperi...	OMIM:620085
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperuricemia, Hyperlipidemia, Hypoglycemia	ORPHA:364
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat...	OMIM:245400
Hemochromatosis, Type 2A	Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg...	OMIM:602390
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hyp...	OMIM:614921
Hypermanganesemia With Dystonia 1	Increased total iron binding capacity, Hypermanganesemia, Steppage gait, Hepatomegaly, Unconjugat...	OMIM:613280
Lysinuric Protein Intolerance	Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Glomerulonephritis,...	ORPHA:470
Mehmo Syndrome	Difficulty walking, Gait ataxia, Hypoglycemia, Inability to walk	OMIM:300148
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Stage...	OMIM:617610
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Ataxia, Elevated circulating alpha-fetoprotein co...	OMIM:616267
X-Linked Charcot-Marie-Tooth Disease Type 4	Skeletal muscle atrophy, Impaired pain sensation, Gait disturbance, Ataxia, Scoliosis, Kyphosis	ORPHA:101078
Myopathic Ehlers-Danlos Syndrome	Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m...	ORPHA:536516
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero...	ORPHA:98853
Classic Galactosemia	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Ascites, ...	ORPHA:79239
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia, Inability to walk, Loss of ambulation, Gait disturbance, Athetosis	OMIM:618241
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ...	OMIM:616329
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology	ORPHA:3032
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, E...	OMIM:615381
Pyruvate Carboxylase Deficiency	Ataxia, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Tip-toe gait, Hyperglycemia...	ORPHA:3008
Tyrosinemia, Type I	Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, ...	OMIM:276700
Argininosuccinic Aciduria	Hepatic fibrosis, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, ...	OMIM:207900
Bachmann-Bupp Syndrome	Large for gestational age, Hyperbilirubinemia, Hypoglycemia	OMIM:619075
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Tremor, Ataxia	ORPHA:1368
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Maturity-onset diabetes of the young, Obesity, Joint hypermobility, Hypercholesterolemia, Truncal...	ORPHA:96184
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci...	OMIM:615751
Joubert Syndrome 9	Hepatic fibrosis, Apnea, Scoliosis, Episodic tachypnea	OMIM:612285
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Kyphosis, Skeletal muscle atrophy, Splenomegaly, Ataxia, Hepatomegaly, Scoliosis, ...	OMIM:230650
Combined Oxidative Phosphorylation Deficiency 47	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia	OMIM:618958
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Obesity, Recurrent fractures, Proteinuria, Increased blood ure...	ORPHA:251004
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Uruguay Faciocardiomusculoskeletal Syndrome	Joint contracture of the hand, Elevated circulating hepatic transaminase concentration, Difficult...	OMIM:300280
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cataract, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:615352
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulating threonine concent...	ORPHA:79096
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia	OMIM:618587
Biliary Atresia, Extrahepatic	Hepatomegaly, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Lethargy, Acute hepatic steatosis, Hypoglycemia	OMIM:210200
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Broad-based gait, Inability to walk, Lumbar hyperlordosis, Ataxia, Scoliosis, Kyphosis, Waddling ...	OMIM:616756
Urocanic Aciduria	Truncal ataxia, Gait ataxia, Action tremor, Ataxia	ORPHA:210128
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre...	OMIM:618484
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li...	ORPHA:435660
Myoclonic-Atonic Epilepsy	Eyelid myoclonus, Tremor, Ataxia	OMIM:616421
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Hepatic fibrosis, Portal hypertension, Ataxia	OMIM:617341
H Syndrome	Corneal arcus, Osteolysis, Hepatosplenomegaly, Recurrent fractures, Hernia, Lipodystrophy, Microp...	ORPHA:168569
Parastremmatic Dwarfism	Short neck, Scoliosis, Kyphosis, Flexion contracture	OMIM:168400
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Decreased liver function	ORPHA:67048
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Hyperinsulinemia, Gait ataxia, Hepatic steatosis, Hypertriglyceridemia, Myopa...	ORPHA:363400
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ...	OMIM:616026
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly	OMIM:607361
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel...	ORPHA:79084
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Broad-based gait, Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Hepatic steatosis, ...	OMIM:256810
Hepatic Lipase Deficiency	Corneal arcus, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Coach Syndrome 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morph...	OMIM:216360
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	ORPHA:30391
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Ataxia, Cataract, Inability to walk, Elevated circulating creatine kinase concentration	OMIM:615350
Cerebral Creatine Deficiency Syndrome 2	Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ...	OMIM:612736
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Failure to thrive, ...	ORPHA:508
Joubert Syndrome 7	Episodic tachypnea, Tachypnea, Central apnea, Ataxia, Scoliosis	OMIM:611560
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Hyperbilirubinemia, Renal insufficiency, Ataxia	ORPHA:713
Isolated Complex I Deficiency	Poor head control, Hypoglycemia, Lethargy, Ataxia, Hepatomegaly, Increased serum pyruvate, Diabet...	ORPHA:2609
Wilson Disease	Hypouricemia, Kayser-Fleischer ring, Osteomalacia, Hyperbilirubinemia, Hepatomegaly, Decreased ci...	OMIM:277900
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Cataract, Nuclear cataract, Inability to walk, Splenomegaly, Ataxia, Hepatomegaly, Hyperkalemia, ...	OMIM:608885
Hemochromatosis, Type 1	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:235200
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Dysmetria, Skeletal muscl...	OMIM:616263
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Elevated transferrin saturation, Increased circulating ferritin concentration	OMIM:205950
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Decreased liver function, Elevated circulating creatine kinase concentration	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Decreased liver function, Elevated circulating creatine kinase concentration	OMIM:618839
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Tremor, Ataxia	OMIM:278780
Liver Failure, Infantile, Transient	Hypoalbuminemia, Dicarboxylic aciduria, Hyperbilirubinemia, 3-hydroxydicarboxylic aciduria, Lacti...	OMIM:613070
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated circulating hepatic transaminase concentration, Ragged-red muscle fibers, Lethargy, Resp...	OMIM:613561
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Ascit...	OMIM:619487
Nephronophthisis 16	Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise...	OMIM:615382
Solitary Fibrous Tumor	Hypoglycemia, Recurrent hypoglycemia, Pelvic mass, Hypophosphatemic rickets, Neoplasm of the live...	ORPHA:2126
Leukodystrophy, Hypomyelinating, 11	Spasticity, Myoclonus, Tremor, Ataxia	OMIM:616494
Insulinoma	Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hype...	ORPHA:97279
Dent Disease	Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossif...	ORPHA:1652
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Highly elevated creatine kinase, Lower limb muscle weakness, Difficulty walking, Rhabdomyolysis, ...	OMIM:251900
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Cholestasis, Elevated...	OMIM:615486
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Hypoplasia of the iris, Megalocornea, Astigmatism, Joint hypermobility, Iridodonesis,...	ORPHA:2479
Cog4-Cdg	Failure to thrive in infancy, Hepatosplenomegaly, Hypercholesterolemia, Ataxia	ORPHA:263501
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotran...	ORPHA:2088
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig...	OMIM:618348
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, Hypoglycemia, Generalized amyotrophy	OMIM:610006
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoc...	OMIM:212065
Blue Diaper Syndrome	Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase concentration, Hype...	ORPHA:94086
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Galactosemia Iii	Hepatomegaly, Jaundice, Hypergalactosemia, Splenomegaly	OMIM:230350
Congenital Isolated Acth Deficiency	Hypoglycemic seizures, Hepatitis, Hyponatremia, Prolonged neonatal jaundice, Neonatal hypoglycemia	ORPHA:199296
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Delayed proximal f...	ORPHA:95716
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
Mitochondrial Trifunctional Protein Deficiency 2	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, Elev...	OMIM:620300
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul...	ORPHA:186
Acute Lung Injury	Respiratory distress, Tachypnea, Elevated circulating C-reactive protein concentration, Increased...	ORPHA:178320
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Hypoketotic hypoglycemia, Decr...	ORPHA:157
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Glycosuria, Hypoglycemia, Hepatic periportal ne...	OMIM:231680
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Splenomeg...	OMIM:606003
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Increased circulating ferritin concentration, Hyperglycemia, Joint stiffness, Spl...	ORPHA:465508
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S...	ORPHA:86816
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia	OMIM:213200
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ...	OMIM:610582
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Dysmetria, Gait distu...	OMIM:277460
2P21 Microdeletion Syndrome	Hypocalcemia, Hypoglycemia	ORPHA:163693
Parkinsonism-Dystonia 2, Infantile-Onset	Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdiadochokinesis	OMIM:618049
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Ataxia, Failure to thrive, Increased total bilirubin, Increased circulating ferr...	OMIM:603553
Smith-Magenis Syndrome	Abnormality of the urinary system, Abnormal heart morphology, Increased body weight, Abnormal ren...	OMIM:182290
Endocardial Fibroelastosis	Hypoglycemia	ORPHA:2022
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Dominant Beta-Thalassemia	Hepatic fibrosis, Abnormality of iron homeostasis, Hypoplasia of the musculature, Hepatosplenomeg...	ORPHA:231226
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Tremor, Hemiparesis, Parkinsonism, Dystonia	ORPHA:306669
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Shuffling gait, Upper limb muscle weakness, Lower limb muscle weakness, Elevated circulating crea...	ORPHA:209335
Coenzyme Q10 Deficiency, Primary, 9	Myoclonus, Tremor, Dysmetria, Lower limb spasticity, Ataxia	OMIM:619028
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	OMIM:616878
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Gait ataxia, Tremor, Ataxia	OMIM:617831
Gaisböck Syndrome	Nephrocalcinosis, Hypernatriuria, Obesity, Gout, Hyperuricemia, Hypercholesterolemia, Hypertrigly...	ORPHA:90041
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Nephritis, Hypertrophic cardiomyopathy, Inab...	OMIM:617303
Osteopetrosis, Autosomal Recessive 5	Mydriasis, Stillbirth, Cranial hyperostosis, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly...	OMIM:259720
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:613986
Lipodystrophy, Familial Partial, Type 7	Insulin resistance, Cataract, Type I diabetes mellitus, Dysdiadochokinesis, Failure to thrive, Gl...	OMIM:606721
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Inability to walk, Hyperalaninemia, Hyperammonemia, Hypoglycemia	OMIM:614739
Cog8-Cdg	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Hypoglycemia, A...	ORPHA:95428
Subaortic Stenosis-Short Stature Syndrome	Abnormal circulating lipid concentration, Type II diabetes mellitus, Biliary tract abnormality, S...	ORPHA:3191
Type 1 Diabetes Mellitus	Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus, Polyuria	OMIM:222100
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Nephrocalcinosis, Failure to thrive, Hypoglycemia, Xanthelasma, Stage 5 chronic kidne...	ORPHA:79259
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly	OMIM:616589
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice	ORPHA:172
Cardiomyopathy, Dilated, 1Ii	Cataract, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:615184
Megaloblastic Anemia, Folate-Responsive	Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration	OMIM:601775
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia	ORPHA:139485
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Ascites, Hyperammonemia, Cardiomegaly, Hyperalaninemia	OMIM:614702
Galactose Mutarotase Deficiency	Cholestasis, Hepatomegaly, Hypergalactosemia, Decreased liver function	ORPHA:570422
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, ...	ORPHA:240085
Cystic Echinococcosis	Abnormal heart morphology, Hyperbilirubinemia, Renal cyst, Weight loss, Membranous nephropathy, H...	ORPHA:400
Neurodegeneration With Brain Iron Accumulation 7	Tremor, Dysmetria, Lower limb spasticity, Ataxia, Dystonia	OMIM:617916
Hypertriglyceridemia 1	Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Methylmalonic Aciduria, Cblb Type	Hypoglycemia, Elevated circulating propionylcarnitine concentration, Hyperglycinemia, Hyperammone...	OMIM:251110
Smith-Magenis Syndrome	Microcornea, Failure to thrive in infancy, Abnormality of the ureter, Obesity, Joint stiffness, R...	ORPHA:819
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased...	OMIM:618329
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Hypoketotic hypoglycemia, Cholestatic liver disease	ORPHA:5
Beta-Propeller Protein-Associated Neurodegeneration	Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia	ORPHA:329284
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg...	OMIM:615415
Aceruloplasminemia	Decreased circulating iron concentration, Increased circulating ferritin concentration, Acerulopl...	OMIM:604290
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Tachypnea, Abnormal circulating protein concentration, Elevated circulating...	ORPHA:264675
Myopathy With Extrapyramidal Signs	Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Diff...	OMIM:615673
Bile Acid Synthesis Defect, Congenital, 4	Hepatomegaly, Hyperbilirubinemia, Failure to thrive, Decreased serum bile acid concentration	OMIM:214950
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Ataxia, Bradykinesi...	OMIM:619725
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia, Urinary hesitancy, Hiatus hernia, Nocturia, Urinary incontinence, Ur...	OMIM:609727
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Lethargy, Hyperammonemia	ORPHA:28
Beta-Thalassemia Major	Hepatic fibrosis, Abnormality of iron homeostasis, Hypoplasia of the musculature, Hepatosplenomeg...	ORPHA:231214
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci...	OMIM:207750
Myasthenic Syndrome, Congenital, 25, Presynaptic	Generalized amyotrophy, Myopathy, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity	OMIM:618323
Marinesco-Sjogren Syndrome	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Limb ataxia...	OMIM:248800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti...	OMIM:613157
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Joint contracture of the hand, Distal amyotrophy, Foot joint contracture, Exocrine pancreatic ins...	ORPHA:456312
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkinsonism, Head...	OMIM:618877
Lipodystrophy, Familial Partial, Type 5	Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly, Increased C-peptide level, Diabetic ketoac...	OMIM:615238
Lathosterolosis	Cataract, Elevated circulating lathosterol concentration, Horseshoe kidney, Hyperbilirubinemia, H...	OMIM:607330
Sialidosis Type 2	Skeletal muscle atrophy, Ascites, Splenomegaly, Ataxia, Hepatomegaly, Flexion contracture, Kyphosis	ORPHA:87876
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Bradykinesia, Postural tremor, Rigidity, Clumsiness, Parkinsonism, Dystonia	OMIM:619911
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami...	ORPHA:84081
Long-Olsen-Distelmaier Syndrome	Cataract, Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Failure to th...	OMIM:620609
Hsd10 Disease, Infantile Type	Hypoglycemia, Hyperammonemia, Cardiomegaly, Loss of ambulation, Poor head control, Choreoathetosis	ORPHA:391428
Typical Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni...	ORPHA:171436
Dystonia 34, Myoclonic	Hand tremor, Head tremor, Myoclonus, Torticollis, Writer's cramp, Dystonia	OMIM:619724
Dubin-Johnson Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal urinary color	ORPHA:234
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Distal sensory impairmen...	OMIM:151800
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperoxaluria	OMIM:601539
Biotinidase Deficiency	Apnea, Hyperammonemia, Splenomegaly, Tachypnea, Ataxia, Hepatomegaly	OMIM:253260
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Broad-based gait, Hepatic steatosis, Pancreatitis, Elevated circulating alanine ...	OMIM:618805
Graft Versus Host Disease	Failure to thrive, Fasciitis, Hepatosplenomegaly, Hyperbilirubinemia, Dupuytren contracture, Limi...	ORPHA:39812
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Neuhauser Syndrome	Osteopenia, Hypoplasia of the iris, Megalocornea, Iridodonesis, Hypercholesterolemia, Ataxia, Iri...	OMIM:249310
Neutral Lipid Storage Disease With Ichthyosis	Ataxia, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Shoulder...	ORPHA:98907
Glutaric Acidemia I	Hepatomegaly, Elevated circulating glutaric acid concentration, Choreoathetosis, Hypoglycemia	OMIM:231670
Glycogen Storage Disease Ii	Firm muscles, Difficulty walking, Limb muscle weakness, Splenomegaly, Diaphragmatic paralysis, El...	OMIM:232300
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Cataract, Hypertrophic cardiomyopathy, Obesity, Elevated circulating creatine kinase concentratio...	OMIM:615418
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive	OMIM:601847
Tetanus	Respiratory distress, Elevated circulating creatine kinase concentration, Rigors, Tachypnea, Abdo...	ORPHA:3299
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Parkinsonism, ...	ORPHA:99750
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A...	OMIM:600886
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Hepatic failure, Elevated circulating hepatic transaminase concentr...	ORPHA:415
Anemia, Congenital Dyserythropoietic, Type Iv	Hypertrophic cardiomyopathy, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Reduced haptog...	OMIM:613673
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Neonatal hypoglycemia, Diastasis recti, Hypoglycemia	ORPHA:231140
Mitochondrial Dna Depletion Syndrome 11	Spinal rigidity, Generalized amyotrophy, Exercise intolerance, Ragged-red muscle fibers, Elevated...	OMIM:615084
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Osteomalacia, Proximal renal tubular acidosis, Bicarbonaturia, Ami...	OMIM:309000
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Impaired pain sensation, Foot dorsiflexor weakness, Distal sensory impairment, Loss of ambulation...	OMIM:618124
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm...	OMIM:602347
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Osteopenia, Limitation of joint mobility, Failure to thrive,...	OMIM:252500
Peroxisome Biogenesis Disorder 13A (Zellweger)	Dicarboxylic aciduria, Neonatal death, Hepatomegaly, Posterior embryotoxon, Increased circulating...	OMIM:614887
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Lethargy, Hypoglycemia	OMIM:229700
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Increased serum...	OMIM:619377
Relapsing Fever	Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu...	ORPHA:91547
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy, Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Hypokale...	OMIM:604278
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiomegaly, Tachypnea, Maternal diabetes, Hepatomegaly, Right ventricular hypertrophy	ORPHA:860
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Microvesi...	OMIM:611126
Methionine Malabsorption Syndrome	Positive ferric chloride test, Tachypnea	OMIM:250900
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Splenomegaly, Increased total bilirubin	ORPHA:90037
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp...	OMIM:262190
Senior-Loken Syndrome 9	Cholestasis, Hepatic fibrosis	OMIM:616629
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Hypoglycemia, Dysmetria, Limb hypertonia, Ataxia, Athetosis, Muscle weak...	OMIM:617710
Adult-Onset Cervical Dystonia, Dyt23 Type	Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, Torticollis, Writer's...	ORPHA:420492
Glut1 Deficiency Syndrome 2	Dystonia, Choreoathetosis, Tremor, Ataxia	OMIM:612126
Sitosterolemia 1	Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reduced haptoglobin level, Elevated circu...	OMIM:210250
Reni Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Ataxia, Steroid-resistant nephrotic syndrome...	OMIM:617575
Tangier Disease	Distal amyotrophy, Decreased HDL cholesterol concentration, Facial diplegia, Splenomegaly, Elevat...	OMIM:205400
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	OMIM:124000
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Failure to thrive, Enlarged kidney	OMIM:615285
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Myoclonic spasms, Ataxia, Dystonia,...	ORPHA:79263
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi...	OMIM:615157
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Myalgia, Splenomegaly, Hepatic steatosis...	ORPHA:79083
Hyperphenylalaninemia, Bh4-Deficient, A	Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor...	OMIM:261640
Epilepsy, Progressive Myoclonic, 6	Myoclonus, Tremor, Ataxia	OMIM:614018
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl...	OMIM:608612
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Cataract, Failure to thrive, Athetosis, Elevated circulating phytanic acid concentra...	OMIM:614866
Spinocerebellar Ataxia Type 21	Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressive cerebell...	ORPHA:98773
Mcleod Syndrome	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Reduced haptoglobin ...	OMIM:300842
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J...	OMIM:603552
Spastic Paraplegia 46, Autosomal Recessive	Impaired vibratory sensation, Spastic gait, Lower limb muscle weakness, Impaired vibration sensat...	OMIM:614409
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Increased variability in muscle fiber diameter, Exercise intolerance, Elevate...	OMIM:613327
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Exercise intolerance, Elevated circulating hepatic transaminase concentration, D...	OMIM:613658
Atypical Juvenile Parkinsonism	Involuntary movements, Resting tremor, Myoclonus, Gait ataxia, Rigidity, Dystonia, Abnormal pyram...	ORPHA:391411
Cholera	Hypoglycemia, Abnormal blood ion concentration, Hypocalcemia, Hypokalemia, Hyponatremia, Tachypne...	ORPHA:173
Mitochondrial Complex I Deficiency, Nuclear Type 11	Myopathy, Hepatomegaly, Macrovesicular hepatic steatosis, Scoliosis, Kyphosis	OMIM:618234
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdiadochokinesis	OMIM:610185
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hand tremor	OMIM:609153
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Hyperammonemia, Ataxia	ORPHA:79242
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Chronic fatigue, Bone pain	OMIM:610539
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Hypogly...	OMIM:231530
Hemochromatosis, Type 5	Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir...	OMIM:615517
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Acromesomelic Dysplasia, Maroteaux Type	Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo...	ORPHA:40
Fructose Intolerance, Hereditary	Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Hypoglycemia, Failure to thrive, Hyper...	OMIM:229600
Non-Acquired Isolated Growth Hormone Deficiency	Prolonged neonatal jaundice, Neonatal hypoglycemia, Decreased muscle mass	ORPHA:631
Congenital Disorder Of Glycosylation, Type Ie	Ankle flexion contracture, Muscular dystrophy, Elevated circulating hepatic transaminase concentr...	OMIM:608799
Hypercholesterolemia, Familial, 3	Corneal arcus, Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity	ORPHA:98870
Leukodystrophy, Hypomyelinating, 6	Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis	OMIM:612438
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Hypertonia, Tremor, Rigidity	OMIM:176500
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d...	OMIM:612953
Cdkl5-Deficiency Disorder	Impaired pain sensation, Difficulty walking, Gait disturbance, Scoliosis, Kyphosis	ORPHA:505652
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Umbilical hernia, Large for gestational age, Inguinal hernia, Nephroblastoma, Enlarged kidney	OMIM:618272
Mitchell-Riley Syndrome	Hyperglycemia, Hyperbilirubinemia, Diabetes mellitus	OMIM:615710
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cataract, Cardiomyopathy, Urinary bladder sphincter dysfunction, Pathologic fracture, Increased s...	ORPHA:52430
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia	OMIM:605479
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia	ORPHA:70594
X-Linked Charcot-Marie-Tooth Disease Type 5	Impaired pain sensation, Gait disturbance, Ataxia, Scoliosis, Kyphosis, Skeletal muscle hypertrophy	ORPHA:99014
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Tremor, Gait ataxia, Dysmetria, Ataxia	OMIM:618387
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Hypoglycemia	ORPHA:231147
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	ORPHA:79301
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Hyperbilirubinemia, Mild proteinuria, Increased serum bile acid concentration	OMIM:619685
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Unconjugated hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level	OMIM:266200
Hereditary Spherocytosis	Restrictive cardiomyopathy, Hyperbilirubinemia, Gout, Splenomegaly, Ataxia, Hepatomegaly	ORPHA:822
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonis...	OMIM:606693
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly	OMIM:612653
Alpha-Mannosidosis	Type II diabetes mellitus, Splenomegaly, Short neck, Hepatomegaly, Macroglossia, Scoliosis, Kyphosis	ORPHA:61
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypernatremia, Abnormal conju...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypernatremia, Abnormal conju...	ORPHA:529799
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Hepatitis, Respiratory distress, Elevated circulating creatinine concentration, ...	ORPHA:36234
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating hepatic transaminase concentration, Elevated circulating creatinine concentr...	ORPHA:542323
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Hypermethioninemia, Increased circulating iro...	OMIM:222470
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp...	OMIM:615453
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	ORPHA:480864
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Abnormal heart morph...	ORPHA:85445
Malignant Hyperthermia Of Anesthesia	Hyperphosphatemia, Necrotizing myopathy, Acute hepatic failure, Exercise-induced rhabdomyolysis, ...	ORPHA:423
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Generalized amyotrophy, Exercise intolerance, Ragged-red muscle fibers, Myopathy...	ORPHA:352447
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated circulating hepatic transaminase concentration, Cardiomegaly, Hyperprolinemia, Lethargy,...	OMIM:619064
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Facial myokymia, Ataxia	OMIM:620007
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Abnormal heart morphology, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Urin...	ORPHA:505248
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome...	OMIM:263200
Scorpion Envenomation	Glycosuria, Elevated circulating aspartate aminotransferase concentration, Hyperglycemia, Paresth...	ORPHA:466677
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormal heart morphology, Hypertrophic cardiomyopathy, Hyperbilirubinemia, Hip contracture, Abno...	ORPHA:464321
Linear Verrucous Nevus Syndrome	Cataract, Abnormal cornea morphology, Reduced bone mineral density, Hypophosphatemia, Abnormality...	ORPHA:2611
Acquired Aneurysmal Subarachnoid Hemorrhage	Hyperglycemia, Left ventricular hypertrophy, Hypercholesterolemia	ORPHA:90065
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol...	OMIM:271530
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu...	OMIM:610600
Spinocerebellar Ataxia 8	Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	OMIM:608768
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Limb muscle weakness, S...	OMIM:604320
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles...	OMIM:607616
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Spastic gait, Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, Dysme...	OMIM:238970
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin resistance, Enlarged polycystic ovaries, Enlarged kidney, Insulin-resistant diabetes mell...	ORPHA:90301
Hypotonia-Cystinuria Syndrome	Hypocalcemia, Ragged-red muscle fibers, Facial palsy, Neonatal hypoglycemia, Muscle weakness	OMIM:606407
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Bulbar palsy, ...	OMIM:619055
Gaucher Disease Type 2	Hepatomegaly, Ophthalmoplegia, Flexion contracture, Splenomegaly	ORPHA:77260
Dilated Cardiomyopathy With Ataxia	Generalized amyotrophy, Elevated circulating hepatic transaminase concentration, Elevated circula...	ORPHA:66634
Hypercholesterolemia, Familial, 2	Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:144010
Diaphanospondylodysostosis	Tracheomalacia, Delayed vertebral ossification, Nephroblastomatosis, Nephrogenic rest, Horseshoe ...	OMIM:608022
Joubert Syndrome 6	Hepatic fibrosis, Bile duct proliferation, Ataxia	OMIM:610688
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Hyperbilirubinemia, Splenomegaly	OMIM:235700
Glycogen Storage Disease Xii	Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Elevated circulating creatine kinase...	OMIM:611881
Acute Interstitial Pneumonia	Chest pain, Elevated circulating creatinine concentration, Myalgia, Tachypnea, Arthralgia, Fatigu...	ORPHA:79126
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Tremor, Gait ataxia, Dysmetria, Rigidity	OMIM:618090
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Skelet...	ORPHA:367
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ...	ORPHA:101
Pyruvate Dehydrogenase Deficiency	Tachypnea, Gait disturbance, Choreoathetosis, Ataxia	ORPHA:765
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Difficulty walking, Inability to wal...	OMIM:611890
Congenital Bile Acid Synthesis Defect Type 3	Hepatosplenomegaly, Hyperbilirubinemia	ORPHA:79302
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:616689
Spherocytosis, Type 1	Hyperbilirubinemia, Splenomegaly	OMIM:182900
Hyperparathyroidism, Neonatal Severe	Splenomegaly, Tachypnea, Hypophosphatemia, Calcinosis, Hepatomegaly, Hypercalcemia	OMIM:239200
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi...	OMIM:607060
Peroxisome Biogenesis Disorder 7A (Zellweger)	Elevated circulating hexacosanoic acid concentration, Cataract, Epiphyseal stippling, Hepatomegal...	OMIM:614872
Glutathionuria	Dysdiadochokinesis, Action tremor, Tremor	OMIM:231950
Acth Deficiency, Isolated	Cholestasis, Jaundice, Fasting hypoglycemia	OMIM:201400
Hemochromatosis, Type 3	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:604250
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Lymphoproliferative Syndrome, X-Linked, 2	Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepa...	OMIM:300635
Spinocerebellar Ataxia, Autosomal Recessive 13	Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochokinesis	OMIM:614831
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Difficul...	OMIM:615356
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Chorea, Hyperammonemia, Pancreatitis, Hepatomegaly, Choreoathetosis	ORPHA:289916
Flynn-Aird Syndrome	Skeletal muscle atrophy, Impaired pain sensation, Type II diabetes mellitus, Ataxia, Scoliosis, K...	ORPHA:2047
Spherocytosis, Type 2	Hyperbilirubinemia, Splenomegaly	OMIM:616649
Spinocerebellar Ataxia With Epilepsy	Myoclonus, Gait ataxia, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive cerebellar a...	ORPHA:254881
Polyendocrine-Polyneuropathy Syndrome	Elevated hemoglobin A1c, Type I diabetes mellitus, Hypoglycemia, Ataxia	OMIM:616113
Alpha-Heavy Chain Disease	Ascites, Hepatomegaly, Splenomegaly, Hypocalcemia	ORPHA:100025
Pearson Marrow-Pancreas Syndrome	3-Methylglutaric aciduria, Type I diabetes mellitus, Failure to thrive, Hyperbilirubinemia, Hepat...	OMIM:557000
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Hyperammonemia, Hyperglutamatemia, Hyperglutaminemia, Low plasma citrulline...	OMIM:237310
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Splenomegaly, Hyperammonemia, Pancreatitis, Hepatomegaly, Abdominal pain, C...	ORPHA:79312
Fumarase Deficiency	Aminoaciduria, Elevated urine fumaric acid level, Conjunctival icterus, Failure to thrive, Hyperb...	OMIM:606812
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Cardiomyopathy, Dicarboxylic a...	ORPHA:228308
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Flexion contracture, Congenital diaphragmatic hernia	OMIM:263210
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia, Tip-toe gait, Patent foramen ovale	ORPHA:293939
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia,...	ORPHA:79085
Mednik Syndrome	Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concentration, Ci...	OMIM:609313
Spinocerebellar Ataxia 42	Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait	OMIM:616795
Cystathioninuria	Tremor	ORPHA:212
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor	OMIM:614307
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Neurooculorenal Syndrome	Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Recurrent hypogly...	OMIM:620305
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia, Fatigue, Hyperalan...	ORPHA:927
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplastic cervical vertebrae, Atlantoaxial instability, Cervical spinal cana...	ORPHA:79345
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Hereditary Fructose Intolerance	Hypermagnesemia, Reactive hypoglycemia, Hyperuricemia, Chronic hepatic failure, Hypophosphatemia,...	ORPHA:469
Glycosylphosphatidylinositol Biosynthesis Defect 15	Spasticity, Gait ataxia, Tremor, Dysmetria, Apraxia	OMIM:617810
Mitochondrial Complex I Deficiency, Nuclear Type 33	Loss of ambulation, Hyperammonemia, Hypoglycemia	OMIM:618253
Joubert Syndrome With Hepatic Defect	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Conge...	ORPHA:1454
Brain Dopamine-Serotonin Vesicular Transport Disease	Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, Parkinsonism, Hy...	ORPHA:352649
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Hypoglycemia, Exocrine pancreatic insuf...	OMIM:619418
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia	ORPHA:1170
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Decreased liver function, Hypoglycemia, Elevated circulating aspartate a...	OMIM:608779
Congenital Myopathy 22A, Classic	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620351
Short Stature, Microcephaly, And Endocrine Dysfunction	Insulin resistance, Unilateral renal agenesis, Renal hypoplasia, Dilated cardiomyopathy, Cataract...	OMIM:616541
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Renal salt wasting, Ataxia, Increased circulating renin level	OMIM:619406
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Upper limb hypertonia, Gait disturbance, Kyphosis, Lower limb hyper...	OMIM:614898
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Failure to thrive, Umbilical hernia, Abnormal circulating thyroglobu...	ORPHA:90674
Galactosemia I	Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Cataract, Failure ...	OMIM:230400
Lopes-Maciel-Rodan Syndrome	Spasticity, Bradykinesia, Tremor, Ankle clonus, Abnormal pyramidal sign, Hypertonia, Dystonia	OMIM:617435
Perry Syndrome	Parkinsonism, Tremor, Abnormality of extrapyramidal motor function	ORPHA:178509
Alagille Syndrome 1	Axenfeld anomaly, Ventricular septal defect, Posterior embryotoxon, Atrial septal defect, Duplica...	OMIM:118450
Beta-Thalassemia Intermedia	Osteopenia, Proximal tubulopathy, Hepatosplenomegaly, Reduced bone mineral density, Splenomegaly,...	ORPHA:231222
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Increased total bilirubin	ORPHA:90036
Meckel Syndrome, Type 8	Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Infantile Refsum Disease	Elevated circulating phytanic acid concentration, Progressive muscle weakness, Ataxia, Hepatomega...	ORPHA:772
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Combined Oxidative Phosphorylation Deficiency 12	Bradykinesia, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Ragged-...	OMIM:614924
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Camptodactyly, Kyphosis	OMIM:618453
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Myalgia, Splenomegaly, Hepatic steatosis, Myopathy, Pancreatitis, Hypertrigly...	ORPHA:2348
Autosomal Recessive Polycystic Kidney Disease	Hepatic fibrosis, Periportal fibrosis, Cholestasis, Ascites, Hepatosplenomegaly, Hypersplenism, P...	ORPHA:731
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Cataract, Joint contracture, Elevated circulating creatine kinase concentration	OMIM:615351
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly, Generalized m...	ORPHA:308552
Beta-Thalassemia	Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Abnormality of iron homeostasis, Reduced...	ORPHA:848
Houge-Janssens Syndrome 1	Hypoglycemia, Gait ataxia, Congenital muscular torticollis, Fatigue, Facial hypotonia, Scoliosis	OMIM:616355
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C...	ORPHA:60
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hyperbilirubinemia	OMIM:266120
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Titubation, Dysmetria, Ataxia	OMIM:619405
Scapuloperoneal Spinal Muscular Atrophy	Progressive distal muscular atrophy, Peroneal muscle atrophy, Muscle fiber splitting, Broad-based...	OMIM:181405
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Left ventricular noncompaction, Tachypnea	OMIM:616501
Hemoglobin H Disease	Hepatomegaly, Splenomegaly	OMIM:613978
Fetal Cytomegalovirus Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly	ORPHA:294
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Increased circulat...	ORPHA:90673
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Kyphosis, Upper limb hypertonia, Impaired proprioception	ORPHA:319199
Aromatic L-Amino Acid Decarboxylase Deficiency	Poor head control, Joint contracture, Limb hypertonia, Hypoglycemia	ORPHA:35708
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Tachypnea, Hyperhomocys...	OMIM:614857
Congenital Erythropoietic Porphyria	Osteopenia, Red-brown urine, Purple urine, Increased urinary porphobilinogen, Abnormal circulatin...	ORPHA:79277
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Congenital Disorder Of Deglycosylation 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Facial hypotonia, Dysm...	OMIM:615273
Combined Oxidative Phosphorylation Deficiency 58	Ophthalmoparesis, Hypoglycemia, Difficulty walking, Gait ataxia, Ragged-red muscle fibers, Hyperp...	OMIM:620451
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Generalized dystonia, Tremor, Babinski sign, Hypertonia, Torticollis, Torsion dyst...	OMIM:128100
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Joubert Syndrome 23	Tachypnea, Apnea	OMIM:616490
Ullrich Congenital Muscular Dystrophy 1A	Increased variability in muscle fiber diameter, Muscular dystrophy, Generalized amyotrophy, Kypho...	OMIM:254090
Hypermanganesemia With Dystonia 2	Spasticity, Generalized dystonia, Limb dystonia, Tremor, Ankle clonus, Dystonia, Opisthotonus, Pa...	OMIM:617013
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Hepatitis, Hypoglycemia, Hyperuricemia, Hyponatremia, Lethargy, Hyperca...	ORPHA:199299
East Syndrome	Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Hyperaldoste...	ORPHA:199343
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Skele...	ORPHA:333
Bardet-Biedl Syndrome 1	Insulin resistance, Hepatic fibrosis, Gait imbalance, Biliary tract abnormality, Left ventricular...	OMIM:209900
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Hereditary Cryohydrocytosis With Reduced Stomatin	Cataract, Hepatosplenomegaly, Zonular cataract, Ataxia, Conjugated hyperbilirubinemia	ORPHA:168577
Intrahepatic Cholestasis Of Pregnancy	Hyperbilirubinemia, Small for gestational age, Increased serum bile acid concentration	ORPHA:69665
Chanarin-Dorfman Syndrome	Hepatic steatosis, Myopathy, Ataxia, Hepatomegaly, Muscle weakness	OMIM:275630
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Hemoglobinuria, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase leve...	OMIM:300908
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Generalized muscle weakness, Elevated circulating creatine kinase concentration, Type 1 fibers re...	OMIM:619424
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Tetraparesis, Chorea, Cogwheel rigidity, Action tremor, Gait ataxia, Rigidity...	OMIM:607483
Cidec-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis, Calf muscle hypertrophy, Hy...	ORPHA:435651
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Splenomegaly	OMIM:606445
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Dysplastic sacrum, Cardiomegaly, Short neck, Tachypnea, Severe platyspondyly	OMIM:613320
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:185000
Myopathy, Centronuclear, 2	Centrally nucleated skeletal muscle fibers, EMG: myopathic abnormalities, Hyperlordosis, Scapular...	OMIM:255200
Gerstmann-Straussler Disease	Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Truncal...	OMIM:137440
Prader-Willi Syndrome	Osteopenia, Class III obesity, Decreased HDL cholesterol concentration, Failure to thrive in infa...	OMIM:176270
Ataxia With Vitamin E Deficiency	Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Hypertonia, Ataxia, Dystonia,...	ORPHA:96
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Small for gestational age	OMIM:224120
Polyendocrine-Polyneuropathy Syndrome	Proximal muscle weakness in lower limbs, Hypoglycemia, Type II diabetes mellitus, Ataxia, Hypoins...	ORPHA:453533
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis, Tachypnea, Arthralgia, Elevated circulating C-reactive protein...	OMIM:615934
Congenital Bile Acid Synthesis Defect Type 4	Ataxia, Cataract, Type II diabetes mellitus, Elevated circulating creatine kinase concentration	ORPHA:79095
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Osteomalacia, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Aminoaci...	ORPHA:534
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra...	OMIM:241150
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Increased total bilirubin, Increased circulating ferritin concentrat...	ORPHA:3202
Osteomesopyknosis	Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis	ORPHA:2777
Liver Disease, Severe Congenital	Dilatation of the ventricular cavity, Hyperbilirubinemia, Ventricular septal defect, Atrial septa...	OMIM:619991
Joubert Syndrome 1	Poor head control, Hepatic fibrosis, Macroglossia, Ataxia	OMIM:213300
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Gait disturbance, Scoliosis, Kyphosis, Ataxia	ORPHA:85317
Werner Syndrome	Cataract, Elevated hemoglobin A1c, Reduced bone mineral density, Hypertriglyceridemia, Osteoporos...	OMIM:277700
Low Phospholipid-Associated Cholelithiasis	Obesity, Overweight, Hypercholesterolemia, Diabetes mellitus	ORPHA:69663
Pseudohypoparathyroidism Type 1B	Cataract, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic ...	ORPHA:94089
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Decreased circulating carnitine concentration, Skeletal muscle atrophy, Hypoglycemia, Hyperammone...	OMIM:210210
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Decreased circulating carnitine concentration, Hypoglycemia, Elevated circulating aspartate amino...	OMIM:246450
Masa Syndrome	Shuffling gait, Kyphosis, Hyperlordosis	OMIM:303350
Spinocerebellar Ataxia Type 27	Hand tremor, Limb ataxia, Gait ataxia, Tremor, Truncal ataxia	ORPHA:98764
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis...	OMIM:613489
Corticosterone Methyloxidase Type I Deficiency	Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level	OMIM:203400
Late-Onset Familial Hypoaldosteronism	Failure to thrive, Renal sodium wasting, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal ...	ORPHA:556037
Nephronophthisis 3	Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein...	OMIM:604387
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Conjunct...	ORPHA:36913
Mitochondrial Complex I Deficiency, Nuclear Type 1	Poor head control, Hepatic failure, Skeletal muscle atrophy, Hypoglycemia, Splenomegaly, Ragged-r...	OMIM:252010
Timothy Syndrome	Cardiomegaly, Hypocalcemia, Hypoglycemia	OMIM:601005
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Broad-based gait, Respiratory distress, Difficulty walking, Tachypnea, Ataxia, Choreoathetosis	OMIM:610978
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:275761
Rh Deficiency Syndrome	Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, Tachypnea, Jaundice	ORPHA:71275
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations	OMIM:313200
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Short neck, Camptodactyly, Arthrogryposis multiplex congenita, Kyphosis	OMIM:618393
Transketolase Deficiency	Increased level of ribose in urine, Cataract, Type I diabetes mellitus, Elevated circulating ribi...	ORPHA:488618
Meckel Syndrome, Type 6	Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cystic liver disease	OMIM:612284
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hyperammonemia, Lethargy, Pancreatitis, Ataxia, Hepatomegaly, Choreoathetosis	ORPHA:27
Hardikar Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:301068
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency, Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabete...	OMIM:609812
Beckwith-Wiedemann Syndrome	Nephropathy, Congenital diaphragmatic hernia, Hepatomegaly, Neonatal hypoglycemia, Visceromegaly,...	ORPHA:116
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Failure to thrive, Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Renal salt w...	OMIM:614736
Hypoparathyroidism, Familial Isolated, 1	Cataract, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Resting tremor, Tremor, Dystonia, Babinski sign, Parkins...	OMIM:300055
O'Donnell-Luria-Rodan Syndrome	Prolonged neonatal jaundice, Kyphosis	OMIM:618512
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hep...	OMIM:620376
Immunodeficiency 10	Hepatomegaly, Myopathy, Splenomegaly, Hypoglycemia	OMIM:612783
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Type II diabetes mellitus, Hyperinsulinemia, Kyphosis, Hyperlordosis	ORPHA:3085
Cardiocranial Syndrome, Pfeiffer Type	Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, E...	ORPHA:2872
Fibrosis Of Extraocular Muscles, Congenital, 3C	Congenital fibrosis of extraocular muscles, Kyphosis	OMIM:609384
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Broad-based gait, Distal muscle weakness, Diabetes mellitus, Hypoglycemia	ORPHA:391408
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Renal sodium wasting, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal ...	ORPHA:556030
Muscle-Eye-Brain Disease	Cataract, Gait disturbance, Elevated circulating creatine kinase concentration	ORPHA:588
Wilson Disease	Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,...	ORPHA:905
Alg1-Cdg	Hypoalbuminemia, Scoliosis, Kyphosis, Decreased liver function	ORPHA:79327
Aceruloplasminemia	Decreased circulating iron concentration, Increased circulating ferritin concentration, Acerulopl...	ORPHA:48818
Rhizomelic Chondrodysplasia Punctata, Type 2	Cataract, Osteopenia, Failure to thrive, Tetralogy of Fallot, Epiphyseal stippling, Inguinal hern...	OMIM:222765
Behr Syndrome	Dysmetria, Tremor, Babinski sign, Ataxia, Truncal ataxia, Progressive spasticity, Frequent falls	OMIM:210000
Niemann-Pick Disease, Type A	Skeletal muscle atrophy, Ascites, Elevated circulating aspartate aminotransferase concentration, ...	OMIM:257200
Refsum Disease, Classic	Cataract, Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly, Ataxia,...	OMIM:266500
Joubert Syndrome 30	Tachypnea, Apnea	OMIM:617622
Juvenile Neuronal Ceroid Lipofuscinosis	Loss of ambulation, Episodic tachypnea, Apnea	ORPHA:79264
Spinocerebellar Ataxia, Autosomal Recessive 8	Limb ataxia, Gait ataxia, Dysmetria, Scoliosis, Kyphosis	OMIM:610743
Autoimmune Hepatitis	Glomerulonephritis, Splenomegaly, Arthritis, Increased total bilirubin	ORPHA:2137
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic cysts, Conju...	OMIM:208500
Free Sialic Acid Storage Disease	Ascites, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Gait disturbance, At...	ORPHA:834
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Hyperphosphatemia, Decreased liver function, Hypocalcemia, Rhabdomyolysis, Eleva...	ORPHA:466650
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Postural tremor, Dysmetria, Tremor, Babinski sign, Ataxia, Dystonia	OMIM:607694
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Myoclonus, Tremor, Ataxia	OMIM:607876
Pseudohypoparathyroidism, Type Ic	Cataract, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic ...	OMIM:612462
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney	OMIM:200995
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia	ORPHA:542310
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Night swe...	ORPHA:507
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis	ORPHA:85288
Isolated Atp Synthase Deficiency	Hyperammonemia, Ophthalmoplegia, Lethargy, Hyperalaninemia, Ataxia, Hepatomegaly, Muscle weakness	ORPHA:254913
Waisman Syndrome	Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favorable response t...	OMIM:311510
Joubert Syndrome 3	Episodic tachypnea, Central apnea, Ataxia	OMIM:608629
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Cataract, Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney...	OMIM:614376
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hypoglycemia	ORPHA:231137
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating hepatic transaminase concentration, Myopathy, Elevated circulating creatine ...	OMIM:617713
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Difficulty walking, Ataxia, Urinary incontinence, Unsteady gait, Scoliosis, Kyphosis, Waddling gait	ORPHA:464282
Aica-Ribosiduria Due To Atic Deficiency	Hyponatremia, Hypoglycemia	OMIM:608688
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis	OMIM:233910
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Tip-toe gait, Limited knee flexion/extension, Inability to walk, Limited hip movement, Elevated c...	ORPHA:268
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia	OMIM:300894
Joubert Syndrome With Oculorenal Defect	Tachypnea, Apnea, Scoliosis, Ataxia	ORPHA:2318
Primary Fanconi Renotubular Syndrome	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co...	ORPHA:3337
Cirrhotic Cardiomyopathy	Exercise intolerance, Abnormal circulating B-type natriuretic peptide concentration, Postexertion...	ORPHA:57777
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Scoliosis, Kyphosis	OMIM:300434
Acquired Generalized Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration...	ORPHA:79086
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Hyperalaninemia, Ketotic hypoglycemia	OMIM:620646
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Claw hand deformity, Short neck, Arthralgia, Hyperlordosis, ...	OMIM:252605
Creatine Phosphokinase, Elevated Serum	Muscular dystrophy, Myalgia, Inflammatory myopathy, Myopathy, Elevated circulating creatine kinas...	OMIM:123320
Joubert Syndrome	Abnormal form of the vertebral bodies, Episodic tachypnea, Apnea, Gait disturbance, Ataxia, Scoli...	ORPHA:475
Whipple Disease	Insulin resistance, Chest pain, Myalgia, Splenomegaly, Hyponatremia, Myositis, Arthralgia, Fatigu...	ORPHA:3452
Primary Triglyceride Deposit Cardiomyovasculopathy	Rimmed vacuoles, Precordial pain, Abnormality of the shoulder girdle musculature, Hyperlipidemia,...	ORPHA:565612
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Pseudohypoparathyroidism, Type Ia	Cataract, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic ...	OMIM:103580
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Cataract, Renal hypoplasia, Nephrocalcinosis, Osteopenia, Inability to walk, Renal...	OMIM:617913
Igg4-Related Kidney Disease	Chronic kidney disease, Urethritis, Hematuria, Weight loss, Tubulointerstitial nephritis, Elevate...	ORPHA:449395
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, P...	OMIM:261740
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Gait disturbance, Scoliosis, Kyphosis	ORPHA:2429
Classic Hodgkin Lymphoma	Chest pain, Splenomegaly, Fatigue, Ataxia, Hepatomegaly, Bone pain	ORPHA:391
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Dilatation of the renal pelvis, Hyperbilirubinemia, Dar...	OMIM:619534
Polymyositis	Myalgia, Elevated circulating creatine kinase concentration, Arthralgia, Fatigue, Gait disturbanc...	ORPHA:732
Rh-Null, Amorph Type	Hyperbilirubinemia	OMIM:617970
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Ascites, Hepatic fibrosis	OMIM:614091
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus	OMIM:618060
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Kyphosis, Chronic pain, Impaired vibration sensation in the lower limbs, Gait ataxia, Positive Ro...	ORPHA:88628
Neuraminidase Deficiency	Skeletal muscle atrophy, Ascites, Splenomegaly, Dysmetria, Cardiomegaly, Hepatomegaly, Muscle wea...	OMIM:256550
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Obesity, Hypertriglyceridemia	ORPHA:209902
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Limb hypertonia, Kyphosis	ORPHA:500180
Syndromic Diarrhea	Hepatic fibrosis, Abnormality of the liver, Splenomegaly, Hepatoblastoma, Cirrhosis, Hepatomegaly...	ORPHA:84064
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Poor head control, Hepatic fibrosis, Macroglossia, Cholestasis, Hepatosplenomegaly, Congenital he...	OMIM:266920
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Hypocalcemia, Ventricular septal defect, Hydronephrosis, Atrial septal defect...	ORPHA:163979
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Muscular dystrophy, Gait disturbance, Kyphosis	ORPHA:1875
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	OMIM:619463
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Tachypnea	OMIM:267450
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Unsteady gait, Scoliosis, Kyphosis, Ataxia	OMIM:300861
Hemifacial Atrophy, Progressive	Trigeminal neuralgia, Kyphosis, Ataxia	OMIM:141300
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Elevated circulating hepatic transaminase concentration, Contractures of the large joints, Respir...	ORPHA:329178
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea	OMIM:263000
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Splenomegaly, Elevated hepatic iron concentration, ...	OMIM:615234
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Increased variability in muscle fiber diameter, Elevated circulating hepatic transaminase concent...	ORPHA:17
Histiocytoid Cardiomyopathy	Exercise intolerance, Hypoglycemia, Cardiomegaly, Tachypnea, Hepatomegaly	ORPHA:137675
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Neonatal death, Hydronephrosis, Urethral atresia, Transposition of...	OMIM:314390
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Ascites, Hypocholesterolemia, Splenomegaly, Short neck, Hepatomegaly, Kyphosis	OMIM:608776
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Conjunctiv...	ORPHA:447
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Mitochondrial Myopathy And Sideroblastic Anemia	Scoliosis, Kyphosis, Myopathy, Generalized limb muscle atrophy	ORPHA:2598
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Minicore myopathy, Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Sh...	ORPHA:178148
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia	OMIM:248360
Aredyld Syndrome	Type I diabetes mellitus, Type II diabetes mellitus, Splenomegaly, Hepatomegaly, Scoliosis	ORPHA:1133
Mitochondrial Complex I Deficiency, Nuclear Type 15	Flexion contracture, Kyphosis, Myopathy	OMIM:618237
Ogden Syndrome	Secundum atrial septal defect, Umbilical hernia, Hyperbilirubinemia, Inguinal hernia, Patent fora...	OMIM:300855
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Hyperbilirubinemia, Splenomegaly	ORPHA:288
Complete Atrioventricular Septal Defect	Intercostal retractions, Postexertional symptom exacerbation, Cardiomegaly, Tachypnea, Hepatomega...	ORPHA:1329
Cockayne Syndrome Type 2	Difficulty walking, Gait disturbance, Limb hypertonia, Ataxia, Hepatomegaly, Flexion contracture,...	ORPHA:90322
Winchester Syndrome	Kyphosis	OMIM:277950
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ...	OMIM:609813
Diffuse Neonatal Hemangiomatosis	Ascites, Hepatomegaly, Hypercalcemia	ORPHA:2123
Degcags Syndrome	Chronic kidney disease, Hepatosplenomegaly, Hyperbilirubinemia, Ventricular septal defect, Abnorm...	OMIM:619488
Short Syndrome	Insulin resistance, Cataract, Insulin-resistant diabetes mellitus, Megalocornea, Hyperglycemia, G...	OMIM:269880
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Failure to thrive, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Exercise intolerance, Glycosuria, Decreased liver function, Respiratory distress, Weakness of fac...	OMIM:220110
Typhoid	Myalgia, Splenomegaly, Arthralgia, Fatigue, Ataxia, Hepatomegaly, Abdominal pain	ORPHA:99745
Bardet-Biedl Syndrome 20	Obesity, Astigmatism, Proteinuria, Hypercholesterolemia, Atrial septal defect, Micropenis	OMIM:619471
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Elevated circulating aspartate aminotransferase c...	OMIM:615595
Combined Oxidative Phosphorylation Defect Type 39	Tip-toe gait, Loss of ambulation, Limb hypertonia, Poor head control, Neonatal hypoglycemia, Cong...	ORPHA:565624
Peroxisome Biogenesis Disorder 9B	Ataxia, Elevated circulating phytanic acid concentration, Cardiomyopathy, Cataract	OMIM:614879
Sialidosis Type 1	Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Splenomegaly, Gait disturbance, A...	ORPHA:812
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Fatigable weakness of swallowing muscles, Glycosuria, Decreased liver function, Generalized muscl...	ORPHA:436271
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Hip contracture, Knee flexion contracture, Thoracolumbar scoliosis, Kyphosis	OMIM:313420
Borjeson-Forssman-Lehmann Syndrome	Kyphosis, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis	OMIM:301900
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I...	OMIM:300971
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Progressive extrapyramidal muscular rigidity, Axial dystonia, Tremor, Dystonia, Pa...	ORPHA:240071
Mucopolysaccharidosis, Type Iva	Platyspondyly, Hypoplasia of the odontoid process, Kyphosis, Short neck, Lumbar kyphosis, Hyperlo...	OMIM:253000
Leigh Syndrome	Hepatic failure, Skeletal muscle atrophy, Hypoglycemia, Multiple joint contractures, Myopathy, Di...	ORPHA:506
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia, Tetralogy of Fallot, Vesicoureteral reflux, Mitral stenosis, Patent ...	ORPHA:163956
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Tachypnea, Intraalveolar phospholipid accumulation, Right ventricular hypertrophy	ORPHA:217563
Parkinson Disease 23, Autosomal Recessive Early-Onset	Spasticity, Resting tremor, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign	OMIM:616840
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620125
Citrullinemia, Classic	Hyperammonemia, Hyperglutaminemia, Cirrhosis, Lethargy, Hypoargininemia, Ataxia, Hepatomegaly, El...	OMIM:215700
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Fractured rib, Osteopenia, Umbilical hernia, Recurrent fractures, Ingu...	OMIM:618188
Glycogen Storage Disease Due To Acid Maltase Deficiency	Lower limb muscle weakness, Difficulty walking, Generalized muscle weakness, Elevated circulating...	ORPHA:365
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia	OMIM:268150
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypoglycemia, Hyperglycemia, Hyperammonemia, Dysmetria, Microvesicular hepatic steatosis, Left ve...	OMIM:220111
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Decreased liver function, Hyperglycemia, Hyperglycinemia, Lethargy, Hypernatremia	OMIM:620423
Cranioectodermal Dysplasia 2	Hyperbilirubinemia, Renal insufficiency, Inguinal hernia, Patent foramen ovale, Splenomegaly, Joi...	OMIM:613610
Cardiomyopathy, Familial Restrictive, 6	Ascites, Hepatomegaly, Portal vein hypoplasia, Hepatic artery hyperplasia	OMIM:619433
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re...	OMIM:130650
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Type I diabetes mellitus, Ataxia	OMIM:560000
Temple Syndrome	Type II diabetes mellitus, Recurrent hypoglycemia	ORPHA:254516
High Altitude Pulmonary Edema	Chest pain, Exercise intolerance, Tachypnea	ORPHA:330012
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Generalized dystonia, Intention tremor, Tremor, Progressive spastic quadriple...	OMIM:312080
Meacham Syndrome	Hypoplastic left heart, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Horseshoe kidney...	OMIM:608978
Silver-Russell Syndrome 1	Fasting hypoglycemia, Hepatocellular carcinoma	OMIM:180860
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Papillary renal cell carcinoma, Mitral valve calc...	ORPHA:363618
Gracile Syndrome	Decreased transferrin saturation, Renal Fanconi syndrome, Elevated hepatic iron concentration, In...	ORPHA:53693
Glycogen Storage Disease Ic	Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Hyperuricemia, Hepatoblastoma, Hepatomegaly, ...	OMIM:232240
Surfactant Metabolism Dysfunction, Pulmonary, 4	Tachypnea, Intraalveolar phospholipid accumulation	OMIM:300770
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Cataract, Iris coloboma, Broad-based gait, Falls, Failure to thrive, Tip-toe gait, Osteomyelitis,...	OMIM:619475
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Cataract, Limitation of joint mobility, Hyperlipidemia, Acroosteolysis of dis...	ORPHA:90153
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Ketonuria, Glycosuria, Hyperglycemia, Athetosis, Small for gestational age	OMIM:618857
Pulmonary Alveolar Microlithiasis	Chest pain, Tachypnea, Fatigue, Hepatomegaly, Increased circulating surfactant protein level	ORPHA:60025
Multifocal Atrial Tachycardia	Tachypnea	ORPHA:3282
Acute Adrenal Insufficiency	Hypoglycemia, Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Muscle weakness, Increase...	ORPHA:95409
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis, Cardiomegaly, Tach...	OMIM:618278
Proximal Renal Tubular Acidosis	Aminoaciduria, Cataract, Nephrocalcinosis, Band keratopathy, Glycosuria, Failure to thrive, Hyper...	ORPHA:47159
Dengue Fever	Hepatomegaly, Lethargy, Hypoproteinemia, Ascites	ORPHA:99828
Combined Oxidative Phosphorylation Deficiency 9	Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Hyperalaninemia...	OMIM:614582
Zimmermann-Laband Syndrome 3	Flexion contracture, Kyphosis	OMIM:618658
Congenital Tricuspid Valve Dysplasia	Cardiomegaly, Hepatomegaly, Tachypnea, Right ventricular hypertrophy	ORPHA:555874
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Scoliosis, Kyphosis	ORPHA:276630
Ethylene Glycol Poisoning	Hypocalcemia, Episodic respiratory distress, Flank pain, Tachypnea, Facial palsy, Ataxia, Hyperka...	ORPHA:31826
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Truncal ataxia, Gait ataxia, Recurrent hypoglycemia	OMIM:616817
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Failure to thrive, Abnormality of connective tissue, Weight loss, Keratocon...	ORPHA:79128
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dy...	OMIM:614381
Cardiomyopathy, Dilated, 2H	Tachypnea	OMIM:620203
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Elevated circulating C-reactive protein concentration, Generalized amyotrophy	OMIM:619423
Adams-Oliver Syndrome	Ascites, Cirrhosis, Portal hypertension, Congenital hepatic fibrosis	ORPHA:974
D-Glyceric Aciduria	Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Hypoglycemia	OMIM:220120
Parkinson Disease, Late-Onset	Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia	OMIM:168600
Primary Pulmonary Hypoplasia	Tachypnea, Apnea, Abnormal hemidiaphragm morphology	ORPHA:2257
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Inability to walk, Encopresis, Thoracolumbar scoliosis, Hyperlordosis, Ataxia, Hepatomegaly, Unst...	OMIM:618443
Papillorenal Syndrome	Chronic kidney disease, Cataract, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidne...	OMIM:120330
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Renal hypoplasia, Shoulder flexion contracture, Failure to thriv...	OMIM:210710
Macrophage Activation Syndrome	Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio...	ORPHA:158061
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Elevated circulating aspartate aminotransferase con...	OMIM:614034
Congenital Disorder Of Glycosylation, Type Ig	Lethargy, Hypocalcemia, Hypoglycemia	OMIM:607143
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Tremor, Ankle clonus, Babinski sign, Apraxia, Abnormal pyramidal sign, Orom...	ORPHA:52368
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Renal Cysts And Diabetes Syndrome	Hypospadias, Unilateral renal agenesis, Renal hypoplasia, Maturity-onset diabetes of the young, G...	OMIM:137920
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Episodic tachypnea	ORPHA:163961
Bartter Syndrome, Type 1, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ...	OMIM:601678
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis	OMIM:224230
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis	ORPHA:2031
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Spastic Paraplegia 9B, Autosomal Recessive	Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Tetraplegia	OMIM:616586
Nephronophthisis 11	Hepatic fibrosis	OMIM:613550
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration	ORPHA:79292
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis	OMIM:613989
Alg9-Cdg	Hypoplasia of the bladder, Abnormal heart morphology, Abnormal renal artery morphology, Ventricul...	ORPHA:79328
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Nephropathy, Hypocalcemia, Cataract	ORPHA:2238
Gaucher Disease Type 1	Splenic infarction, Elevated circulating CCL18 level, Cholelithiasis, Hepatic failure, Increased ...	ORPHA:77259
Arima Syndrome	Hepatic fibrosis, Hepatic steatosis, Cirrhosis, Ataxia, Hepatomegaly	OMIM:243910
Shigellosis	Hepatic failure, Hypoglycemia, Cholestasis, Rhabdomyolysis, Hyponatremia, Peritonitis, Splenic ab...	ORPHA:810
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating creatinine concentration, Hepatic cysts, Hypokalemia, Hepatomegaly, Jaundice...	OMIM:613095
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia	OMIM:201910
Autosomal Recessive Ataxia, Beauce Type	Impaired vibratory sensation, Skeletal muscle atrophy, Lower limb muscle weakness, Dysmetria, Gai...	ORPHA:88644
Orthostatic Hypotension 1	Hypomagnesemia, Weakness of facial musculature, Increased blood urea nitrogen, Elevated circulati...	OMIM:223360
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr...	ORPHA:90038
Serotonin Syndrome	Hepatic failure, Tachypnea, Rhabdomyolysis	ORPHA:43116
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Myoclonus, Tremor, Rigidi...	ORPHA:199351
Wars2-Related Combined Oxidative Phosphorylation Defect	Athetosis, Difficulty walking, Dysmetria, Limb hypertonia, Ataxia, Poor head control, Neonatal hy...	ORPHA:572798
Migraine, Familial Hemiplegic, 2	Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia	OMIM:602481
Parkinson Disease 20, Early-Onset	Involuntary movements, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia, Eyelid apraxia	OMIM:615530
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatomega...	OMIM:194380
Autism Spectrum Disorder Due To Auts2 Deficiency	Joint contracture of the hand, Congenital contracture, Arthrogryposis multiplex congenita, Joint ...	ORPHA:352490
O'Sullivan-Mcleod Syndrome	Tremor, Fasciculations	ORPHA:99965
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypospadias, Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Cranioectodermal Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failure, Hepatic cysts, Hypoc...	OMIM:218330
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Glucose intolerance, Biconcave vertebral bodies, Hypokalemia, Vertebral ...	OMIM:219090
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Prolonged neonatal jaundice, Hypoglycemia	OMIM:233600
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly	OMIM:615085
Alstrom Syndrome	Nephritis, Dilated cardiomyopathy, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsul...	OMIM:203800
Rett Syndrome	Skeletal muscle atrophy, Apnea, Gait ataxia, Gait apraxia, Truncal ataxia, Scoliosis, Kyphosis	OMIM:312750
3-Methylglutaconic Aciduria Type 7	Elevated circulating hepatic transaminase concentration, Neonatal hypoglycemia, Hepatic steatosis...	ORPHA:445038
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly	ORPHA:85414
Kaposiform Lymphangiomatosis	Fractures of the long bones, Osteolysis, Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, ...	ORPHA:464329
Mast Cell Sarcoma	Hepatomegaly, Fatigue, Splenomegaly	ORPHA:66661
Reynolds Syndrome	Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Calcinosis, Steatorrhea	OMIM:613471
Recurrent Respiratory Papillomatosis	Respiratory distress, Tachypnea	ORPHA:60032
Cold Agglutinin Disease	Splenomegaly, Arthralgia, Fatigue, Hepatomegaly, Back pain	ORPHA:56425
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Cataract, Failure to thrive, Umbilical hernia, Hypertrophic cardiomyopathy, Inguinal hernia, Hype...	OMIM:614052
Intellectual Disability-Developmental Delay-Contractures Syndrome	Congenital foot contractures, Distal amyotrophy, Scoliosis, Kyphosis	ORPHA:3454
Baralle-Macken Syndrome	Urinary incontinence, Kyphosis, Inability to walk	OMIM:619255
Mirage Syndrome	Hyponatremia, Hyperkalemia, Hypoplastic spleen, Hypoglycemia	OMIM:617053
Spondylometaphyseal Dysplasia, Kozlowski Type	Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra...	ORPHA:93314
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Opisthotonus, Hypertonia, Tremor	OMIM:250800
Glycerol Kinase Deficiency	Muscular dystrophy, Hypoglycemia, Chronic pancreatitis, Myopathy, Lethargy, Hypertriglyceridemia,...	OMIM:307030
Metatropic Dysplasia	Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Arthrogryposi...	OMIM:156530
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Hypomagnesemia, Hyperaldosteronism, Renal sodium wasting, Hypokalemia, P...	OMIM:612780
Trichohepatoenteric Syndrome 2	Hepatomegaly, Decreased circulating iron concentration, Cirrhosis, Chronic hepatitis	OMIM:614602
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Cataract, Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Large ...	ORPHA:500095
Adult-Onset Still Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circulating lipid co...	ORPHA:829
Infant Acute Respiratory Distress Syndrome	Tachypnea, Nasal flaring	ORPHA:70587
Smith-Kingsmore Syndrome	Diastasis recti, Hypoglycemia	OMIM:616638
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc	OMIM:601979
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Jaundice, Hyperkalemia, Hypoglycemia	ORPHA:90790
Immunodeficiency 32B	Hepatomegaly, Splenomegaly, Hypoalbuminemia	OMIM:226990
Autosomal Dominant Progressive External Ophthalmoplegia	Ataxia, Cataract, Dilated cardiomyopathy, Failure to thrive, Glucose intolerance, Gait ataxia, El...	ORPHA:254892
Gm1-Gangliosidosis, Type Ii	Platyspondyly, Thoracolumbar kyphosis, Splenomegaly, Hypoplastic vertebral bodies, Beaking of ver...	OMIM:230600
Mucolipidosis Iii Alpha/Beta	Increased serum beta-hexosaminidase, Spondylolisthesis, Hepatomegaly, Scoliosis, Kyphosis	OMIM:252600
Premature Aging Syndrome, Okamoto Type	Osteoporosis, Cataract, Diabetes mellitus	OMIM:601811
Sickle Cell Anemia	Osteoporosis, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Ost...	ORPHA:232
Mirizzi Syndrome	Dark urine, Hyperbilirubinemia	ORPHA:521219
Griscelli Syndrome Type 2	Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly	ORPHA:79477
Tenorio Syndrome	Hypoinsulinemia, Macroglossia, Gait disturbance, Hypoglycemia	OMIM:616260
Hurler-Scheie Syndrome	Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fingers, Splenome...	OMIM:607015
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Increased ...	OMIM:615954
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated circulating hepatic transaminase concentration, Cervical spinal canal stenosis, Small ce...	ORPHA:397715
Meckel Syndrome 14	Hepatic fibrosis	OMIM:619879
Chronic Pneumonitis Of Infancy	Respiratory distress, Tachypnea, Intercostal retractions	ORPHA:91359
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Fasting hype...	ORPHA:769
Gm1 Gangliosidosis	Platyspondyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Hepatosplenomegaly...	ORPHA:354
Srd5A3-Cdg	Elevated circulating hepatic transaminase concentration, Kyphosis, Abnormal sacrum morphology, At...	ORPHA:324737
Addison Disease	Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Hyperuricemia, Hyponatremia, Decreased...	ORPHA:85138
Cocaine Intoxication	Respiratory distress, Chest pain, Rhabdomyolysis, Elevated circulating creatine kinase concentrat...	ORPHA:90068
Bardet-Biedl Syndrome	Insulin resistance, Hepatic fibrosis, Ataxia, Elevated circulating hepatic transaminase concentra...	ORPHA:110
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef...	ORPHA:85451
Ck Syndrome	Kyphosis, Scoliosis, Hyperlordosis	OMIM:300831
Post-Traumatic Pituitary Deficiency	Hypoglycemia	ORPHA:95619
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital diaph...	OMIM:194080
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Splenomegaly, Arthralgia, Elevated circulating C-reactive protein concentra...	OMIM:612852
Poems Syndrome	Hyperesthesia, Visceromegaly, Ascites, Sclerotic vertebral endplates, Paresthesia, Splenomegaly, ...	ORPHA:2905
Brown-Vialetto-Van Laere Syndrome 1	Skeletal muscle atrophy, Respiratory distress, Gait imbalance, Hand muscle atrophy, Ataxia, Trunc...	OMIM:211530
Arthrogryposis, Distal, Type 5	Firm muscles, Exercise intolerance, Decreased muscle mass, Distal arthrogryposis, Congenital fing...	OMIM:108145
3-Methylglutaconic Aciduria, Type Viib	Hepatic steatosis, Ataxia, Flexion contracture, Neonatal hypoglycemia, Choreoathetosis	OMIM:616271
Hypothyroidism, Congenital, Nongoitrous, 2	Hyperbilirubinemia, Increased circulating thyroglobulin concentration, Umbilical hernia	OMIM:218700
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Multiple joint contractures, Central...	OMIM:618291
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Platyspondyly, Type I diabetes mellitus, Hypoplasia of the odontoid process, Insulin-resistant di...	OMIM:226980
Wieacker-Wolff Syndrome	Distal amyotrophy, Arthrogryposis multiplex congenita, Apnea, Congenital foot contractures, Short...	OMIM:314580
Intellectual Developmental Disorder, Autosomal Dominant 26	Arthrogryposis multiplex congenita, Scoliosis, Kyphosis	OMIM:615834
Metatropic Dysplasia	Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camptodactyly of finger, A...	ORPHA:2635
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Nemaline bodies, Hypoglycemia, Elbow contracture	OMIM:620275
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Cataract, Renal insufficiency, Hypocalcemia, Mitral valve prolapse	ORPHA:1563
Oculoskeletodental Syndrome	Elbow flexion contracture, Hypercalcemia, Hypocalcemia, Splenomegaly, Hepatomegaly, Macroglossia,...	OMIM:618440
Congenital Myopathy 22B, Severe Fetal	Generalized amyotrophy, Hypoplasia of the musculature, Shoulder flexion contracture, Ascites, Res...	OMIM:620369
Holocarboxylase Synthetase Deficiency	Tachypnea, Hyperammonemia	OMIM:253270
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Apnea, Scoliosis, Kyphosis	OMIM:619797
Yellow Fever	Acute kidney injury, Pancreatic hyperplasia, Anuria, Elevated circulating creatinine concentratio...	ORPHA:99829
Surfactant Metabolism Dysfunction, Pulmonary, 1	Tachypnea, Apnea, Intraalveolar phospholipid accumulation	OMIM:265120
Mucopolysaccharidosis, Type Ivb	Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis, Ataxia, Hepatomegaly, Cervical ...	OMIM:253010
Fucosidosis	Anterior beaking of lumbar vertebrae, Decreased muscle mass, Abnormality of the gallbladder, Card...	ORPHA:349
Argininemia	Portal fibrosis, Spastic gait, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Hyperarginine...	OMIM:207800
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Kyphosis	ORPHA:2786
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Atypical scarring of skin, Decreased c...	ORPHA:89842
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Exoc...	OMIM:620005
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Elevated circulating palmitoleylcarnitine concentration, Hypoglycemia, Hyperammonemia, Hypomethio...	ORPHA:79282
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h...	ORPHA:131
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Insulin resistance, Decreased HDL cholesterol concentration, Myalgia, Splenomegaly, Hepatic steat...	ORPHA:280365
Double Outlet Right Ventricle	Tachypnea, Hypocalcemia	ORPHA:3426
Wieacker-Wolff Syndrome, Female-Restricted	Inability to walk, Hip contracture, Weakness of facial musculature, Short neck, Achilles tendon c...	OMIM:301041
Glucocorticoid Resistance, Generalized	Hypoglycemia	OMIM:615962
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Tachypnea	OMIM:245050
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Increased circulating renin level	ORPHA:90791
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Broad-based gait, Abnormality of the spleen, Hepatosplenomegaly...	ORPHA:2072
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hyperaldosteronism, Increased urinary potassiu...	OMIM:607364
Triosephosphate Isomerase Deficiency	Cholelithiasis, Skeletal muscle atrophy, Respiratory distress, Cholecystitis, Splenomegaly, Myopa...	OMIM:615512
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoglycemia, Contracture of the proximal interphalangeal joint of the 4th toe, Congenital muscul...	ORPHA:457279
Mcdonough Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Kyphosis	ORPHA:2471
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Respiratory distress...	OMIM:183900
Shashi-Pena Syndrome	Hypoglycemia, Cervical C2/C3 vertebral fusion, Limb hypertonia, Scoliosis, Kyphosis	OMIM:617190
Steinert Myotonic Dystrophy	Insulin resistance, Posterior subcapsular cataract, Dilated cardiomyopathy, Falls, Inability to w...	ORPHA:273
Basilicata-Akhtar Syndrome	Camptodactyly, Neonatal hypoglycemia	OMIM:301032
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Babinski ...	OMIM:614298
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Glucocorticoid Deficiency 2	Hypoglycemia, Recurrent hypoglycemia	OMIM:607398
Alexander Disease	Kyphosis, Recurrent singultus, Chorea, Short neck, Facial palsy, Gait disturbance, Hyperlordosis,...	ORPHA:58
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Gait ataxia, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Exaggerated star...	OMIM:618056
Transcobalamin Ii Deficiency	Lethargy, Hyperhomocystinemia, Ataxia, Hepatomegaly, Muscle weakness	OMIM:275350
19P13.12 Microdeletion Syndrome	Arthrogryposis multiplex congenita, Hyperlipidemia, Hepatic steatosis, Short neck, Scoliosis, Kyp...	ORPHA:254346
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Scoliosis, Hyperlordosis, Sacral dimple	OMIM:615761
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia	ORPHA:1578
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Tremor	OMIM:613239
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Neonatal hypoglycemia, Gait disturbance, Diastasis recti	ORPHA:457485
Combined Oxidative Phosphorylation Deficiency 3	Hyperammonemia, Rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyponatremia,...	OMIM:610505
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Flexion contracture, Diabetes mellitus, Pancr...	OMIM:609069
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Contracture of the proximal interphalangeal joint of the 2nd finger, Contracture of the proximal ...	OMIM:130060
Vipoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Ascites, Hypercalcemia, Neoplasm of the pa...	ORPHA:97282
Acute Liver Failure	Elevated circulating hepatic transaminase concentration, Hepatitis, Hypoglycemia, Hepatocellular ...	ORPHA:90062
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Lethargy, Decreased serum zinc, Ataxia, Hepatomegaly	OMIM:201100
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Macroglossia, Distal lower limb amyotrophy, Gait ataxia, Kyphosis	OMIM:300354
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Hypoglycemia, Inability to walk by childhood/adolescence, Torticollis, Athetosis, Choreoathetosis	OMIM:620224
Fabry Disease	Nephropathy, Hematuria, Nephrotic syndrome, Cataract, Hypertrophic cardiomyopathy, Renal insuffic...	ORPHA:324
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Increased serum...	OMIM:241200
Perry Syndrome	Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia	OMIM:168605
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Distal amyotrophy, Inability to walk, Flexion contracture, Scoliosis, Kyphosis	OMIM:609541
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Pelizaeus-Merzbacher Disease	Bowel incontinence, Gait disturbance, Ataxia, Scoliosis, Kyphosis, Choreoathetosis	ORPHA:702
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Small for gestational age, Nephrocalcinosis, Failure...	ORPHA:89938
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Dilatation of the ventricular cavity, Cataract, Cardiomyopathy, Elevated circulating creatine kin...	ORPHA:363623
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology	ORPHA:1332
Multiple Endocrine Neoplasia, Type I	Insulinoma, Pancreatic islet cell adenoma, Hypercalcemia, Hypoglycemia	OMIM:131100
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Reactive hypoglycemia	OMIM:600955
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Tachypnea, Apnea, Intraalveolar phospholipid accumulation	OMIM:610921
Somatostatinoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Ascites, Hypercalcemia, Neoplasm of the pa...	ORPHA:97283
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl...	ORPHA:300298
Hall-Riggs Syndrome	Platyspondyly, Scoliosis, Kyphosis, Irregular vertebral endplates	OMIM:234250
Schaaf-Yang Syndrome	Inability to walk, Camptodactyly, Flexion contracture, Scoliosis, Arthrogryposis multiplex congen...	OMIM:615547
Spondyloepimetaphyseal Dysplasia, Shohat Type	Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosis, Splenomegaly, Narrow vertebral...	OMIM:602557
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Tracheomalacia, Biventricular hypertrophy, Te...	OMIM:618280
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro...	OMIM:615947
Immunodeficiency, Common Variable, 10	Hypoglycemia	OMIM:615577
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement, Nephrocalcinosis, Hypophosphatemic rickets	OMIM:614473
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Scoliosis, Kyphosis	ORPHA:1548
Kleefstra Syndrome 2	Scoliosis, Kyphosis	OMIM:617768
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Gait disturbance, Scoliosis, Kyphosis	ORPHA:2181
Crisponi Syndrome	Camptodactyly of finger, Flexion contracture, Sudden cardiac death, Scoliosis, Kyphosis	ORPHA:1545
Orofaciodigital Syndrome I	Hepatic fibrosis, Pancreatic cysts, Hepatic cysts	OMIM:311200
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Elevated hepatic iron concentration	OMIM:206100
Mucopolysaccharidosis, Type Vii	Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo...	OMIM:253220
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia	ORPHA:397590
Zimmermann-Laband Syndrome 2	Macroglossia, Short neck, Kyphosis	OMIM:616455
Adult-Onset Autosomal Dominant Leukodystrophy	Upper limb postural tremor, Spasticity, Tetraparesis, Gait ataxia, Action tremor, Dysmetria, Trem...	ORPHA:99027
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Periportal fibrosis, Splenomegaly, Ascites	OMIM:269860
Johanson-Blizzard Syndrome	Hypospadias, Dilated cardiomyopathy, Urethrovaginal fistula, Failure to thrive, Conjunctival icte...	OMIM:243800
Pituitary Hormone Deficiency, Combined, 2	Hypoglycemic seizures, Neonatal hypoglycemia	OMIM:262600
Perlman Syndrome	Visceromegaly, Hypoglycemia, Ascites, Congenital diaphragmatic hernia, Pancreatic islet-cell hype...	OMIM:267000
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Apnea, Facial palsy, Scoliosis, Kyph...	OMIM:617143
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Elevated ...	ORPHA:99826
Tafro Syndrome	Ascites, Hepatosplenomegaly, Splenomegaly, Elevated circulating C-reactive protein concentration,...	ORPHA:457077
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Cataract, Rickets, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Recurrent ...	OMIM:268315
Idiopathic Juvenile Osteoporosis	Vertebral compression fracture, Gait disturbance, Kyphosis, Bone pain	ORPHA:85193
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholelithiasis, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Hepatomegaly	OMIM:301066
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Hepatosplenome...	OMIM:615688
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Pancreatic fibrosis	OMIM:263520
Atrial Septal Defect, Ostium Primum Type	Left ventricular hypertrophy, Fatigue, Exercise intolerance, Tachypnea	ORPHA:99106
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Spastic paraplegia, Spasticity, Dysmetria, Tremor, Babinski sign, Ataxia	OMIM:618527
Pearson Syndrome	Ataxia, Cataract, Glycosuria, Cardiomyopathy, Hypomagnesemia, Abnormal heart morphology, Renal in...	ORPHA:699
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Increased circulating free fatty acid level	OMIM:610768
Gm1-Gangliosidosis, Type I	Splenomegaly, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Hepatomegaly...	OMIM:230500
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Limitation of joint mobility, Insulin-resistan...	ORPHA:79474
Glucocorticoid Deficiency 1	Recurrent hypoglycemia	OMIM:202200
Sjögren-Larsson Syndrome	Scoliosis, Kyphosis	ORPHA:816
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Tachypnea, Intraalveolar phospholipid accumulation	OMIM:610913
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Hip contr...	OMIM:259450
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Hypoglycemia, Abdominal wall muscle weakness, Myopathy, Muscle weakness	ORPHA:109
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Progressive gait ataxia, Abnormal pyramida...	OMIM:606002
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:99226
Microcephalic Primordial Dwarfism, Montreal Type	Scoliosis, Kyphosis, Vertebral segmentation defect	ORPHA:2617
Turner Syndrome	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:881
Genitopalatocardiac Syndrome	Abnormal mesentery morphology, Abnormality of the gallbladder, Congenital diaphragmatic hernia, S...	ORPHA:2075
Klatskin Tumor	Abdominal pain, Fatigue, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Familial Glucocorticoid Deficiency	Hypoglycemic seizures, Ketotic hypoglycemia, Hyperkalemia, Hyponatremia	ORPHA:361
Jaberi-Elahi Syndrome	Broad-based gait, Inability to walk, Gait ataxia, Dysmetria, Scoliosis, Kyphosis, Choreoathetosis	OMIM:617988
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Kyphosis, Lumbar hyperlordosis, Back pain, Short neck, Knee pain, Waddling gait, C...	ORPHA:94068
Hip Dysplasia, Beukes Type	Scoliosis, Kyphosis	ORPHA:2114
Oculodentodigital Dysplasia	Hypoglycemia, Camptodactyly of finger, Gait disturbance, Ataxia, Muscle weakness	ORPHA:2710
Sheehan Syndrome	Hyponatremia, Muscle weakness, Hypoglycemia	ORPHA:91355
Intellectual Developmental Disorder, Autosomal Dominant 45	Neonatal hypoglycemia	OMIM:617600
Hypomelanosis Of Ito	Scoliosis, Kyphosis	OMIM:300337
Coronary Arterial Fistula	Cardiomegaly, Tachypnea	ORPHA:2041
Orofaciodigital Syndrome Type 6	Episodic tachypnea, Apnea, Gait disturbance, Ataxia	ORPHA:2754
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent falls, Chor...	OMIM:612716
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Failure to thrive, Recurrent urinary tract infections, Abnormal heart morpholo...	OMIM:615873
Joubert Syndrome 2	Episodic tachypnea, Central apnea, Ataxia	OMIM:608091
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,...	OMIM:313400
Williams Syndrome	Synostosis of joints, Megalocornea, Type II diabetes mellitus, Mitral valve prolapse, Ventricular...	ORPHA:904
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Generalized muscular appearance from bir...	OMIM:269700
Mitochondrial Dna-Associated Leigh Syndrome	Hepatic failure, Chorea, Apnea, Gait ataxia, Ragged-red muscle fibers, Episodic respiratory distr...	ORPHA:255210
Alg12-Cdg	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia,...	ORPHA:79324
Congenital Syphilis	Prolonged neonatal jaundice, Hepatosplenomegaly, Pancreatitis, Hypoglycemia	ORPHA:499009
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Scoliosis, Kyphosis	ORPHA:1858
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Generalized muscular appearance from bir...	OMIM:608594
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Moderate albuminuria, Ketonuria, Glycosuria, Failur...	ORPHA:99885
Sotos Syndrome	Prolonged neonatal jaundice, Neonatal hypoglycemia, Glucose intolerance	OMIM:117550
Proteasome-Associated Autoinflammatory Syndrome 4	Skeletal muscle atrophy, Splenomegaly, Myositis, Hepatomegaly, Flexion contracture	OMIM:619183
Holoprosencephaly	Hypoglycemia, Abnormality of the spleen, Congenital diaphragmatic hernia, Hyponatremia, Diabetes ...	ORPHA:2162
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Scoliosis, Kyphosis, Camptodactyly of finger	ORPHA:137834
Mucopolysaccharidosis, Type Ii	Hepatosplenomegaly, Splenomegaly, Short neck, Hepatomegaly, Macroglossia, Flexion contracture, Ky...	OMIM:309900
Pituitary Apoplexy	Hyponatremia, Hypoglycemia	ORPHA:95613
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camptodactyly of finger, S...	ORPHA:628
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Elbow...	ORPHA:508533
Endocrine-Cerebroosteodysplasia	Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys	OMIM:612651
Proteus Syndrome	Cataract, Long penis, Central heterochromia, Cranial hyperostosis, Abnormal dental enamel morphol...	ORPHA:744
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Skeletal muscle atrophy, Increased circulating ferritin ...	OMIM:222700
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Fatigue, Scapular winging, Scoliosis, Kyphosis	OMIM:617061
Schwartz-Jampel Syndrome	Platyspondyly, Flexion contracture of toe, Skeletal muscle atrophy, Arthrogryposis multiplex cong...	ORPHA:800
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Patent foramen ovale, Atrial septal defect, Unconjugated hyperbilirubinemia, Iris coloboma, Right...	OMIM:620186
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly of finger, Abnormal ci...	ORPHA:2215
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Platyspondyly, Difficulty walking, Hypocalcemia, Ataxia, Kyphosis	OMIM:618476
Weismann-Netter Syndrome	Scoliosis, Horizontal sacrum, Kyphosis	OMIM:112350
Hemophagocytic Syndrome Associated With An Infection	Ataxia, Elevated circulating hepatic transaminase concentration, Increased circulating ferritin c...	ORPHA:158048
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ...	OMIM:607326
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia	OMIM:613091
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormality of the vertebral column, Abdominal situs inversus, Bone pain, Hemivertebrae, Abnormal...	ORPHA:2062
Hurler Syndrome	Hypoplasia of the odontoid process, Hepatosplenomegaly, Splenomegaly, Biconcave vertebral bodies,...	OMIM:607014
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Intraalveolar phospholipid accumulation, Hepatitis, Splenomegaly, Myositis, Elevated circulating ...	OMIM:620565
Hemihyperplasia-Multiple Lipomatosis Syndrome	Multiple lipomas, Lipoatrophy, Enlarged kidney, Nephroblastoma	ORPHA:276280
Glucagonoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Ascites, Hypercalcemia, Neoplasm of the pa...	ORPHA:97280
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Splenomegaly, Myositis, Hypertriglycerid...	OMIM:617591
Autosomal Recessive Spondylocostal Dysostosis	Abnormal form of the vertebral bodies, Camptodactyly of finger, Congenital diaphragmatic hernia, ...	ORPHA:2311
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia, Ureteropelvic junction obstruction, Enamel hypoplasia, Atrial septal...	OMIM:300896
Pseudoachondroplasia	Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis...	OMIM:177170
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Scoliosis, Kyphosis	OMIM:259440
Aniridia 1	Cataract, Increased proinsulin:insulin ratio, Ectopia lentis, Ectopia pupillae, Hypoplasia of the...	OMIM:106210
Classical-Like Ehlers-Danlos Syndrome Type 2	Impaired temperature sensation, Thoracic scoliosis, Kyphoscoliosis, Hypertriglyceridemia, Diabete...	ORPHA:536532
Pierson Syndrome	Cataract, Hyperechogenic kidneys, Hypoplasia of the iris, Stage 5 chronic kidney disease, Rieger ...	OMIM:609049
Cockayne Syndrome	Urinary incontinence, Elevated circulating hepatic transaminase concentration, Skeletal muscle at...	ORPHA:191
Omenn Syndrome	Hepatomegaly, Hypoproteinemia, Splenomegaly	OMIM:603554
Mosaic Trisomy 9	Camptodactyly of finger, Short neck, Hemivertebrae, Asplenia, Scoliosis, Abnormal liver lobulation	ORPHA:99776
Pituitary Stalk Interruption Syndrome	Hypoglycemia	ORPHA:95496
Becker Nevus Syndrome	Spina bifida occulta, Scoliosis, Kyphosis, Shoulder girdle muscle atrophy	ORPHA:64755
Desbuquois Dysplasia 1	Platyspondyly, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Waddling gait	OMIM:251450
Silver-Russell Syndrome	Insulin resistance, Decreased muscle mass, Recurrent hypoglycemia	ORPHA:813
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Hyponatremia, Hyperkalemia, Neonatal hypoglycemia...	ORPHA:168558
Arthrogryposis, Distal, Type 4	Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis, Torticollis, Camptodac...	OMIM:609128
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia	OMIM:608624
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Joint contracture, Hypoglycemia	OMIM:618005
Menkes Disease	Prolonged neonatal jaundice, Aplasia/Hypoplasia of the abdominal wall musculature, Muscle weaknes...	ORPHA:565
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Glutaryl-Coa Dehydrogenase Deficiency	Athetosis, Fasting hypoglycemia, Ataxia	ORPHA:25
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Flexion contracture, Hypoglycemia	OMIM:616007
4Q21 Microdeletion Syndrome	Short neck, Scoliosis, Kyphosis	ORPHA:238750
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Hyponatremia, Hyperkalemia, Neonatal hypoglycemia...	ORPHA:289548
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Scoliosis, Kyphosis	OMIM:300676
Multiple System Atrophy 1, Susceptibility To	Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia	OMIM:146500
Camurati-Engelmann Disease	Skeletal muscle atrophy, Abnormality of the vertebral column, Splenomegaly, Hyperlordosis, Ataxia...	ORPHA:1328
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Hyperuricemia	ORPHA:261222
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Facial hypotonia, Abnormality of muscle size, Scoliosis, Kyphosis	ORPHA:364028
Bruck Syndrome	Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis, Kyphosis	ORPHA:2771
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Joint contracture of the 5th finger, Scoliosis, Kyphosis, Camptodactyly of finger	ORPHA:1883
Simpson-Golabi-Behmel Syndrome	Polysplenia, Hypoglycemia, Camptodactyly of finger, Splenomegaly, Pancreatic islet-cell hyperplas...	ORPHA:373
Familial Mediterranean Fever	Chest pain, Myalgia, Splenomegaly, Episodic abdominal pain, Peritonitis, Arthralgia, Elevated cir...	OMIM:249100
Meckel Syndrome	Accessory spleen, Congenital hepatic fibrosis, Pancreatic fibrosis, Asplenia, Pancreatic cysts, C...	ORPHA:564
Mucopolysaccharidosis Type 6	Splenomegaly, Short neck, Macroglossia, Kyphosis, Ovoid vertebral bodies	ORPHA:583
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short neck, Kyphosis, Hyperlordosis, Fused cervical vertebrae	ORPHA:2522
Rhizomelic Syndrome, Urbach Type	Short neck, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3098
Mucopolysaccharidosis Type 4	Platyspondyly, Spinal canal stenosis, Short neck, Gait disturbance, Hyperlordosis, Scoliosis, Kyp...	ORPHA:582
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis	OMIM:615433
Urban-Rogers-Meyer Syndrome	Short neck, Kyphosis, Camptodactyly of finger, Flexion contracture of toe	ORPHA:3409
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Congenital muscular torticollis, Hypoplastic vertebral bod...	ORPHA:2916
X-Linked Dominant Chondrodysplasia Punctata	Flexion contracture, Neonatal hypoglycemia	ORPHA:35173
Thanatophoric Dysplasia	Platyspondyly, Abnormal sacroiliac joint morphology, Kyphosis	ORPHA:2655
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
15Q24 Microdeletion Syndrome	Congenital diaphragmatic hernia, Scoliosis, Kyphosis	ORPHA:94065
Stickler Syndrome, Type I	Platyspondyly, Spondylolisthesis, Morbus Scheuermann, Beaking of vertebral bodies, Arthralgia, Sc...	OMIM:108300
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Prolonged neonatal jaundice, Macroglossia, Lethargy, Hypoglycemia	ORPHA:226307
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Gait ataxia, Urinary incontinence, Scoliosis, Hypercalcemia, Kyphosis	ORPHA:476126
Clark-Baraitser syndrome	Scoliosis, Kyphosis	OMIM:300602
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Difficulty walking, Lumbar hyperlordosis, Gait ataxia, Kyphoscoliosis, Facial hypotonia, Neonatal...	ORPHA:457359
Ruvalcaba Syndrome	Scoliosis, Kyphosis	OMIM:180870
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Respiratory distress, Lumbar hyperlordosis, Central apnea, Urinary incontinence, K...	OMIM:616482
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Elbow flexion contracture, Inability to walk, Hip contracture, Unsteady gait, Scoliosis, Kyphosis	OMIM:618493
Simpson-Golabi-Behmel Syndrome, Type 1	Total anomalous pulmonary venous return, Duplication of renal pelvis, Cardiomyopathy, Umbilical h...	OMIM:312870
Marden-Walker Syndrome	Joint contracture of the hand, Congenital contracture, Decreased muscle mass, Short neck, Camptod...	OMIM:248700
Pmm2-Cdg	Insulin resistance, Hepatic fibrosis, Hypoalbuminemia, Elevated circulating hepatic transaminase ...	ORPHA:79318
Emanuel Syndrome	Congenital diaphragmatic hernia, Torticollis, Joint contracture, Scoliosis, Kyphosis, Sacral dimple	OMIM:609029
Pycnodysostosis	Spondylolysis, Chronic pain, Hepatosplenomegaly, Spondylolisthesis, Hyperlordosis, Scoliosis, Kyp...	ORPHA:763
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Macroglossia, Hypoglycemia	OMIM:614501
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Platyspondyly, Thoracolumbar kyphosis, Elbow flexion contracture, Kyphoscoliosis, Abnormal curvat...	ORPHA:93360
Dyggve-Melchior-Clausen Disease	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v...	OMIM:223800
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Spasticity, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abnormal pyra...	OMIM:234200
Atelis Syndrome 2	Sacral dimple, Hyperinsulinemia, Kyphosis, Dysmetria	OMIM:620185
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia, Hypoglycemia	ORPHA:786
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Inability to walk, Splenic cyst, Cardiomegaly, Pancreatitis, Limb ...	OMIM:620371
Postencephalitic Parkinsonism	Camptocormia, Akinesia, Paresthesia, Kyphosis	ORPHA:97349
Pelger-Huet Anomaly	Foot dorsiflexor weakness, Kyphosis, Lower limb hypertonia	OMIM:169400
Trisomy 20P	Platyspondyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Vertebral segmenta...	ORPHA:261318
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Scoliosis, Kyphosis	ORPHA:79107
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Kyphosis, Knee flexion contracture, Thoracic scoliosis	OMIM:603387
Heart Defects, Congenital, And Other Congenital Anomalies	Total absence of the pericardium, Hypoplastic tricuspid valve, Glycosuria, Failure to thrive, Umb...	OMIM:600001
Multiple Pterygium Syndrome, Escobar Variant	Diaphragmatic eventration, Anterior clefting of vertebral bodies, Arthrogryposis multiplex congen...	OMIM:265000
3M Syndrome	Increased vertebral height, Short neck, Hyperlordosis, Scapular winging, Scoliosis, Kyphosis	ORPHA:2616
Spondyloenchondrodysplasia	Platyspondyly, Hepatitis, Chorea, Myalgia, Lower limb pain, Kyphosis	ORPHA:1855
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Difficulty walking, Inability to walk, Contracture of the proximal interphalangea...	ORPHA:464738
Thanatophoric Dysplasia Type 2	Platyspondyly, Kyphosis	ORPHA:93274
Poland Syndrome	Abnormality of the liver, Congenital diaphragmatic hernia, Vertebral segmentation defect, Short n...	ORPHA:2911
Deeah Syndrome	Hepatomegaly, Neonatal hypoglycemia, Exocrine pancreatic insufficiency	OMIM:619004
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Chorioretinal scar, Cataract, Posterior synechiae of the anterior chamber, Beta 2-...	ORPHA:91500
Alström Syndrome	Insulin resistance, Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase ...	ORPHA:64
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Recurrent hypoglycemia	ORPHA:293978
Brachyolmia Type 3	Platyspondyly, Short neck, Scoliosis, Kyphosis	OMIM:113500
Fountain Syndrome	Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3219
Magel2-Related Prader-Willi-Like Syndrome	Impaired temperature sensation, Type II diabetes mellitus, Flexion contracture, Scoliosis, Kyphosis	ORPHA:398069
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Gait disturbance, Scoliosis, Kyph...	ORPHA:192
Achondroplasia	Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Spinal canal stenos...	ORPHA:15
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Gait imbalance, Prominent protruding coccyx, Short neck, Prominent coccyx, Gait disturbance, Atax...	OMIM:300966
Joubert Syndrome 5	Episodic tachypnea, Central apnea, Ataxia	OMIM:610188
Aortic Arch Interruption	Respiratory distress, Left ventricular hypertrophy, Tachypnea, Postexertional symptom exacerbation	ORPHA:2299
Kabuki Syndrome 2	Neonatal hypoglycemia	OMIM:300867
Foxg1 Syndrome Due To 14Q12 Microdeletion	Macroglossia, Scoliosis, Kyphosis	ORPHA:261144
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Short neck, Kyphosis	ORPHA:3082
Autosomal Recessive Spastic Paraplegia Type 35	Dysdiadochokinesis, Difficulty walking, Foot dorsiflexor weakness, Dysmetria, Urinary incontinenc...	ORPHA:171629
Chronic Visceral Acid Sphingomyelinase Deficiency	Ataxia, Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid con...	ORPHA:77293
Smooth Muscle Dysfunction Syndrome	Tachypnea	OMIM:613834
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Camptodactyly of finger, Short neck, Scoliosis, Kyphosis	ORPHA:85293
Trisomy 13	Scoliosis, Kyphosis	ORPHA:3378
Leptospirosis	Hepatitis, Respiratory distress, Myalgia, Rhabdomyolysis, Elevated serum transaminases during inf...	ORPHA:509
Difference Of Sex Development-Intellectual Disability Syndrome	Spina bifida occulta, Short neck, Kyphosis	ORPHA:2983
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis	ORPHA:3121
Trisomy 9P	Short neck, Scoliosis, Kyphosis, Sacral dimple	ORPHA:236
Acro-Renal-Mandibular Syndrome	Butterfly vertebrae, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Scoliosis, Kyphosis	ORPHA:958
Dysostosis, Stanescu Type	Short neck, Hyperlordosis, Macroglossia, Scoliosis, Kyphosis	ORPHA:1798
Goodpasture Syndrome	Chest pain, Tachypnea, Fatigue, Increased blood urea nitrogen, Chills	OMIM:233450
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Scoliosis, Impaired pain sensation, Kyphosis	OMIM:619005
Sarcoidosis	Hepatic failure, Decreased liver function, Portal hypertension, Proximal muscle weakness, Abnorma...	ORPHA:797
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Renal artery stenosis, Hyperlipidemia, Myocardial steato...	ORPHA:391665
Intellectual Developmental Disorder, X-Linked 112	Pain, Kyphoscoliosis, Fatigue, Pancreatic cysts, Scoliosis, Kyphosis	OMIM:301111
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Abnormality of the vertebral column, Abdominal situs inversus, Abn...	ORPHA:280
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Fasting hypoglycemia, Decreased muscle mass	ORPHA:96182
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Flexion contracture, Gait disturbance, Scoliosis, Kyphosis	ORPHA:500055
3C Syndrome	Short neck, Scoliosis, Kyphosis, Hemivertebrae	ORPHA:7
Cockayne Syndrome Type 3	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Difficulty walk...	ORPHA:90324
Pontocerebellar Hypoplasia, Type 17	Limb hypertonia, Kyphosis	OMIM:619909
Cardiofacioneurodevelopmental Syndrome	Camptodactyly, Asplenia, Kyphosis, Abdominal situs inversus	OMIM:619123
2P15P16.1 Microdeletion Syndrome	Camptodactyly of finger, Gait disturbance, Facial palsy, Scoliosis, Kyphosis	ORPHA:261349
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Scoliosis, Kyphosis	ORPHA:404440
Lateral Meningocele Syndrome	Decreased muscle mass, Biconcave vertebral bodies, Short neck, Vertebral fusion, Scoliosis, Kyphosis	OMIM:130720
Mucolipidosis Type Ii	Inability to walk, Hepatosplenomegaly, Diastasis recti, Splenomegaly, Hip contracture, Knee flexi...	ORPHA:576
Osteogenesis Imperfecta, Type Iii	Scoliosis, Kyphosis, Biconcave vertebral bodies	OMIM:259420
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pancreatitis, Kyphosis	OMIM:610475
Rett Syndrome, Congenital Variant	Chorea, Athetosis, Scoliosis, Kyphosis	OMIM:613454
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Kyphosis, Caudal interpedicular narrowing, Scoliosis, Posterior scalloping of vertebral bodies, I...	OMIM:603546
Supranuclear Palsy, Progressive, 1	Limb dystonia, Axial dystonia, Retrocollis, Rigidity, Tremor, Parkinsonism, Bradykinesia, Eyelid ...	OMIM:601104
Lateral Meningocele Syndrome	Abnormal form of the vertebral bodies, Short neck, Hyperlordosis, Scoliosis, Kyphosis	ORPHA:2789
Marfanoid Habitus With Situs Inversus	Scoliosis, Kyphosis	OMIM:609008
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Scoliosis, Kyphosis, Camptodactyly of finger	OMIM:619951
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperphosphatemia, Kyphosis, Hyperuricemia	OMIM:239000
Orofaciodigital Syndrome Type 2	Tachypnea, Apnea	ORPHA:2751
Koolen-De Vries Syndrome	Spondylolisthesis, Hypotrophy of the small hand muscles, Vertebral fusion, Scoliosis, Kyphosis, S...	OMIM:610443
Double Outlet Left Ventricle	Cardiomegaly, Tachypnea	ORPHA:3427
Thanatophoric Dysplasia Type 1	Platyspondyly, Abnormal sacroiliac joint morphology, Kyphosis	ORPHA:1860
Osteogenesis Imperfecta	Exercise intolerance, Cervical kyphosis, Somatic sensory dysfunction, Abnormal form of the verteb...	ORPHA:666
Koolen-De Vries Syndrome	Vertebral fusion, Scoliosis, Kyphosis, Vertebral segmentation defect	ORPHA:96169
Congenital Heart Defects And Skeletal Malformations Syndrome	Camptodactyly, Congenital diaphragmatic hernia, Scoliosis, Kyphosis	OMIM:617602
Hajdu-Cheney Syndrome	Hypoplastic 5th lumbar vertebrae, Splenomegaly, Biconcave vertebral bodies, Short neck, Arthralgi...	ORPHA:955
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypopnea, Difficulty walking, Apnea, Urinary incontinence, Scoliosis, Kyphosis	OMIM:619482
Acromegaly	Paresthesia, Arthralgia, Fatigue, Macroglossia, Spinal canal stenosis, Kyphosis, Diabetes mellitus	ORPHA:963
Fliedner-Zweier Syndrome	Scoliosis, Kyphosis	OMIM:620511
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Contractures of the large joints, Apnea, Kyphosis, Hypomimic face	OMIM:617527
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Scoliosis, Kyphosis	ORPHA:261190
Somatomammotropinoma	Paresthesia, Arthralgia, Fatigue, Macroglossia, Spinal canal stenosis, Kyphosis, Diabetes mellitus	ORPHA:314769
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Acth-Independent Macronodular Adrenal Hyperplasia	Skeletal muscle atrophy, Kyphosis	OMIM:219080
Cockayne Syndrome A	Splenomegaly, Hip contracture, Gait disturbance, Ataxia, Hepatomegaly, Kyphosis	OMIM:216400
Plaa-Associated Neurodevelopmental Disorder	Contractures of the large joints, Apnea, Limb hypertonia, Kyphosis	ORPHA:521426
Distal Triplication 15Q	Camptodactyly, Flexion contracture, Scoliosis, Kyphosis	ORPHA:314588
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Scoliosis, Kyphosis	ORPHA:394
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Scoliosis, Kyphosis, Vertebral segmentation defect	ORPHA:1005
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Knee flexion contracture, Kyphosis, Dysmetria, Ataxia	OMIM:619708
Alkaptonuria	Intervertebral disk degeneration, Thickened Achilles tendon, Low back pain, Arthralgia, Diminishe...	OMIM:203500
Microphthalmia, Lenz Type	Kyphosis, Scoliosis, Hyperlordosis, Camptodactyly of finger	ORPHA:568
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Knee flexion contracture, Thoracol...	OMIM:618019
3-Methylglutaconic Aciduria, Type Viii	Jaundice, Neonatal hypoglycemia	OMIM:617248
Holt-Oram Syndrome	Scoliosis, Kyphosis	ORPHA:392
Cole-Carpenter Syndrome 2	Platyspondyly, Kyphosis	OMIM:616294
Harrod Syndrome	Scoliosis, Kyphosis	ORPHA:2115
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Hemivertebrae, Macroglossia, Scoliosis, Kyphosis	OMIM:301040
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Camptodactyly of finger, Lumbar hyperlordosis, Intervertebral space narrowing, Narrow vertebral i...	OMIM:143095
Noonan Syndrome 14	Short neck, Kyphosis, Scapular winging	OMIM:619745
Chromosome Xq26.3 Duplication Syndrome	Body odor, Arthralgia, Kyphosis	OMIM:300942
Intellectual Developmental Disorder, Autosomal Dominant 57	Tip-toe gait, Scoliosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th f...	OMIM:618050
Basel-Vanagaite-Smirin-Yosef Syndrome	Scoliosis, Kyphosis	OMIM:616449
Spondyloperipheral Dysplasia	Platyspondyly, Short neck, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates	OMIM:271700
Weaver Syndrome	Joint contracture of the hand, Diastasis recti, Camptodactyly, Scoliosis, Kyphosis	OMIM:277590
Cole-Carpenter Syndrome	Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2050
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Apnea, Kyphoscoliosis, Thoracic sco...	OMIM:602535
Primrose Syndrome	Elevated circulating alpha-fetoprotein concentration, Distal amyotrophy, Kyphosis, Skeletal muscl...	OMIM:259050
Smith-Lemli-Opitz Syndrome	Abnormal form of the vertebral bodies, Abnormality of the gallbladder, Elevated circulating 7-deh...	ORPHA:818
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Abnormal form of the vertebral bodies, Myopathy, Hip contracture, Posterior scalloping of vertebr...	ORPHA:3042
Truncus Arteriosus	Cardiomegaly, Tachypnea, Right ventricular hypertrophy	ORPHA:3384
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Joint contracture of the hand, Hypoglycemia, Decreased circulating renin level, Hyponatremia, Cam...	OMIM:201750
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Hyperuricemia	ORPHA:2769
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphosis, Left ventricular noncompaction, Kyphoscoliosis, Cardiomegaly, Ataxia, Scoliosis, Right ...	OMIM:300967
Costello Syndrome	Macroglossia, Rhabdomyosarcoma, Hypoglycemia, Achilles tendon contracture	OMIM:218040
X-Linked Intellectual Disability, Snyder Type	Decreased muscle mass, Inability to walk, Kyphoscoliosis, Camptodactyly, Unsteady gait, Kyphosis	ORPHA:3063
Intellectual Developmental Disorder, Autosomal Dominant 73	Tip-toe gait, Lumbar hyperlordosis, Knee flexion contracture, Thoracolumbar scoliosis, Hyperlordo...	OMIM:620450
Micro Syndrome	Scoliosis, Kyphosis	ORPHA:2510
2Q31.1 Microdeletion Syndrome	Camptodactyly of finger, Vertebral segmentation defect, Short neck, Scoliosis, Kyphosis	ORPHA:251014
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Abnormality of the cervical spine, Flexion contracture of finger, Gait...	ORPHA:464311
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Aspartylglucosaminuria	Platyspondyly, Spondylolysis, Spondylolisthesis, Beaking of vertebral bodies, Hepatomegaly, Macro...	OMIM:208400
Mgat2-Cdg	Respiratory distress, Scoliosis, Kyphosis	ORPHA:79329
1P36 Deletion Syndrome	Annular pancreas, Camptodactyly of finger, Abnormality of the spleen, Abnormality of the liver, H...	ORPHA:1606
Cockayne Syndrome B	Hepatomegaly, Kyphosis, Splenomegaly, Ataxia	OMIM:133540
Campomelic Dysplasia	Short neck, Scoliosis, Kyphosis, Poorly ossified cervical vertebrae	ORPHA:140
Cowden Syndrome 5	Scoliosis, Kyphosis	OMIM:615108
16Q24.3 Microdeletion Syndrome	Scoliosis, Kyphosis	ORPHA:261250
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, Scapular winging	OMIM:616914
Cowden Syndrome 6	Scoliosis, Kyphosis	OMIM:615109
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Abnormality of the cervical spine, Gait disturbance, Scoliosis, Kyph...	ORPHA:464306
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Pseudoxanthoma Elasticum, Forme Fruste	Scoliosis, Kyphosis	OMIM:177850
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 3rd finger, Short neck, Hemivertebrae, C...	OMIM:618223
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Kyphosis, Scoliosis, Gait ataxia, Hyperlordosis	OMIM:617011
Mend Syndrome	Elevated 8(9)-cholestenol, Limb hypertonia, Elevated 8-dehydrocholesterol, Kyphosis, Sacral dimple	ORPHA:401973
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Hypochloremia	ORPHA:90794
Robinow Syndrome, Autosomal Dominant 3	Short neck, Camptodactyly, Scoliosis, Kyphosis, Sacral dimple	OMIM:616894
Cono-Spondylar Dysplasia	Short neck, Scoliosis, Kyphosis	ORPHA:420794
Marden-Walker Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph...	ORPHA:2461
Cohen Syndrome	Scoliosis, Kyphosis	ORPHA:193
Cowden Syndrome 1	Scoliosis, Kyphosis	OMIM:158350
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Elbow flexion contracture, Hip contracture, Knee flexion contracture, Short neck, Macroglossia, S...	OMIM:619194
Multiple Endocrine Neoplasia, Type Iib	Kyphosis, Scoliosis, Hyperlordosis, Myopathy	OMIM:162300
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Bilateral camptodactyly, Scoliosis, Kyphosis	OMIM:619557
Occipital Horn Syndrome	Platyspondyly, Decreased circulating ceruloplasmin concentration, Decreased circulating copper co...	OMIM:304150
Osteogenesis Imperfecta, Type Iv	Biconcave flattened vertebrae, Scoliosis, Kyphosis	OMIM:166220
Non-Acquired Panhypopituitarism	Hypoglycemia	ORPHA:90695
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Congenital hepatic fibrosis	ORPHA:93271
Monosomy 9Q22.3	Short neck, Abnormality of the vertebral column, Kyphosis, Rhabdomyosarcoma	ORPHA:77301
Frank-Ter Haar Syndrome	Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Prominent coccyx, Camptodactyly, Kyphosis	OMIM:249420
Occipital Horn Syndrome	Platyspondyly, Hepatitis, Cholestasis, Jaundice, Scoliosis, Kyphosis	ORPHA:198
Zttk Syndrome	Absent gallbladder, Hemivertebrae, Flexion contracture, Scoliosis, Kyphosis	OMIM:617140
Autosomal Recessive Robinow Syndrome	Camptodactyly of finger, Vertebral segmentation defect, Short neck, Scoliosis, Kyphosis, Sacral d...	ORPHA:1507
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Scoliosis, Kyphosis, Skeletal muscle atrophy	ORPHA:1969
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis	OMIM:610915
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad-based gait, Gait disturbance, Ataxia, Scoliosis, Kyphosis, Sacral dimple	ORPHA:268261
Cowden Syndrome	Enlarged polycystic ovaries, Ataxia, Macroglossia, Scoliosis, Kyphosis	ORPHA:201
Mosaic Trisomy 20	Spinal canal stenosis, Vertebral segmentation defect, Vertebral fusion, Scoliosis, Kyphosis, Fuse...	ORPHA:1724
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small hypothenar eminence, Lumbar hyperlordosis, Contracture of the proximal interphalangeal join...	ORPHA:2232
Cleidocranial Dysplasia 1	Spondylolysis, Respiratory distress, Spondylolisthesis, Scoliosis, Kyphosis	OMIM:119600
Wolf-Hirschhorn Syndrome	Accessory spleen, Abnormal form of the vertebral bodies, Decreased muscle mass, Biliary tract abn...	OMIM:194190
Koolen-De Vries Syndrome Due To A Point Mutation	Cervical spinal canal stenosis, Spondylolisthesis, Hand muscle atrophy, Hyperlordosis, Scoliosis,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Cervical spinal canal stenosis, Spondylolisthesis, Hand muscle atrophy, Hyperlordosis, Scoliosis,...	ORPHA:363958
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Biconcave vertebral bodies, Kyphoscoliosis, Severe platyspondyly, Vertebral compre...	OMIM:259770
Sotos Syndrome	Abnormal vertebral morphology, Ankle flexion contracture, Hypercalcemia, Hip contracture, Bilater...	ORPHA:821
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis	OMIM:610489
Spondyloarthropathy, Susceptibility To, 1	Sacroiliac arthritis, Kyphosis, Back pain	OMIM:106300
Stickler Syndrome	Platyspondyly, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Spinal canal steno...	ORPHA:828
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypoglycemia	ORPHA:95494
Marfan Syndrome	Skeletal muscle atrophy, Myalgia, Spondylolisthesis, Arthralgia/arthritis, Chronic fatigue, Scoli...	ORPHA:558
Holoprosencephaly 1	Hypoglycemia	OMIM:236100
Cdags Syndrome	Kyphosis	OMIM:603116
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Neurofibromatosis Type 1	Paresthesia, Ataxia, Rhabdomyosarcoma, Scoliosis, Kyphosis	ORPHA:636
Lenz-Majewski Hyperostotic Dwarfism	Facial palsy, Scoliosis, Kyphosis	ORPHA:2658
Coffin-Siris Syndrome 1	Gait ataxia, Congenital diaphragmatic hernia, Spina bifida occulta, Scoliosis, Kyphosis, Sacral d...	OMIM:135900
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Scoliosis, Kyphosis	OMIM:619718
Lymphedema-Distichiasis Syndrome	Kyphosis	OMIM:153400
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis	ORPHA:85199
Mend Syndrome	Kyphosis, Sacral dimple	OMIM:300960
Shprintzen Omphalocele Syndrome	Lumbar hyperlordosis, Scoliosis, Kyphosis	OMIM:182210
Spondyloepimetaphyseal Dysplasia, X-Linked	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Anterior wedging of T11,...	OMIM:300106
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Platyspondyly, Abnormality of the vertebral column, Camptodactyly ...	ORPHA:2273
17Q11 Microdeletion Syndrome	Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Pain, Rhabdomyosarcoma, ...	ORPHA:97685
Cerebrocostomandibular Syndrome	Kyphosis	ORPHA:1393
Wrinkly Skin Syndrome	Hypoplasia of the musculature, Scoliosis, Kyphosis, Scapular winging	OMIM:278250
Coffin-Lowry Syndrome	Lumbar kyphosis, Scoliosis, Kyphosis	OMIM:303600
Viss Syndrome	Butterfly vertebrae, Right ventricular hypertrophy, Contracture of the proximal interphalangeal j...	OMIM:619472
Ramon Syndrome	Scoliosis, Kyphosis	OMIM:266270
Branchiooculofacial Syndrome	Elbow flexion contracture, Short neck, Hyperlordosis, Duplication of internal organs, Facial pals...	OMIM:113620
Yunis-Varon Syndrome	Kyphosis, Anterior concavity of thoracic vertebrae	OMIM:216340

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Agl

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Agl.

There are 7 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III.	The Journal of clinical investigation (January 2024)	Agl^{tm1b(EUCOMM)Wtsi}	PMC10786702
Brain glycogen serves as a critical glucosamine cache required for protein glycosylation.	Cell metabolism (May 2021)	Agl^{tm1a(EUCOMM)Wtsi}	34043942
A Novel Gene Therapy Approach for GSD III Using an AAV Vector Encoding a Bacterial Glycogen Debranching Enzyme.	Molecular therapy. Methods & clinical development (June 2020)	Agl^{Tm1a(EUCOMM)Wtsi}	PMC7327847
Elucidating the role of Agl in bladder carcinogenesis by generation and characterization of genetically engineered mice.	Carcinogenesis (March 2019)	Agl^{tm1e(EUCOMM)Wtsi}	30403777
Inhibition of Glycogen Synthase II with RNAi Prevents Liver Injury in Mouse Models of Glycogen Storage Diseases.	Molecular therapy : the journal of the American Society of Gene Therapy (April 2018)	Agl^{tm1a(EUCOMM)Wtsi}	29784585
Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression.	Molecular therapy : the journal of the American Society of Gene Therapy (December 2017)	Agl^{tm1b(EUCOMM)Wtsi}	29396266
Mouse model of glycogen storage disease type III.	Molecular genetics and metabolism (February 2014)	Agl^{tm1a(EUCOMM)Wtsi}	24613482

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MGI Allele	Allele Type	Produced
Agl^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Agl^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Agl^{tm1c(EUCOMM)Wtsi}	Wild type floxed exon (post-Flp)	Mice
Agl^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Agl MGI:1924809

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Echo

X-ray

Adult LacZ

Auditory Brain Stem Response

Human diseases caused by Agl mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data