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Gene: Agl MGI:1924809

Gene Summary

Name:

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

Synonyms:

1110061O17Rik, 9430004C13Rik, 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 amylase level	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.39×10^-06
preweaning lethality, incomplete penetrance	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
impaired glucose tolerance	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.31×10^-11
decreased total body fat amount	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.38×10^-07
increased lean body mass	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.49×10^-09
decreased circulating glucose level	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
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
abnormal gait	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.75×10^-05
cataract	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.11×10^-14
increased heart weight	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.68×10^-10
decreased bone mineral content	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.12×10^-09
increased circulating creatine kinase level	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.59×10^-05
increased circulating aspartate transaminase level	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating iron level	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating bilirubin level	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.69×10^-07
increased fasting circulating glucose level	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.97×10^-09
increased circulating alanine transaminase level	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
tremors	Agl^{tm1b(EUCOMM)Wtsi}	HET	Early adult	2.97×10^-05
increased circulating cholesterol level	Agl^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	6.10×10^-05

Download data as: TSV XLS

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lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Heart	Wholemount images	heterozygote	100% (4 of 4)
Kidney	Wholemount images	heterozygote	100% (4 of 4)
Testis	Wholemount images	heterozygote	50% (2 of 4)
Adrenal gland	N/A	heterozygote	0.0% (0 of 4)
Aorta	N/A	heterozygote	0.0% (0 of 4)
Bone	N/A	heterozygote	0.0% (0 of 4)
Brain	N/A	heterozygote	0.0% (0 of 4)
Brainstem	N/A	heterozygote	0.0% (0 of 4)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 4)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 4)
Cerebellum	N/A	heterozygote	0.0% (0 of 4)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 4)
Esophagus	N/A	heterozygote	0.0% (0 of 4)
Eye	N/A	heterozygote	0.0% (0 of 4)
Gall bladder	N/A	heterozygote	0.0% (0 of 4)
Hippocampus	N/A	heterozygote	0.0% (0 of 4)
Hypothalamus	N/A	heterozygote	0.0% (0 of 4)
Large intestine	N/A	heterozygote	0.0% (0 of 4)
Liver	N/A	heterozygote	0.0% (0 of 4)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 4)
Lung	N/A	heterozygote	0.0% (0 of 4)
Lymph node	N/A	heterozygote	0.0% (0 of 4)
Mammary gland	N/A	heterozygote	0.0% (0 of 4)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 4)
Oral epithelium	N/A	heterozygote	0.0% (0 of 4)
Ovary	N/A	heterozygote	0.0% (0 of 4)
Oviduct	N/A	heterozygote	0.0% (0 of 4)
Pancreas	N/A	heterozygote	0.0% (0 of 4)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 4)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 4)
Peyer's patch	N/A	heterozygote	0.0% (0 of 4)
Pituitary gland	N/A	heterozygote	0.0% (0 of 4)
Prostate gland	N/A	heterozygote	0.0% (0 of 4)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 4)
Skin	N/A	heterozygote	0.0% (0 of 4)
Small intestine	N/A	heterozygote	0.0% (0 of 4)
Spinal cord	N/A	heterozygote	25% (1 of 4)
Spleen	N/A	heterozygote	0.0% (0 of 4)
Stomach	N/A	heterozygote	0.0% (0 of 4)
Striatum	N/A	heterozygote	0.0% (0 of 4)
Thymus	N/A	heterozygote	0.0% (0 of 4)
Thyroid gland	N/A	heterozygote	0.0% (0 of 4)
Trachea	N/A	heterozygote	0.0% (0 of 4)
Uterus	N/A	heterozygote	0.0% (0 of 4)
Vascular system	N/A	heterozygote	0.0% (0 of 4)
White adipose tissue	N/A	heterozygote	0.0% (0 of 4)

No Embryo expression data was found for this gene.

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
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 Skull Dorso Ventral Orientation

14 Images

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Echo

M-Mode Images

36 Images

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Adult LacZ

LacZ Images Wholemount

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 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 (1584 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		Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:232400
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency		Myopathy, Hypertriglyceridemia, Hypoglycemia	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, Hand tremor, Action tremor	OMIM:190300
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:619491
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Episodic Kinesigenic Dyskinesia 2	Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia	OMIM:611031
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:232400
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Autosomal Recessive Spastic Paraplegia Type 71	Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia	ORPHA:401840
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Neonatal Hemochromatosis	Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase...	ORPHA:446
Tremor, Hereditary Essential, 2	Kinetic tremor, Upper limb postural tremor	OMIM:602134
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus	OMIM:611092
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu...	OMIM:616199
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor	OMIM:190200
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Involuntary movements, Dystonia	OMIM:620245
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ...	OMIM:232700
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Distal muscle weakness, Hypoglycemia, Elevated circulating creatine kina...	OMIM:300559
Hemochromatosis, Neonatal	Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,...	OMIM:231100
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Diabetes mellitus, Increased circulating ferritin concentration, E...	ORPHA:79230
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi...	OMIM:271500
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci...	OMIM:610717
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Skeletal muscle atrophy, Distal muscle weakness, Splenomegaly, Limb ataxia, Gait at...	OMIM:616719
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Episodic Ataxia, Type 8	Episodic ataxia, Slurred speech, Ataxia, Intention tremor	OMIM:616055
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ...	OMIM:614561
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia	OMIM:606664
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Portal fibrosis, Hepat...	ORPHA:369
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre...	OMIM:261750
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Facia...	OMIM:500009
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:613313
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Obesity	OMIM:608320
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance, Arthralgia, Paresthesia, Gait disturbance	ORPHA:2398
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Lipod...	OMIM:612526
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Gait ataxia	ORPHA:217012
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Hypoglycemia, Progressive cerebellar ataxia	ORPHA:67046
X-Linked Spinocerebellar Ataxia Type 4	Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign	ORPHA:85292
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fatty replacement of skeletal muscle, Gowers sign, Proximal muscle weakness in lower limbs, Fasti...	ORPHA:171706
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:609016
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab...	ORPHA:324575
Malaria	Acute kidney injury, Hyperbilirubinemia, Gait imbalance, Elevated circulating C-reactive protein ...	ORPHA:673
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Ataxia	OMIM:615945
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor	OMIM:611808
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hypoglycemi...	ORPHA:276580
Hypercholanemia, Familial, 2	Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Chorea, Benign Familial	Chorea	OMIM:215450
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Exercise-induced rhabdomyolysis, Elevated circulating crea...	OMIM:201475
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ...	OMIM:619868
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Atrial septal defect, Hype...	OMIM:620211
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre...	OMIM:615703
Progressive Myoclonic Epilepsy Type 1	Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor	ORPHA:308
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly, Ataxia, Gait disturbance	ORPHA:2274
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis, Recurrent hypoglycemia, Hypoalbuminemia	OMIM:620357
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k...	OMIM:618655
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Calf musc...	ORPHA:280356
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated...	OMIM:615158
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Elevated circ...	ORPHA:42
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Elevated hepatic transaminase, Waddling gait, Elevated circulating creatine kinase concentration,...	OMIM:612937
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Generalized limb muscle atrophy, Gait ataxia, Hepatosplenomegaly, Progress...	ORPHA:466794
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Episodic tachypnea, Hypera...	OMIM:615160
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu...	OMIM:619386
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Hip contracture, Scapular winging, Broad-based gait, Elevated circulating creatine...	OMIM:615290
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor	ORPHA:2589
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid...	OMIM:620010
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Ataxia, Decr...	OMIM:246900
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:600116
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Hyperbilirubinemia	OMIM:618660
Dystonia 23	Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia	OMIM:614860
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Rhab...	OMIM:618120
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Eleva...	ORPHA:79240
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy, Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid...	ORPHA:276556
Intellectual Developmental Disorder, Autosomal Recessive 14	Intention tremor	OMIM:614020
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia	OMIM:601820
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid leve...	ORPHA:276575
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Rotor Syndrome	Bilirubinuria, Conjugated hyperbilirubinemia, Conjunctival icterus, Porphyrinuria, Hyperbilirubin...	ORPHA:3111
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:212140
Galactokinase Deficiency	Hepatomegaly, Cataract, Hypoglycemia, Small for gestational age, Hyperinsulinemia, Hepatosplenome...	ORPHA:79237
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Limb dystonia	ORPHA:210571
Analbuminemia	Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles...	OMIM:616000
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia	OMIM:261650
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato...	ORPHA:399058
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Frequent falls, Hemiballismus	ORPHA:494526
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho...	OMIM:300718
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Res...	OMIM:617404
Intellectual Developmental Disorder, Autosomal Dominant 69	Intention tremor	OMIM:617863
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Hyperammonemia	ORPHA:35
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, H...	ORPHA:79319
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	ORPHA:254864
Myopathy, Tubular Aggregate, 2	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Proximal muscle we...	OMIM:615883
Chorea, Childhood-Onset, With Psychomotor Retardation	Chorea, Involuntary movements	OMIM:616939
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Elevated circulat...	OMIM:600175
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea...	OMIM:619048
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia	OMIM:605909
Edinburgh Malformation Syndrome	Failure to thrive, Neonatal hyperbilirubinemia	OMIM:129850
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Centrally n...	OMIM:608358
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Athetosis, Hyperalaninemia	OMIM:266150
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia, Prolonged neonatal jaundice	OMIM:262400
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu...	OMIM:602124
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Spinocerebellar Ataxia Type 38	Tremor, Gait ataxia	ORPHA:423296
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia	ORPHA:94124
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia	OMIM:144300
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:212138
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Hemochromatosis, Type 4	Fatigue, Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferri...	OMIM:606069
Paroxysmal Kinesigenic Dyskinesia	Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia	ORPHA:98809
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Hypog...	ORPHA:264580
Fanconi-Bickel Syndrome	Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouricemia, Osteomalacia, Renal tubular dysfunct...	OMIM:227810
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating branched chain amino acid conce...	ORPHA:2394
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Kyphosis, Inability to walk, Gait disturbance, Scoliosis, Joint contract...	OMIM:611225
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia	OMIM:614741
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ...	ORPHA:314978
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia	OMIM:607250
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Gout, Increased LDL cholesterol c...	OMIM:610947
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hypoglycemia, Elevated circulating creatinine concentration, Increased blood urea n...	OMIM:617872
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Adipose tissue loss, Insuli...	ORPHA:528
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Decreased circulating cerul...	OMIM:616828
Autosomal Recessive Spastic Paraplegia Type 70	Lower limb spasticity, Hand tremor, Progressive spastic paraplegia	ORPHA:401835
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ...	OMIM:604326
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Incr...	ORPHA:293964
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Avian Influenza	Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:454836
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Spinocerebellar Ataxia Type 28	Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t...	ORPHA:101109
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Nephrotic sy...	OMIM:269920
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Kyphoscoliosis, Elevated circulating creatine kinase concentr...	OMIM:620386
Hypoglycemia, Leucine-Induced	Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia	OMIM:240800
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Diabetes mellitus, Pneumonia, Elevated circulating C-reactive protein conce...	ORPHA:36238
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Myopathy, Lethargy, Hepat...	ORPHA:26792
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Hypoglycosylation of alpha-dystroglycan, Scapular winging, Elevated circulating creatine kinase c...	OMIM:616052
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Small for gestational age, Micropenis, Ataxia, Neonatal hyperbilirubinemia	ORPHA:3363
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemi...	OMIM:278000
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Transient hyp...	ORPHA:156
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Hyperlordosis, Chorea, Myopathy, Rest...	ORPHA:369840
Hepatic Veno-Occlusive Disease	Hepatomegaly, Renal insufficiency, Increased body weight, Increased total bilirubin	ORPHA:890
Bethlem Myopathy 2	Scapular winging, Elevated circulating creatine kinase concentration, Kyphosis, Flexion contractu...	OMIM:616471
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr...	ORPHA:454887
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepati...	OMIM:602579
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract, Elevated circulating creatine kinase concentration, Decreased movement range in interph...	OMIM:609115
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Generalized muscle weakness, Hyperinsulinemia, Pancreatic islet-cell hyper...	ORPHA:276608
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor...	ORPHA:98762
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Hepatomegaly, Hyperbilirubinemia	OMIM:237800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Elbow contracture, V...	OMIM:606612
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia	OMIM:179700
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein...	OMIM:251880
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism...	ORPHA:314632
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Respiratory insufficiency due to muscle weakness, Kyphosis, Upper limb amyotrophy, Distal sensory...	OMIM:617087
Migraine, Familial Hemiplegic, 1	Tremor, Hemiplegia, Ataxia, Hemiparesis	OMIM:141500
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:617950
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno...	OMIM:616860
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex...	OMIM:608836
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosi...	OMIM:607155
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity	OMIM:615924
Isolated Polycystic Liver Disease	Hepatomegaly, Multiple renal cysts, Increased total bilirubin	ORPHA:2924
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Osteoarthritis, Osteoporosis, Obesity, Hyperostosis frontalis interna, Hyperur...	ORPHA:77296
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:617093
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ...	OMIM:261680
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Exercise-induced rhabdomyolysis, Respiratory distres...	ORPHA:26793
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis	OMIM:176090
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Dyspnea, Tachypnea, Restrictive ventilator...	OMIM:616414
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin...	OMIM:613759
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Flexion contracture, Hyperglycemia, Calcinosis, Hepatomegaly, Lipodystrophy, Insulin-...	OMIM:248370
Aceruloplasminemia	Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc...	ORPHA:48818
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Hypoglycemia, Episodic tachypn...	ORPHA:348
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:617049
Dystonia 12	Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia	OMIM:128235
Hijazi-Reis Syndrome	Astigmatism, Gait disturbance, Iris coloboma, Hyperbilirubinemia	OMIM:301094
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	OMIM:608600
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng...	OMIM:617284
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia	ORPHA:664
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly, Neck muscle weakness, Muscle weakness	ORPHA:158
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin...	OMIM:208920
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb...	ORPHA:216873
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega...	OMIM:151660
Short Stature Due To Ghsr Deficiency	Hypoglycemia	ORPHA:314811
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Ketonu...	ORPHA:247598
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Let...	OMIM:616483
X-Linked Sideroblastic Anemia	Fatigue, Elevated hepatic transaminase, Splenomegaly, Dyspnea, Glucose intolerance, Abnormality o...	ORPHA:75563
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Hepatomegaly, Ventricular septal defect, Proteinuria, Conjugated hyperbilirubinemia, Nephropathy,...	OMIM:613404
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi...	ORPHA:521406
Autoinflammatory-Pancytopenia Syndrome	Type I diabetes mellitus, Cholestatic liver disease, Hepatic fibrosis, Hepatosplenomegaly	OMIM:619858
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst, Increased total bilirubin	OMIM:174050
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent...	ORPHA:79322
Urocanase Deficiency	Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating acylcarnitine concentration, Rh...	ORPHA:159
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, Maturity-onset diabetes of the young, Obesity, Joint hypermobility	ORPHA:254531
Iron Overload, Susceptibility To	Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati...	OMIM:620121
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Apnea, Tachypnea, Hyperammonemia, Hyperglycinemia, Pancreatitis, Limb...	OMIM:606054
Retinitis Pigmentosa 89	Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly	OMIM:618955
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations	OMIM:615048
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:616730
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Ch...	ORPHA:1667
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture	OMIM:618856
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele...	OMIM:609015
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu...	OMIM:614300
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R...	ORPHA:264675
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Cholestasis, Glucose intolerance, Hepatic...	OMIM:615630
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria	ORPHA:363710
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Galactosemia Ii	Cataract, Hypergalactosemia, Galactosuria	OMIM:230200
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Hepatomegaly, Rickets	OMIM:619232
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention...	OMIM:301310
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lethargy, Hypoglycemia	OMIM:615026
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Cataract, Proteinuria, Ataxia, Type II diabetes mellitus, Hy...	ORPHA:225
Laron Syndrome	Hypoplasia of penis, Hypoglycemia, Osteoarthritis, Truncal obesity, Hypercholesterolemia	ORPHA:633
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Diabetes mellitus, Elevated circulating creatine kinase concentration, L...	OMIM:615980
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp...	ORPHA:2089
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight...	OMIM:616222
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait	OMIM:600363
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr...	ORPHA:766
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creati...	OMIM:615895
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype...	ORPHA:35878
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Ataxia, Tachypnea, Hyperammonemia, Body odor, Hyperuricemia, Cough, H...	ORPHA:134
Glycogen Storage Disease Ia	Hepatomegaly, Hypoglycemia, Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gout, Xan...	OMIM:232200
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Myoclonus, Dystonia	OMIM:619651
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Ataxia, Dysmetria	OMIM:617917
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Fatigue, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dy...	OMIM:253601
Laurence-Moon Syndrome	Congenital hepatic fibrosis, Ataxia, Type II diabetes mellitus	ORPHA:2377
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei...	ORPHA:64753
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia	ORPHA:6
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Joint ...	OMIM:615704
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B...	ORPHA:240103
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Hepatomegaly, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory fai...	OMIM:614299
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Splenomegaly, Increased circulating ferriti...	OMIM:618892
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Skeletal muscle atrophy, Hypogly...	ORPHA:26791
Citrullinemia Type I	Torticollis, Ataxia, Tachypnea, Hyperammonemia, Elevated plasma citrulline, Hepatic failure	ORPHA:247525
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia	ORPHA:324588
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c...	OMIM:602088
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Ataxia, Splenomegaly, Hyperprolinemia, Muscle weakness, Hyperalaninemia...	OMIM:619046
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Unsteady gait, Hypoglycemia	OMIM:610090
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia...	ORPHA:101330
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hepatomegaly, Hyperlipidemia, Splenomegaly	OMIM:214900
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial...	ORPHA:71517
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Pancreatitis, Hyperammonemia	OMIM:620137
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Hepatomegaly, Conjugated hyperbilirubinemia, Rickets, Renal cyst, Abnormal serum bile...	ORPHA:79303
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyp...	ORPHA:75840
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	Hypoglycemia, Small for gestational age, Insulin resistance, Osteoporosis, Truncal obesity, Failu...	ORPHA:73272
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe...	OMIM:618138
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ...	ORPHA:567983
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Galactosemia Iv	Cataract, Hypergalactosemia	OMIM:618881
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158057
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp...	ORPHA:251282
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Hyperglutaminuria, Increased tota...	OMIM:616299
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Short neck, Decreased cervical spi...	ORPHA:98863
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating fatty-acid concentration, Hyper...	ORPHA:263455
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Diabetes Mellitus, Permanent Neonatal, 4	Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi...	OMIM:618858
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor	OMIM:620158
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper...	OMIM:618641
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Hypoglycemia, Methylmalonic acidemia, Elevated hepatic transaminase	ORPHA:289504
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Pneumonia, Elevated circulating C-reactive protein conc...	ORPHA:178320
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Ataxia, Elevated circulating acylcarnitine concentration, Tachypnea, Respiratory failure, Abnorma...	OMIM:615838
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d...	ORPHA:98855
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Gait disturbance, Mildly elevated creatine kinase, Hyperglycemia	OMIM:604484
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Kyphosis, Distal upper limb amyotr...	ORPHA:101075
Sandhoff Disease	Splenomegaly, Kyphosis, Ataxia, Hepatomegaly	ORPHA:796
Autosomal Dominant Spastic Paraplegia Type 29	Hernia, Abnormality of the lower urinary tract, Hyperbilirubinemia, Hiatus hernia	ORPHA:101009
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Fatigue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreatitis...	ORPHA:20
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus	OMIM:613608
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Epilepsy, Familial Adult Myoclonic, 1	Tremor	OMIM:601068
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Failure to thrive	OMIM:211600
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ...	OMIM:619902
Maple Syrup Urine Disease	Hypoglycemia, Elevated circulating branched chain amino acid concentration, Ataxia, Elevated circ...	OMIM:248600
Atypical Rett Syndrome	Sudden episodic apnea, Episodic tachypnea, Impaired pain sensation, Kyphosis, Inability to walk, ...	ORPHA:3095
Donohue Syndrome	Skeletal muscle atrophy, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell h...	OMIM:246200
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion contracture, Increa...	OMIM:618484
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d...	ORPHA:98853
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Failure to thriv...	OMIM:607765
Parkinsonism With Polyneuropathy	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:619279
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia, Muscle weakness	OMIM:616111
Cholesteryl Ester Storage Disease	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly	ORPHA:75234
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Craniosynostosis, Cardiomegaly	ORPHA:88643
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:618838
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia...	OMIM:267700
Senior-Loken Syndrome	Congenital hepatic fibrosis, Ataxia	ORPHA:3156
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Broad-based gait, Ataxia, Fail...	ORPHA:14
Becker Muscular Dystrophy	Exercise intolerance, Fatigue, Elevated hepatic transaminase, Skeletal muscle atrophy, Elevated c...	ORPHA:98895
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia, Inability to walk, Respiratory insufficiency, Athetosis, Gait disturbance, Scoliosi...	OMIM:618241
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Hepatitis, Fulminant Viral, Susceptibility To	Fatigue, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Fulminant hepatitis, Type I diabe...	OMIM:618549
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia, Acute rhabdomyolysis, Camptodactyly of finger, Ataxia, Kyphosis, Dysmetria, Paresth...	ORPHA:48431
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated hepati...	OMIM:619355
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, R...	ORPHA:412
Hypoalphalipoproteinemia, Primary, 2	Decreased HDL cholesterol concentration, Corneal arcus, Cataract	OMIM:618463
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea, Maternal diabetes	ORPHA:45452
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Lethargy, Hepatic steatosis	OMIM:201450
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:615362
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru...	ORPHA:541423
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Ataxia, Insulin resistance, Hyperinsulinemia, Gait ataxia, My...	ORPHA:363400
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated circulati...	ORPHA:99901
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periportal fibrosis, Elevated hepatic tr...	OMIM:619484
Acute Interstitial Pneumonia	Fatigue, Elevated circulating C-reactive protein concentration, Crackles, Nonproductive cough, Dy...	ORPHA:79126
Glycogen Storage Disease Vii	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Gout, Hematur...	OMIM:232800
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra...	ORPHA:79096
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Myofibrillar Myopathy 10	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Kyphosis, Elbow fl...	OMIM:619040
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T...	OMIM:606176
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Ataxia-Oculomotor Apraxia 4	Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Hyperchol...	OMIM:616267
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car...	ORPHA:79159
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Conjugated hyperbilirubinemia, Mic...	OMIM:617156
Mitochondrial Trifunctional Protein Deficiency	Progressive distal muscle weakness, Rhabdomyolysis, Generalized muscle weakness, Cholestasis, Ske...	ORPHA:746
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir...	OMIM:618528
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Neutral Lipid Storage Myopathy	Hand muscle weakness, Fatty replacement of skeletal muscle, Gowers sign, Cholecystitis, Hepatic s...	ORPHA:98908
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Glycogen Storage Disease Ib	Hepatomegaly, Hypoglycemia, Proteinuria, Splenomegaly, Hyperlipidemia, Osteoporosis, Nephrolithia...	OMIM:232220
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C...	OMIM:602390
Peroxisome Biogenesis Disorder 12A (Zellweger)	Renal tubular dysfunction, Hyperbilirubinemia, Decreased body weight, Atrial septal defect, Eleva...	OMIM:614886
9Q31.1Q31.3 Microdeletion Syndrome	Bicuspid aortic valve, Overweight, Dilated cardiomyopathy, Renovascular hypertension, Type II dia...	ORPHA:401923
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614727
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood u...	OMIM:620085
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Ataxia...	ORPHA:3008
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Poor head control, Hypoglycemia, Elevated circulating aspartate aminotra...	OMIM:245400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Abdominal pain, Cardiomegaly, Inc...	OMIM:235200
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Small for gestational age, Conjugated hyperbilirubinemia, Nephropathy,...	OMIM:208085
Parkinson Disease 22, Autosomal Dominant	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:616710
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ...	OMIM:603358
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotr...	OMIM:614921
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Hsd10 Mitochondrial Disease	Choreoathetosis, Elevated circulating tiglylglycine concentration, Hypoglycemia	OMIM:300438
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Exercise intolerance, Elevated circulating creatine kinase concen...	OMIM:615084
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Lethargy, Pa...	OMIM:251000
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Hypoglycemic seizures, Obesity, Hyperbilirubinemia	OMIM:609734
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Wilson Disease	Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoaciduria, Hypoalbuminemia...	OMIM:277900
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat...	ORPHA:254704
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,...	OMIM:617145
Subaortic Stenosis-Short Stature Syndrome	Short neck, Kyphosis, Biliary tract abnormality, Respiratory insufficiency, Type II diabetes mell...	ORPHA:3191
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Steatorrhea, Failure to thrive	OMIM:235555
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cardiomyopathy, Cataract, Elevated circulating creatine kinase concentration	OMIM:615352
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Multiple pancreatic beta-cell adenomas, Decreased circulating free fatty acid level, Recurrent hy...	ORPHA:79644
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont...	ORPHA:536516
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Hypoglycemia, Elevated circulating alpha-fet...	OMIM:276700
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Jaundice, Tachypnea, Hyperammonemia, Hype...	OMIM:615751
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Urocanic Aciduria	Action tremor, Ataxia, Truncal ataxia, Gait ataxia	ORPHA:210128
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor	OMIM:619738
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia, Unsteady gait, Gait ataxia	OMIM:618158
Mehmo Syndrome	Inability to walk, Hypoglycemia, Difficulty walking, Gait ataxia	OMIM:300148
Idiopathic Congenital Hypothyroidism	Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia	ORPHA:95717
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Inguinal hernia, Cataract, Small for gestational age, Reduced bone mineral density...	OMIM:618392
Argininosuccinic Aciduria	Hepatomegaly, Ataxia, Elevated circulating aspartate aminotransferase concentration, Hyperglutami...	OMIM:207900
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Kyphosis, I...	OMIM:615381
X-Linked Charcot-Marie-Tooth Disease Type 4	Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Kyphosis, Gait disturbance, Scoliosis	ORPHA:101078
Transient Neonatal Diabetes Mellitus	Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ...	ORPHA:99886
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Hypoglycemia, Lethargy	OMIM:210200
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis...	ORPHA:470
Typical Nemaline Myopathy	Waddling gait, Elevated circulating creatine kinase concentration, Facial palsy, Hyperlordosis, S...	ORPHA:171436
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Ataxia, Jaundice, Ascites, Gait distur...	ORPHA:79239
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Obesity, Truncal obesity, Hyperc...	ORPHA:96184
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ...	OMIM:610199
Uruguay Faciocardiomusculoskeletal Syndrome	Elevated hepatic transaminase, Waddling gait, Elevated circulating creatine kinase concentration,...	OMIM:300280
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Proximal muscle weakness in upper limbs, Hypertriglyceridemia, Elevated circulating...	ORPHA:435660
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia	OMIM:618958
Hypermanganesemia With Dystonia 1	Hepatomegaly, Hypermanganesemia, Steppage gait, Increased total iron binding capacity, Unconjugat...	OMIM:613280
Central Core Disease	Neonatal respiratory distress, Multiple joint contractures, Elevated circulating creatine kinase ...	ORPHA:597
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,...	ORPHA:186
Joubert Syndrome 7	Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Scoliosis, Neonatal breathing dysregulation	OMIM:611560
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:605911
Bachmann-Bupp Syndrome	Hypoglycemia, Hyperbilirubinemia, Large for gestational age	OMIM:619075
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Inability to walk, Cataract, Ataxia, Elevated circulating creatine kinase concentration	OMIM:615350
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Joubert Syndrome 9	Episodic tachypnea, Hepatic fibrosis, Apnea, Scoliosis	OMIM:612285
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Hepatomegaly, Increased serum bile acid concentration	OMIM:243300
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, Hypercalcemia, Cranio...	ORPHA:251004
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia	ORPHA:329249
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Glyco...	OMIM:616026
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Apnea, Abnormal hemidiaphragm morphology, Asthma, Tachypnea, Pneum...	ORPHA:2257
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Neoplasm of t...	ORPHA:2126
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Decreased liver function	ORPHA:67048
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased liver function	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased liver function	OMIM:618839
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Elevated transferrin saturation	OMIM:205950
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, Inability to walk, Scoli...	OMIM:616756
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea...	ORPHA:79084
H Syndrome	Hypertriglyceridemia, Diabetes mellitus, Recurrent fractures, Lipodystrophy, Abnormality of the k...	ORPHA:168569
Hepatic Lipase Deficiency	Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplen...	OMIM:619487
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Waddling gait, Hepatomegaly, Elevated circulating creatine kinase concentration, Proximal muscle ...	OMIM:251900
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Atretic gallbladder, ...	ORPHA:30391
Parastremmatic Dwarfism	Kyphosis, Flexion contracture, Scoliosis, Short neck	OMIM:168400
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency, Ataxia, Hyperbilirubinemia	ORPHA:713
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia	OMIM:230350
Sialidosis Type 2	Skeletal muscle atrophy, Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Flexion contracture, Dyspn...	ORPHA:87876
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Ataxia, Hepatic fibrosis, Portal hypertension	OMIM:617341
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Poor head control, Diabetes mellitus, Hypoglycemia, Ataxi...	ORPHA:2609
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Progressive mus...	OMIM:256810
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating aspartate amino...	OMIM:620300
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Splenomegaly, Abnormal ...	OMIM:216360
Fanconi-Bickel Syndrome	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransf...	ORPHA:2088
Primary Sclerosing Cholangitis	Acute hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of the...	ORPHA:171
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Lacticaciduria, Hypoalbumine...	OMIM:613070
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Ra...	OMIM:613561
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Increased proinsulin:insulin ratio, Recurrent hypog...	ORPHA:94086
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Iridodonesis, Ataxia, Hypoplasia of the iris, Joint hyperflexibility, Astigmatism, Hy...	ORPHA:2479
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin level	ORPHA:95715
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:618348
Smith-Magenis Syndrome	Hypertriglyceridemia, Abnormal renal morphology, Increased body weight, Abnormal heart morphology...	OMIM:182290
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Fatigue, Waddling gait, Elevated circulating creatine kinase concentration, Proximal amyotrophy, ...	ORPHA:209335
Dent Disease	Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin...	ORPHA:1652
Familial Thyroid Dyshormonogenesis	Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglo...	ORPHA:95716
Cog4-Cdg	Hypercholesterolemia, Ataxia, Failure to thrive in infancy, Hepatosplenomegaly	ORPHA:263501
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia	OMIM:278780
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Cataract, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Inability to walk, H...	OMIM:608885
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi...	OMIM:615382
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia	OMIM:618049
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Broad-based gait, Neonatal respiratory distress, Ataxia, Crackles, Asthma, ...	OMIM:610978
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Diabetes mellitus, Joint stiffness, Cardiomegaly, Increased circulating ferritin co...	ORPHA:465508
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Ataxia, Distal muscle weakness, Achilles te...	OMIM:616263
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Dyspne...	OMIM:607616
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, Hypoglycemia, Generalized amyotrophy	OMIM:610006
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Flexion contracture, Dysmetria, Hypoalbumine...	OMIM:212065
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ...	OMIM:616878
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Exercise intolerance, Elevated circulating creatine kinase concen...	ORPHA:352447
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice, Neonat...	ORPHA:199296
2P21 Microdeletion Syndrome	Hypoglycemia, Hypocalcemia	ORPHA:163693
Rajab Interstitial Lung Disease With Brain Calcifications 1	Exercise intolerance, Elevated hepatic transaminase, Hypoglycemia, Portal hypertension, Cough, Ta...	OMIM:613658
Galactose Mutarotase Deficiency	Hepatomegaly, Hypergalactosemia, Cholestasis, Decreased liver function	ORPHA:570422
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Long pen...	ORPHA:508
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce...	OMIM:300972
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Diabetes mellitus, Foot joint contracture, Facial palsy, Ataxia, Achilles tendon co...	ORPHA:456312
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Inability to walk, Flexion contracture, Nephrotic syndro...	OMIM:617303
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hypoglycemia, Hyperuricemia, Hyperammonemia	OMIM:246450
Endocardial Fibroelastosis	Hypoglycemia	ORPHA:2022
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio...	OMIM:231680
Transaldolase Deficiency	Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Decreas...	OMIM:606003
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Inability to walk, Hyperalaninemia, Hypoglycemia, Hyperammonemia	OMIM:614739
Dominant Beta-Thalassemia	Diabetes mellitus, Hypoplasia of the musculature, Hepatocellular carcinoma, Hypersplenism, Spleno...	ORPHA:231226
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr...	OMIM:277460
Aceruloplasminemia	Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Ac...	OMIM:604290
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia	OMIM:613986
Cdkl5-Deficiency Disorder	Impaired pain sensation, Kyphosis, Abnormal respiratory system physiology, Gait disturbance, Diff...	ORPHA:505652
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Urinary incontinence, Spinal muscular atrophy, Camptodactyly of finger, Denervation of the diaphr...	OMIM:604320
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity	OMIM:213200
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Increased bone mineral density, Splenomegaly, Cranial hyperostosis, Hepatosplenomeg...	OMIM:259720
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Ascites	OMIM:614702
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Cataract, Elevated circulating creatine kinase concentration	OMIM:615184
Car T Cell Therapy-Associated Cytokine Release Syndrome	Fatigue, Elevated hepatic transaminase, Tachypnea, Elevated circulating creatinine concentration,...	ORPHA:542323
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Poor head control, Hypoglycemia, Hypoalbuminemia, Macrovesicular h...	OMIM:618329
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia	ORPHA:306669
Cog8-Cdg	Elevated hepatic transaminase, Skeletal muscle atrophy, Poor head control, Hypoglycemia, Ataxia	ORPHA:95428
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus	OMIM:619028
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Fatigue, Elevated circulating creatine kinase concentration, Hyperlordosis, Skeletal muscle hyper...	OMIM:613157
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr...	OMIM:603553
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia	OMIM:601775
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Elevated...	OMIM:615673
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide...	OMIM:615238
Cholera	Hyponatremia, Hypoglycemia, Abdominal pain, Tachypnea, Abnormal blood ion concentration, Hypokale...	ORPHA:173
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Lethargy, Hyperammonemia	ORPHA:28
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Ataxia, Elevated circulating creatine kinase concentration, Centrally nu...	OMIM:248800
Hypertriglyceridemia 1	Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia	ORPHA:139485
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ...	OMIM:309000
Cystic Echinococcosis	Hepatomegaly, Bone cyst, Renal cyst, Abnormal heart morphology, Weight loss, Membranous nephropat...	ORPHA:400
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Short neck, Respiratory insufficiency due to muscle weakness, Kyphosis, ...	OMIM:611890
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Cataract, Hype...	OMIM:606721
Bile Acid Synthesis Defect, Congenital, 4	Decreased serum bile acid concentration, Hepatomegaly, Failure to thrive, Hyperbilirubinemia	OMIM:214950
Pulmonary Alveolar Microlithiasis	Fatigue, Hepatomegaly, Abnormal circulating calcium concentration, Nonproductive cough, Dyspnea, ...	ORPHA:60025
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Proteinuria, Hyperlipidemia, Osteop...	ORPHA:79259
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Joint stiffness, Renal hypoplasia/aplasia, Ab...	ORPHA:819
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Beta-Thalassemia Major	Hepatomegaly, Diabetes mellitus, Hypoplasia of the musculature, Hepatocellular carcinoma, Hypersp...	ORPHA:231214
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis	OMIM:618323
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cholestatic liver disease, Hypoglycemia, Hypoketotic hypoglycemia	ORPHA:5
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Broad-based gait, Elevated circulating alanine aminotransferase concentration, Hypo...	OMIM:618805
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me...	ORPHA:240085
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia	OMIM:617916
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Respiratory insufficiency...	OMIM:254090
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia	ORPHA:172
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Obesity, Gout, Nephrocalcinosi...	ORPHA:90041
Biotinidase Deficiency	Hepatomegaly, Ataxia, Apnea, Splenomegaly, Tachypnea, Hyperammonemia	OMIM:253260
Axial Osteomalacia	Myopathy, Polycystic liver disease, Elevated circulating creatine kinase concentration, Proximal ...	OMIM:109130
Hsd10 Disease, Infantile Type	Poor head control, Hypoglycemia, Cardiomegaly, Hyperammonemia, Choreoathetosis, Loss of ambulation	ORPHA:391428
Senior-Boichis Syndrome	Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con...	ORPHA:84081
Spastic Paraplegia 29, Autosomal Dominant	Urinary incontinence, Neonatal hyperbilirubinemia, Hiatus hernia, Urinary urgency, Urinary hesita...	OMIM:609727
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79333
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	ORPHA:329284
Lipodystrophy, Congenital Generalized, Type 4	Exercise intolerance, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Elevated...	OMIM:613327
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Cataract, Elevated circulating creatine kinase concentration, Achilles tendon contracture, Obesit...	OMIM:615418
Graft Versus Host Disease	Dupuytren contracture, Fasciitis, Lipodystrophy, Limited elbow movement, Limited shoulder movemen...	ORPHA:39812
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Impaired vibratory sensation, Tachypnea, Spastic gai...	ORPHA:415
Tetanus	Rigors, Respiratory distress, Elevated circulating creatine kinase concentration, Bowel incontine...	ORPHA:3299
Neuhauser Syndrome	Osteopenia, Iridodonesis, Ataxia, Hypoplasia of the iris, Hypercholesterolemia, Megalocornea	OMIM:249310
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni...	OMIM:619725
Glutaric Acidemia I	Choreoathetosis, Elevated circulating glutaric acid concentration, Hypoglycemia, Hepatomegaly	OMIM:231670
Congenitally Uncorrected Transposition Of The Great Arteries	Hepatomegaly, Maternal diabetes, Cardiomegaly, Tachypnea, Hypoxemia, Right ventricular hypertrophy	ORPHA:860
Cholestasis-Lymphedema Syndrome	Fatigue, Hepatomegaly, Portal hypertension, Abdominal pain, Splenomegaly, Hyperlipidemia, Jaundic...	ORPHA:1414
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin...	OMIM:618877
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia, Dystonia	OMIM:619911
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:300842
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Hypoglycemia, Lethargy	OMIM:229700
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Hypospadias, Splenomegaly, Hepatosplenomegaly, Micropenis, Weight loss, Unconjugate...	OMIM:613673
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia, Hepatomegaly, Failure to thrive, Splenomegaly	OMIM:601847
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Hyperamylasemia, Band keratopathy, Impaired renal tubular reabsorption of bicarbonate, ...	OMIM:604278
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Hepatomegaly, Abnormal urinary color	ORPHA:234
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Diastasis recti, Neonatal hypoglycemia	ORPHA:231140
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal...	OMIM:300770
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis...	ORPHA:98907
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, Abnorm...	ORPHA:423
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Dicarboxylic aciduria, Conjugated hyperbilirubinemia, Increased circulating very lo...	OMIM:614887
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Ataxia, Impaired pain sensation, Kyphosis, Unsteady gait, Distal sensory impairment, Scoliosis, L...	OMIM:618124
Methionine Malabsorption Syndrome	Tachypnea, Positive ferric chloride test	OMIM:250900
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Diabetes mellitus, Maternal di...	ORPHA:79083
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	OMIM:603552
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Chronic fatigue, Hypersplenism, Splenomegaly, Bone pain, Hypocholesterolemia	OMIM:610539
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Hypoglycemia, Proteinuria, Ataxia, Mesangial h...	OMIM:617575
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Ataxia, Microvesicula...	OMIM:124000
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatic fibrosis, Cirrhosis, Hepatomegaly	OMIM:601539
Bacterial Toxic-Shock Syndrome	Pain, Respiratory distress, Myositis, Sinusitis, Elevated circulating creatine kinase concentrati...	ORPHA:36234
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Dyspnea, Tachypnea, Hypophosphatemia	OMIM:239200
Senior-Loken Syndrome 9	Hepatic fibrosis, Cholestasis	OMIM:616629
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Hepatic failure, M...	OMIM:611126
Gaucher Disease Type 2	Respiratory distress, Hepatomegaly, Splenomegaly, Flexion contracture, Cough, Abnormal pattern of...	ORPHA:77260
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Hypokalemia, Portal fibrosis, Hepatic fibrosis, In...	OMIM:619377
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi...	OMIM:608612
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Ataxia, Hypoglycemia, Dysmetria, Athetosis, Generalized amyotrophy, Musc...	OMIM:617710
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Ataxia, Elevated circulating c...	OMIM:608799
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Splenomegaly, Arthrit...	OMIM:210250
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi...	OMIM:615157
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Ataxia, Hyperammonemia	ORPHA:79242
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney	OMIM:615285
Spastic Paraplegia 46, Autosomal Recessive	Impaired vibratory sensation, Urinary incontinence, Kyphosis, Impaired vibration sensation in the...	OMIM:614409
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myoclonus, Head tremor,...	ORPHA:420492
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Abnormal urinary color, Increased total bilirubin	ORPHA:90037
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Kyphosis, Myopathy, Macrovesicular hepatic steatosis, Scoliosis	OMIM:618234
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Cataract, Elevated circulating creatine kinase concentration, Osteolysis, Increase...	ORPHA:52430
Relapsing Fever	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91547
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb...	OMIM:261640
Peroxisome Biogenesis Disorder 5A (Zellweger)	Atrial septal defect, Hepatomegaly, Cataract, Ventricular septal defect, Hypospadias, Small for g...	OMIM:614866
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines...	ORPHA:391411
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Intention tremor	OMIM:610185
Glut1 Deficiency Syndrome 2	Tremor, Ataxia, Choreoathetosis, Dystonia	OMIM:612126
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Respiratory distress, Porta...	ORPHA:367
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic...	ORPHA:79263
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Corneal arcus, Xanthelasma	OMIM:603776
Fructose Intolerance, Hereditary	Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonaturia, Proximal ...	OMIM:229600
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Epilepsy, Progressive Myoclonic, 6	Tremor, Ataxia, Myoclonus	OMIM:614018
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Inguinal hernia, Large for gestational age, Umbilical hernia, Nephroblastoma, Enlarged kidney	OMIM:618272
Mucolipidosis Ii Alpha/Beta	Osteopenia, Hepatomegaly, Inguinal hernia, Increased serum beta-hexosaminidase, Craniosynostosis,...	OMIM:252500
High Altitude Pulmonary Edema	Exercise intolerance, Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Chest pain, Cough	ORPHA:330012
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,...	ORPHA:79345
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia, Hepatomegaly	OMIM:605479
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Kyphosis, Skeletal muscle hypertrophy, Gait disturbance, Scoliosis	ORPHA:99014
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Congenital Dyserythropoietic Anemia Type Iii	Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia	ORPHA:98870
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ...	ORPHA:480864
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia	OMIM:615453
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia	OMIM:615710
Spherocytosis, Type 4	Splenomegaly, Hyperbilirubinemia	OMIM:612653
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Increased serum bile acid concentration, Hyperbilirubinemia, Mild proteinuria	OMIM:619685
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Hypoglycemia	ORPHA:231147
Pyruvate Dehydrogenase Deficiency	Ataxia, Dyspnea, Tachypnea, Choreoathetosis, Gait disturbance	ORPHA:765
Scorpion Envenomation	Pain, Acute pancreatitis, Increased circulating NT-proBNP concentration, Ataxia, Elevated circula...	ORPHA:466677
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Dyspnea, Abnormal respiratory system physiology, Chest pain, ...	ORPHA:50251
Hereditary Spherocytosis	Hepatomegaly, Ataxia, Splenomegaly, Gout, Hyperbilirubinemia, Restrictive cardiomyopathy	ORPHA:822
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Hyperalaninemia, Leth...	OMIM:619064
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Tremor, Rigidity, Dysmetria, Gait ataxia	OMIM:618090
Acquired Aneurysmal Subarachnoid Hemorrhage	Left ventricular hypertrophy, Hypercholesterolemia, Hyperglycemia	ORPHA:90065
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Tremor, Ataxia, Dysmetria, Gait ataxia	OMIM:618387
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Pyruvate Kinase Deficiency Of Red Cells	Splenomegaly, Hepatomegaly, Reduced haptoglobin level, Unconjugated hyperbilirubinemia	OMIM:266200
Alpha-Mannosidosis	Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Macroglossia, Type II diabetes mellitus, Scoliosis	ORPHA:61
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia	ORPHA:70594
Glycogen Storage Disease Xii	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Jaundice, Elevate...	OMIM:611881
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Bulbar palsy, Poor head control, Hypoglycemia, Elevated circulating creatine kinase concentration...	OMIM:619055
Chronic Bilirubin Encephalopathy	Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h...	ORPHA:529808
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Acute Bilirubin Encephalopathy	Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h...	ORPHA:529799
Cryptogenic Organizing Pneumonia	Fatigue, Respiratory distress, Bronchial breath sound, Elevated circulating C-reactive protein co...	ORPHA:1302
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Congenital Myopathy 22A, Classic	Fatigue, Hip contracture, Thoracic scoliosis, Scapular winging, Waddling gait, Spinal rigidity, C...	OMIM:620351
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Joint stiffness, Heparan sulfate excretion in urine, Inability to walk, Flexion cont...	ORPHA:505248
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Hyperammonemia, Dysmetria, Hyperornithinemia, Dysdiadochokinesis, Decreased liver f...	OMIM:238970
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Linear Verrucous Nevus Syndrome	Cataract, Abnormality of the kidney, Reduced bone mineral density, Abnormal cornea morphology, Hy...	ORPHA:2611
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Diaphragmatic eventration, Ataxia, Microvesicular hepatic steatosi...	ORPHA:66634
Trichohepatoenteric Syndrome 1	Hepatomegaly, Abnormality of the pancreas, Splenomegaly, Jaundice, Cholestasis, Increased serum i...	OMIM:222470
Hypotonia-Cystinuria Syndrome	Facial palsy, Neonatal hypoglycemia, Ragged-red muscle fibers, Hypocalcemia, Muscle weakness	OMIM:606407
Sickle Cell Anemia	Osteoporosis, Osteomyelitis, Elevated circulating creatinine concentration, Unconjugated hyperbil...	ORPHA:232
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Ataxia, Facial myokymia	OMIM:620007
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp...	ORPHA:85445
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Insulin resistance, Enlarged ki...	ORPHA:90301
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Hepatic steatosis, Hypoketoti...	OMIM:231530
Myopathy, Centronuclear, 2	Waddling gait, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle...	OMIM:255200
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:79302
Spherocytosis, Type 1	Splenomegaly, Hyperbilirubinemia	OMIM:182900
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Xanthelasma	OMIM:144010
Dehydrated Hereditary Stomatocytosis 2	Splenomegaly, Hepatomegaly, Hyperbilirubinemia	OMIM:616689
Lathosterolosis	Cataract, Osteoporosis, Horseshoe kidney, Hepatosplenomegaly, Abnormal circulating cholesterol co...	OMIM:607330
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Polymyositis	Fatigue, Hepatomegaly, Elevated circulating creatine kinase concentration, Abdominal pain, Abnorm...	ORPHA:732
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:300635
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Hyperbilirubinemia	OMIM:235700
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Renal tubular dy...	ORPHA:69076
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c, Ataxia	OMIM:616113
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop...	OMIM:607060
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hepatomegaly, Chorea, Hyperammonemia, Choreoathetosis, Pancreatitis	ORPHA:289916
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hepa...	ORPHA:79085
Spherocytosis, Type 2	Splenomegaly, Hyperbilirubinemia	OMIM:616649
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Inguinal hernia...	OMIM:608022
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, Ar...	OMIM:604250
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Abnormality of the kidney, Abnormal renal cortex morphology, Osteolysis involvin...	ORPHA:464321
Peroxisome Biogenesis Disorder 7A (Zellweger)	Hepatomegaly, Cataract, Elevated circulating hexacosanoic acid concentration, Epiphyseal stipplin...	OMIM:614872
Mednik Syndrome	Cirrhosis, Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concen...	OMIM:609313
Acth Deficiency, Isolated	Jaundice, Fasting hypoglycemia, Cholestasis	OMIM:201400
Classic Hodgkin Lymphoma	Fatigue, Hepatomegaly, Ataxia, Splenomegaly, Bone pain, Respiratory insufficiency, Chest pain, Cough	ORPHA:391
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Ataxia	OMIM:610688
Flynn-Aird Syndrome	Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Kyphosis, Type II diabetes mellitus, Sc...	ORPHA:2047
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Abdominal pain, Splenomegaly, Hyperammonemia, Choreoathetosis...	ORPHA:79312
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Ataxia, Elevated circulating creatine...	OMIM:615356
Hereditary Fructose Intolerance	Hepatomegaly, Reactive hypoglycemia, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, ...	ORPHA:469
Alg1-Cdg	Kyphosis, Respiratory failure, Hypoalbuminemia, Decreased liver function, Scoliosis	ORPHA:79327
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Poor head control, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:614924
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Small for gestational age, Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi...	OMIM:557000
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Fatigue, Hepatomegaly, Acute hyperammonemia, Respiratory distress, Ataxia, Hyperglutaminemia, Hyp...	ORPHA:927
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Flexion contracture, Congenital diaphragmatic hernia	OMIM:263210
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,...	ORPHA:101
Alpha-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Ascites, Hypocalcemia	ORPHA:100025
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis	OMIM:614831
Bardet-Biedl Syndrome	Skeletal muscle atrophy, Hepatic fibrosis	ORPHA:110
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Tachypnea, Hyperhomocystinemia, Elevated circulating p...	OMIM:614857
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Microvesicular hepatic steato...	OMIM:619418
Mitochondrial Complex I Deficiency, Nuclear Type 33	Loss of ambulation, Hypoglycemia, Hyperammonemia	OMIM:618253
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait	OMIM:616795
Spinocerebellar Ataxia With Epilepsy	Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys...	ORPHA:254881
Distal Xq28 Microduplication Syndrome	Tip-toe gait, Patent foramen ovale, Neonatal hyperbilirubinemia	ORPHA:293939
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Elevated circulating aspartate aminotransfer...	OMIM:608779
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Abnormal circulating fatty-acid concentration, Enlarged polycystic ovaries, Ins...	ORPHA:2298
Cystathioninuria	Tremor	ORPHA:212
Lopes-Maciel-Rodan Syndrome	Tremor, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia, Spasticity	OMIM:617435
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Reduced vital capacity, Short neck, Kyphosis, Flexion contracture, Respiratory insufficiency, Sco...	ORPHA:178148
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Abnormal...	ORPHA:2348
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Ataxia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar v...	OMIM:230650
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Congenital muscular dystrophy, Gait disturbance	ORPHA:1875
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Bilateral fetal pyelectasis, Increased urine succinate level...	OMIM:606812
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Joint contracture, Cataract, Elevated circulating creatine kinase concentration	OMIM:615351
Infantile Refsum Disease	Hepatomegaly, Ataxia, Facial palsy, Progressive muscle weakness, Elevated circulating phytanic ac...	ORPHA:772
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly,...	ORPHA:308552
Beta-Thalassemia Intermedia	Osteopenia, Hepatomegaly, Diabetes mellitus, Splenomegaly, Osteoporosis, Reduced bone mineral den...	ORPHA:231222
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Opisth...	OMIM:607483
Neurooculorenal Syndrome	Iris atrophy, Decreased circulating cortisol level, Hypoplasia of the bladder, Dextrocardia, Unil...	OMIM:620305
Alagille Syndrome 1	Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Atrial septal defect, A...	OMIM:118450
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Congenital hepatic fibr...	ORPHA:1454
Meckel Syndrome, Type 8	Pericardial effusion, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney	OMIM:613885
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Respiratory failure, Tachypnea, Cough	OMIM:263000
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Diabetes mellitus, Cataract, Ataxia, Unilateral renal agenesis, Ectopic kidney, ...	OMIM:616541
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity	ORPHA:1170
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly...	ORPHA:565612
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenit...	ORPHA:731
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Kyphosis, Lower limb hypertonia, Gait disturbance, Upper limb hyper...	OMIM:614898
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Isolated Thyroid-Stimulating Hormone Deficiency	Failure to thrive, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Hyperchole...	ORPHA:90674
Whipple Disease	Hyponatremia, Fatigue, Hepatomegaly, Myositis, Ataxia, Abdominal pain, Splenomegaly, Insulin resi...	ORPHA:3452
Glycosylphosphatidylinositol Biosynthesis Defect 15	Tremor, Dysmetria, Gait ataxia, Apraxia, Spasticity	OMIM:617810
Complete Atrioventricular Septal Defect	Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Wheezing, Tachypnea, Recurrent pne...	ORPHA:1329
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Hepatitis, Hyperuricemia, Type I diabete...	ORPHA:199299
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Thoracolumbar scoliosis, Kyphosis, Respiratory insufficiency, Knee flexion contr...	OMIM:313420
Houge-Janssens Syndrome 1	Fatigue, Congenital muscular torticollis, Facial hypotonia, Hypoglycemia, Gait ataxia, Scoliosis	OMIM:616355
Galactosemia I	Hepatomegaly, Cataract, Increased level of galactitol in plasma, Aminoaciduria, Albuminuria, Gala...	OMIM:230400
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Ataxia, Dysmetria, Titubation	OMIM:619405
Exercise-Induced Malignant Hyperthermia	Fatigue, Ataxia, Elevated circulating creatine kinase concentration, Crackles, Rhabdomyolysis, Hy...	ORPHA:466650
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Camptodactyly	OMIM:618453
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Increased total bilirubin	ORPHA:90036
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Short neck, Tachypnea, Pulmonary arterial hypertension, Dysplastic sacrum, Severe p...	OMIM:613320
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism	ORPHA:178509
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Reduced bone mineral density, Abnormality of iron homeostasis, Hypert...	ORPHA:848
Rh Deficiency Syndrome	Jaundice, Tachypnea, Hepatosplenomegaly, Hypoxemia, Hyperbilirubinemia, Reduced haptoglobin level	ORPHA:71275
Hemoglobin H Disease	Splenomegaly, Hepatomegaly	OMIM:613978
Farber Disease	Elevated hepatic transaminase, Skeletal muscle atrophy, Intrahepatic cholestasis with episodic ja...	ORPHA:333
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph...	OMIM:128100
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Skeletal muscle hypertro...	ORPHA:435651
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Kyphosis, Impaired proprioception, Upper limb hypertonia	ORPHA:319199
Congenital Erythropoietic Porphyria	Osteopenia, Scarring, Increased connective tissue, Abnormal circulating porphyrin concentration, ...	ORPHA:79277
Dehydrated Hereditary Stomatocytosis	Splenomegaly, Increased circulating ferritin concentration, Abnormal blood potassium concentratio...	ORPHA:3202
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly...	OMIM:203800
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Splenomegaly, Decreased glucose-6-phosphate dehydrogenase level in blood, Hemoglobinuria, Unconju...	OMIM:300908
Joubert Syndrome 23	Tachypnea, Apnea	OMIM:616490
Congenital Bile Acid Synthesis Defect Type 4	Type II diabetes mellitus, Cataract, Ataxia, Elevated circulating creatine kinase concentration	ORPHA:79095
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Facial hypotonia, Elevated circulating alpha-fetopro...	OMIM:615273
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Tachypnea, Left ventricular noncompaction	OMIM:616501
Anemia, Congenital Dyserythropoietic, Type Ia	Splenomegaly, Hepatomegaly, Small for gestational age, Hyperbilirubinemia	OMIM:224120
Hypermanganesemia With Dystonia 2	Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthotonus, ...	OMIM:617013
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Facial palsy, Elevated circulating creatine kinase concentration, Generalized muscl...	OMIM:619424
Leishmaniasis	Fatigue, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Night sweats, Arthralgia, Hyp...	ORPHA:507
Bardet-Biedl Syndrome 1	Diabetes mellitus, Ataxia, Insulin resistance, Biliary tract abnormality, Hepatic fibrosis, Gait ...	OMIM:209900
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Acute hyperammonemia, Hypoglycemia, Hyperammonemia, Hyperleucinemia, Let...	OMIM:210210
Chanarin-Dorfman Syndrome	Hepatomegaly, Ataxia, Myopathy, Hepatic steatosis, Muscle weakness	OMIM:275630
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Hepatomegaly, Hyperbilirubinemia	OMIM:185000
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia, Ataxia, Proximal muscle weakness in lower limbs, Type II diabetes mellitus, Hypoins...	ORPHA:453533
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Arthralgia, Scoliosis	OMIM:252605
Typhoid	Fatigue, Hepatomegaly, Ataxia, Epistaxis, Abdominal pain, Splenomegaly, Arthralgia, Myalgia, Cough	ORPHA:99745
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Abnormality of the musculature of the lower limbs, Ataxia, Urinary incontinence, K...	ORPHA:464282
Liver Disease, Severe Congenital	Cardiomegaly, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Atrial septal def...	OMIM:619991
Hereditary Cryohydrocytosis With Reduced Stomatin	Cataract, Ataxia, Conjugated hyperbilirubinemia, Hepatosplenomegaly, Zonular cataract	ORPHA:168577
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia...	OMIM:137440
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D...	OMIM:610921
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Le...	ORPHA:534
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly	OMIM:606445
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Exercise intolerance, Hepatomegaly, Respiratory distress, Ataxia, Respiratory insufficiency due t...	OMIM:220110
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis, Elevated circulating C-reactive protein concentration, Tachypn...	OMIM:615934
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic...	OMIM:609812
Hardikar Syndrome	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy...	OMIM:301068
Low Phospholipid-Associated Cholelithiasis	Overweight, Hypercholesterolemia, Diabetes mellitus, Obesity	ORPHA:69663
Cirrhotic Cardiomyopathy	Exercise intolerance, Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricul...	ORPHA:57777
Adult-Onset Still Disease	Fatigue, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating C-reactive protein con...	ORPHA:829
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, V...	ORPHA:116
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Hypothyroidism Due To Tsh Receptor Mutations	Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Increased circulating thyrogl...	ORPHA:90673
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Gait disturbance, Ataxia, Scoliosis	ORPHA:85317
Hypoparathyroidism, Familial Isolated, 1	Cataract, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Masa Syndrome	Kyphosis, Shuffling gait, Hyperlordosis	OMIM:303350
Intrahepatic Cholestasis Of Pregnancy	Increased serum bile acid concentration, Small for gestational age, Hyperbilirubinemia	ORPHA:69665
Muscle-Eye-Brain Disease	Cataract, Gait disturbance, Elevated circulating creatine kinase concentration	ORPHA:588
Werner Syndrome	Cataract, Hypertriglyceridemia, Elevated hemoglobin A1c, Diabetes mellitus, Osteoporosis, Reduced...	OMIM:277700
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Elevated circulating creatine kinase concentration, Cardiomegaly, Flexion c...	ORPHA:365
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Ataxia, Hyperammonemia, Choreoathetosis, Lethargy, Pancreatitis	ORPHA:27
Lysosomal Acid Lipase Deficiency	Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Spinocerebellar Ataxia Type 27	Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia	ORPHA:98764
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Hyperkalemi...	OMIM:614736
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Skeletal muscle atrophy, Poor head control, Hypoglycemia, Ataxia, Splenomegaly, Rag...	OMIM:252010
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Increased bone mineral density, Cataract, Hyperphosphatemia, Conjunctivi...	ORPHA:36913
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Splenomegaly, Cirrhosis, Hepatic failure, Li...	OMIM:613489
Joubert Syndrome 1	Macroglossia, Poor head control, Hepatic fibrosis, Ataxia	OMIM:213300
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Cataract, Ventricular septal defect, Renal cyst...	ORPHA:488618
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita	OMIM:618393
Meckel Syndrome, Type 6	Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts	OMIM:612284
Joubert Syndrome 3	Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:608629
Juvenile Neuronal Ceroid Lipofuscinosis	Loss of ambulation, Apnea, Episodic tachypnea, Aspiration pneumonia	ORPHA:79264
Timothy Syndrome	Hypoglycemia, Hypocalcemia, Cardiomegaly	OMIM:601005
Joubert Syndrome	Ataxia, Apnea, Episodic tachypnea, Abnormal form of the vertebral bodies, Gait disturbance, Scoli...	ORPHA:475
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations	OMIM:313200
Joubert Syndrome 30	Tachypnea, Apnea	OMIM:617622
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Decreased circulating plasmalogen concentration, Cataract, Inguinal hernia, Failure t...	OMIM:222765
Creatine Phosphokinase, Elevated Serum	Fatigue, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, My...	OMIM:123320
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis, Congenital fibrosis of extraocular muscles	OMIM:609384
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Kyphosis, Hyperinsulinemia, Type II diabetes mellitus, Hyperlordosis	ORPHA:3085
Wilson Disease	Back pain, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaun...	ORPHA:905
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Prolonged neonatal jaundice	OMIM:618512
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Respiratory distress, Respiratory failure requiring...	OMIM:211530
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Distal muscle weakness, Broad-based gait, Diabetes mellitus, Hypoglycemia	ORPHA:391408
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Pancreatic cysts, J...	OMIM:208500
Niemann-Pick Disease, Type A	Hepatomegaly, Skeletal muscle atrophy, Elevated circulating aspartate aminotransferase concentrat...	OMIM:257200
Portal Hypertension, Noncirrhotic, 2	Fatigue, Hepatomegaly, Elevated hepatic transaminase, Epistaxis, Portal hypertension, Nodular reg...	OMIM:619463
Cardiocranial Syndrome, Pfeiffer Type	Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, T...	ORPHA:2872
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora...	OMIM:311510
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Intraalveolar phospholipid accumulation...	OMIM:265120
Mucopolysaccharidosis, Type Iva	Waddling gait, Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the...	OMIM:253000
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Elevated circulating creatine kinase concentration, Limited elbow movement, Cardiomegaly, Inabili...	ORPHA:268
Free Sialic Acid Storage Disease	Hepatomegaly, Ataxia, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Athetos...	ORPHA:834
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Progressive external ophthalmoplegia, Elevated circu...	OMIM:617713
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomegaly, Tachypnea, Hypoxe...	ORPHA:555874
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Refsum Disease, Classic	Cataract, Ataxia, Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy,...	OMIM:266500
Hereditary Elliptocytosis	Splenomegaly, Neonatal hyperbilirubinemia, Hyperbilirubinemia	ORPHA:288
Isolated Atp Synthase Deficiency	Hepatomegaly, Ataxia, Ophthalmoplegia, Hyperammonemia, Muscle weakness, Hyperalaninemia, Lethargy	ORPHA:254913
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Calf muscle pseudohypertrophy, Insulin-re...	ORPHA:79086
Behr Syndrome	Ataxia, Tremor, Babinski sign, Dysmetria, Progressive spasticity, Truncal ataxia, Frequent falls	OMIM:210000
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Autoimmune Hepatitis	Splenomegaly, Arthritis, Glomerulonephritis, Increased total bilirubin	ORPHA:2137
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Scoliosis	OMIM:610743
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney	OMIM:200995
Pseudohypoparathyroidism, Type Ic	Cataract, Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response...	OMIM:612462
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hypoglycemia	ORPHA:231137
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Osteoma...	ORPHA:3337
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis	ORPHA:85288
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Spasticity	OMIM:607694
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Chronic fatigue, Intrahepatic cholestasis with episo...	ORPHA:100085
Joubert Syndrome With Oculorenal Defect	Tachypnea, Ataxia, Apnea, Scoliosis	ORPHA:2318
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Hypoglycemia	OMIM:608688
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	OMIM:300894
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Osteopenia, Calcinosis, Cataract, Splenomegaly, Inability to walk, Renal hypoplasia...	OMIM:617913
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Scoliosis	OMIM:300434
Histiocytoid Cardiomyopathy	Exercise intolerance, Hepatomegaly, Hypoglycemia, Cardiomegaly, Tachypnea, Cough	ORPHA:137675
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Elevated circulating creatine ...	ORPHA:329178
Pseudohypoparathyroidism, Type Ia	Cataract, Osteoporosis, Obesity, Hyperphosphatemia, Subcutaneous ossification, Low urinary cyclic...	OMIM:103580
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal de...	OMIM:619534
Syndromic Diarrhea	Hepatomegaly, Splenomegaly, Abnormality of the liver, Hepatic fibrosis, Abnormality of iron homeo...	ORPHA:84064
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Gait disturbance, Scoliosis	ORPHA:2429
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Dysmetria, Ascites, Muscle wea...	OMIM:256550
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Bowel incontinence, Kyphosis, Impaired vibration sensation in the lower limbs, Chronic pa...	ORPHA:88628
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Ascites, Hepatic fibrosis	OMIM:614091
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Respiratory insufficienc...	OMIM:618278
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Skeletal muscle atrophy, Hyp...	ORPHA:17
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Abdominal pain, Splenomegaly...	ORPHA:85414
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Ventricular septal defect, Hypospadias, Hypocalcemia, Hy...	ORPHA:163979
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Inguinal hernia, Cataract, Proteinuria, Glomerulonephritis, Elevated circulating cr...	OMIM:614376
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia	OMIM:618060
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Facial palsy, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Hypoxemia, Restr...	OMIM:612387
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Citrullinemia, Classic	Hepatomegaly, Ataxia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis...	OMIM:215700
Hemifacial Atrophy, Progressive	Trigeminal neuralgia, Kyphosis, Ataxia	OMIM:141300
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Increased myocardial glycoge...	OMIM:261740
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Dystonia, Spasticity	ORPHA:542310
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Gait ataxia, Limb hypertonia	ORPHA:500180
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Transposition of the great arteries, Neonatal death, Atrioventric...	OMIM:314390
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, Poor head control, Ataxia, Cholangitis, Pancreatic cysts, Congenital hepatic fibros...	OMIM:266920
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Skeletal muscle steatosis...	ORPHA:436271
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con...	OMIM:156530
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Arthrogryposis, Distal, Type 5	Exercise intolerance, Decreased muscle mass, Reduced forced expiratory volume in one second, Kyph...	OMIM:108145
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia	OMIM:248360
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Myopathy, Generalized limb muscle atrophy, Scoliosis	ORPHA:2598
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Conjunctival icterus, Ch...	ORPHA:447
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Unsteady gait, Ataxia, Scoliosis	OMIM:300861
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Cardiomyopathy, Dilated, 2H	Tachypnea, Cardiorespiratory arrest	OMIM:620203
Aredyld Syndrome	Hepatomegaly, Splenomegaly, Type II diabetes mellitus, Scoliosis, Type I diabetes mellitus	ORPHA:1133
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Ascites, Hypercalcemia	ORPHA:2123
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary...	ORPHA:2414
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Multifocal Atrial Tachycardia	Dyspnea, Tachypnea	ORPHA:3282
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Flexion contracture, Myopathy	OMIM:618237
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Poor head control, Elevated circulating aspartate aminotransferase concentration, M...	OMIM:615595
Combined Oxidative Phosphorylation Defect Type 39	Poor head control, Congenital foot contractures, Tip-toe gait, Muscle weakness, Loss of ambulatio...	ORPHA:565624
Ogden Syndrome	Global glomerulosclerosis, Inguinal hernia, Bicuspid aortic valve, Left atrial enlargement, Ventr...	OMIM:300855
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Bardet-Biedl Syndrome 20	Proteinuria, Obesity, Astigmatism, Atrial septal defect, Hypercholesterolemia, Micropenis	OMIM:619471
Gracile Syndrome	Decreased transferrin saturation, Increased circulating ferritin concentration, Renal Fanconi syn...	ORPHA:53693
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Hypoglycemia, Ataxia, Distal muscle weaknes...	ORPHA:506
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:168600
Ethylene Glycol Poisoning	Ataxia, Facial palsy, Flank pain, Tachypnea, Hyperkalemia, Episodic respiratory distress, Hypocal...	ORPHA:31826
Winchester Syndrome	Kyphosis	OMIM:277950
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy, Cataract, Elevated circulating phytanic acid concentration, Ataxia	OMIM:614879
Cockayne Syndrome Type 2	Hepatomegaly, Ataxia, Kyphosis, Flexion contracture, Gait disturbance, Scoliosis, Difficulty walk...	ORPHA:90322
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci...	OMIM:614582
Sialidosis Type 1	Skeletal muscle atrophy, Ataxia, Splenomegaly, Kyphosis, Abnormal form of the vertebral bodies, G...	ORPHA:812
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia, Chronic pancreatitis, Myopathy, Muscular d...	OMIM:307030
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Episodic tachypnea	ORPHA:163961
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity	ORPHA:209902
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity	OMIM:616840
Cocaine Intoxication	Respiratory distress, Elevated circulating creatine kinase concentration, Abdominal pain, Flank p...	ORPHA:90068
Degcags Syndrome	Osteopenia, Bilateral renal hypoplasia, Atrial septal defect, Patent foramen ovale, Hepatomegaly,...	OMIM:619488
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypoglycemia, Ataxia, Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis, ...	OMIM:220111
Borjeson-Forssman-Lehmann Syndrome	Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis	OMIM:301900
Hyperparathyroidism, Transient Neonatal	Osteopenia, Inguinal hernia, Recurrent fractures, Unilateral renal agenesis, Subperiosteal bone f...	OMIM:618188
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe...	ORPHA:240071
Silver-Russell Syndrome 1	Fasting hypoglycemia, Hepatocellular carcinoma	OMIM:180860
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag...	OMIM:608978
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Hyperuricemia, Hepatocellular c...	OMIM:232240
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Thoracic kyphoscoliosis, Hepatomegaly, Lumbar hyperlordosis, Portal hypertension, Reduced forced ...	OMIM:613385
Diabetes Mellitus, Permanent Neonatal, 3	Ketonuria, Small for gestational age, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia	OMIM:618857
Dengue Fever	Hepatomegaly, Ascites, Hypoproteinemia, Lethargy	ORPHA:99828
Temple Syndrome	Recurrent hypoglycemia, Type II diabetes mellitus	ORPHA:254516
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa...	OMIM:308240
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Lipoatrophy, Papillary...	ORPHA:363618
Heme Oxygenase 1 Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614034
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Generalized amyotrophy, Elevated circulating C-reactive protein concentration	OMIM:619423
Cole Disease	Hyperglycemia, Abnormal blood phosphate concentration	OMIM:615522
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia	OMIM:268150
Cranioectodermal Dysplasia 2	Joint laxity, Hepatomegaly, Inguinal hernia, Renal insufficiency, Craniosynostosis, Splenomegaly,...	OMIM:613610
Dopamine Beta-Hydroxylase Deficiency	Fatigue, Hypoglycemia, Dyspnea, Insulin resistance, Hyperinsulinemia, Elevated circulating creati...	ORPHA:230
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia	OMIM:201910
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Hepatomegaly, Ataxia	OMIM:560000
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Pancreatic hyperplasia, Nephrolit...	OMIM:130650
Mandibuloacral Dysplasia With Type A Lipodystrophy	Cataract, Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Insulin ...	ORPHA:90153
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Joint laxity, Broad-based gait, Osteomyelitis, Cataract, Bicuspid aortic valve, Ventricular septa...	OMIM:619475
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Hypospadias, Double outlet right ventricle, Developmental cataract, Mi...	ORPHA:163956
Mevalonic Aciduria	Cataract, Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating C-reac...	OMIM:610377
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Cataract, Band keratopathy, Enamel hypomineralization, Bicarbonaturia, Bicarbo...	ORPHA:47159
Idiopathic/Heritable Pulmonary Arterial Hypertension	Fatigue, Hepatomegaly, Dyspnea, Chest pain, Pulmonary arterial hypertension	ORPHA:422
Pelizaeus-Merzbacher Disease	Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm...	OMIM:312080
Hurler-Scheie Syndrome	Hepatomegaly, Camptodactyly of finger, Thenar muscle atrophy, Splenomegaly, Kyphosis, Contracture...	OMIM:607015
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Recurrent hypoglycemia, Truncal ataxia, Gait ataxia	OMIM:616817
Triosephosphate Isomerase Deficiency	Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, ...	OMIM:615512
Rett Syndrome	Skeletal muscle atrophy, Apnea, Intermittent hyperventilation, Kyphosis, Gait apraxia, Gait ataxi...	OMIM:312750
Adams-Oliver Syndrome	Congenital hepatic fibrosis, Ascites, Cirrhosis, Portal hypertension	ORPHA:974
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Scoliosis	ORPHA:276630
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Failure to thrive, Ventricular septal defect, Shoulder flexion contracture, Dela...	OMIM:210710
Nephronophthisis 3	Hepatic fibrosis	OMIM:604387
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp...	OMIM:614381
Lymphoid Interstitial Pneumonia	Hepatomegaly, Weight loss, Keratoconjunctivitis sicca, Abnormality of connective tissue, Rheumato...	ORPHA:79128
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly	ORPHA:79292
Immunodeficiency 32B	Hepatomegaly, Sinusitis, Pneumonia, Splenomegaly, Bronchiectasis, Hypoalbuminemia	OMIM:226990
Zimmermann-Laband Syndrome 3	Kyphosis, Flexion contracture	OMIM:618658
Congenital Disorder Of Glycosylation, Type Ig	Lethargy, Hypoglycemia, Hypocalcemia	OMIM:607143
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Impaired glucose tolerance, Hypospadias, Maturity-onset diabetes of the young,...	OMIM:137920
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Cataract, Diaphyseal sclerosis, Hyperphosphatemia, Co...	ORPHA:94089
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Nephropathy, Cataract, Hypocalcemia	ORPHA:2238
Idiopathic Pulmonary Hemosiderosis	Fatigue, Hepatomegaly, Crackles, Cardiomegaly, Dyspnea, Hepatosplenomegaly, Restrictive ventilato...	ORPHA:99931
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, Ch...	OMIM:194380
Arima Syndrome	Hepatomegaly, Ataxia, Dyspnea, Tachypnea, Hepatic fibrosis, Cirrhosis, Hepatic steatosis	OMIM:243910
Papillorenal Syndrome	Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxati...	OMIM:120330
D-Glyceric Aciduria	Hypoglycemia, Nonketotic hyperglycinemia	OMIM:220120
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Encopresis, Inability to ...	OMIM:618443
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis	OMIM:224230
Shigellosis	Hyponatremia, Hypoglycemia, Peritonitis, Rhabdomyolysis, Abnormal blood ion concentration, Choles...	ORPHA:810
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Respiratory i...	OMIM:618291
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis	ORPHA:2031
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin...	OMIM:613095
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, Focal dystonia, A...	ORPHA:52368
Alg9-Cdg	Omphalocele, Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Lipodystrophy, U...	ORPHA:79328
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Impaired glucose tolerance, Kyphosis, Glucose intolerance, Hypokalemia, ...	OMIM:219090
Atrial Septal Defect, Ostium Primum Type	Fatigue, Exercise intolerance, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Airway...	ORPHA:99106
Nephronophthisis 11	Hepatic fibrosis	OMIM:613550
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis	OMIM:613989
Orthostatic Hypotension 1	Hypomagnesemia, Weakness of facial musculature, Neonatal hypoglycemia, Increased blood urea nitrogen	OMIM:223360
Acute Adrenal Insufficiency	Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyper...	ORPHA:95409
Wars2-Related Combined Oxidative Phosphorylation Defect	Poor head control, Ataxia, Dysmetria, Athetosis, Generalized amyotrophy, Difficulty walking, Musc...	ORPHA:572798
Autosomal Recessive Ataxia, Beauce Type	Impaired vibratory sensation, Skeletal muscle atrophy, Ataxia, Urinary incontinence, Kyphosis, Dy...	ORPHA:88644
Serotonin Syndrome	Rhabdomyolysis, Hepatic failure, Tachypnea	ORPHA:43116
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Hypospadias	OMIM:610644
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Spasticity	OMIM:616586
Holocarboxylase Synthetase Deficiency	Tachypnea, Hyperammonemia, Hyperventilation	OMIM:253270
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Facial palsy	OMIM:615085
Cranioectodermal Dysplasia 1	Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypocalcemia, Hepatic f...	OMIM:218330
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Small cervical vertebral bodies, Apnea, Tachypnea, Recurrent aspir...	ORPHA:397715
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Griscelli Syndrome	Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Hepatitis, Ascites, Abnormal circulating lipid conc...	ORPHA:381
Pelizaeus-Merzbacher Disease	Ataxia, Bowel incontinence, Kyphosis, Respiratory insufficiency, Choreoathetosis, Gait disturbanc...	ORPHA:702
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:615530
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Hypoglycemia, Prolonged neonatal jaundice	OMIM:233600
Crisponi Syndrome	Camptodactyly of finger, Sudden cardiac death, Kyphosis, Flexion contracture, Respiratory insuffi...	ORPHA:1545
Autism Spectrum Disorder Due To Auts2 Deficiency	Kyphosis, Congenital contracture, Joint contracture of the 5th finger, Scoliosis, Arthrogryposis ...	ORPHA:352490
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hepatic steatosis, Choreoathetosis, Neonatal hypoglycemia	ORPHA:445038
Migraine, Familial Hemiplegic, 2	Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Short neck, Kyphosis, Hepatosplenomegaly, Ascites	OMIM:608776
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Jaundice, Hyperkalemia, Hypoglycemia	ORPHA:90790
Gm1 Gangliosidosis	Ataxia, Camptodactyly of finger, Hyperlordosis, Kyphosis, Splenomegaly, Aplasia/Hypoplasia of the...	ORPHA:354
Trichohepatoenteric Syndrome 2	Hepatomegaly, Cirrhosis, Decreased serum iron, Chronic hepatitis	OMIM:614602
Mast Cell Sarcoma	Fatigue, Hepatomegaly, Splenomegaly	ORPHA:66661
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures	ORPHA:3454
Wieacker-Wolff Syndrome	Neonatal respiratory distress, Apnea, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenit...	OMIM:314580
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,...	ORPHA:90038
Baralle-Macken Syndrome	Inability to walk, Kyphosis, Urinary incontinence	OMIM:619255
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Limb joint contracture, Increased in...	ORPHA:93314
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc, Hepatomegaly	OMIM:601979
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Autosomal Dominant Progressive External Ophthalmoplegia	Cataract, Diabetes mellitus, Elevated circulating creatine kinase concentration, Ataxia, Dilated ...	ORPHA:254892
Kaposiform Lymphangiomatosis	Pericardial effusion, Fractures of the long bones, Splenomegaly, Osteolysis, Hepatosplenomegaly, ...	ORPHA:464329
Mirage Syndrome	Hyponatremia, Hypoplastic spleen, Hyperkalemia, Hypoglycemia	OMIM:617053
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, ...	OMIM:253010
Cold Agglutinin Disease	Back pain, Hepatomegaly, Fatigue, Splenomegaly, Arthralgia	ORPHA:56425
Mirizzi Syndrome	Dark urine, Hyperbilirubinemia	ORPHA:521219
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ...	ORPHA:85451
Tenorio Syndrome	Macroglossia, Hypoglycemia, Hypoinsulinemia, Gait disturbance	OMIM:616260
Smith-Kingsmore Syndrome	Hypoglycemia, Diastasis recti	OMIM:616638
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Inguinal hernia, Cataract, Ventricular septal defect, Multicystic kidney dyspl...	ORPHA:500095
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Inguinal hernia, Cataract, Hypospadias, Ataxia, Small for gestational age, Hyperammonemia, Umbili...	OMIM:614052
Rabson-Mendenhall Syndrome	Enlarged ovaries, Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insul...	ORPHA:769
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Ataxia, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Gait disturbance...	OMIM:230600
Argininemia	Hepatomegaly, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Portal fibrosis, Hyperarginine...	OMIM:207800
Griscelli Syndrome Type 2	Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice	ORPHA:79477
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Hypoventilation, Apnea, Facial palsy, Kyphosis, Stridor, Scoliosis, Arth...	OMIM:617143
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia	ORPHA:240094
Premature Aging Syndrome, Okamoto Type	Diabetes mellitus, Cataract, Osteoporosis	OMIM:601811
Alexander Disease	Diabetes mellitus, Ataxia, Facial palsy, Sudden cardiac death, Hyperlordosis, Short neck, Kyphosi...	ORPHA:58
Reynolds Syndrome	Calcinosis, Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Steatorrhea	OMIM:613471
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Osteoporosis, Increased body weight, Increased circulating cort...	OMIM:615954
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Elevated circulating C-reactive protein concentration, Spleno...	OMIM:612852
Glucocorticoid Deficiency 2	Recurrent hypoglycemia	OMIM:607398
Congenital Myopathy 22B, Severe Fetal	Waddling gait, Hepatomegaly, Thoracic scoliosis, Scapular winging, Hip contracture, Shoulder flex...	OMIM:620369
Hypothyroidism, Congenital, Nongoitrous, 2	Umbilical hernia, Increased circulating thyroglobulin level, Hyperbilirubinemia	OMIM:218700
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Ataxia, Jaundice, Hyperammonemia, Elevat...	ORPHA:79282
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Congenital diaphragmatic hernia...	OMIM:194080
Post-Traumatic Pituitary Deficiency	Hypoglycemia	ORPHA:95619
Meckel Syndrome 14	Hepatic fibrosis	OMIM:619879
Dahlberg-Borer-Newcomer Syndrome	Renal insufficiency, Cataract, Mitral valve prolapse, Hypocalcemia, Nephropathy	ORPHA:1563
Ck Syndrome	Kyphosis, Scoliosis, Hyperlordosis	OMIM:300831
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Abdominal pain, Pulmonary embolism, Arthralgia, Hypoalbuminemia, Ascites, Hypoprote...	OMIM:226300
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Flexion contracture, Choreoathetosis, Hepatic steatosis, Neonatal hypoglycemia	OMIM:616271
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Hyperlordosis, Hypoplasia of the odontoid process, Insulin-resistant diabetes melli...	OMIM:226980
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hy...	OMIM:183900
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Chronic fatigue, Hypercalcemia, Respir...	ORPHA:97282
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Nemaline bodies, Hypoglycemia, Elbow contracture	OMIM:620275
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal form of the ...	ORPHA:2635
Yellow Fever	Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Pancreatic hyper...	ORPHA:99829
Intellectual Developmental Disorder, Autosomal Dominant 26	Kyphosis, Arthrogryposis multiplex congenita, Scoliosis	OMIM:615834
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, S...	ORPHA:280365
Gaucher Disease Type 1	Hepatomegaly, Abdominal pain, Hypersplenism, Kyphosis, Splenomegaly, Bone pain, Cirrhosis, Pulmon...	ORPHA:77259
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, Cataract, Elevated circulating creatine kinase concentration	ORPHA:370997
Coronary Arterial Fistula	Orthopnea, Cardiomegaly, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea	ORPHA:2041
Spondyloepiphyseal Dysplasia Congenita	Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal...	ORPHA:94068
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Kyphosis, Apnea, Scoliosis	OMIM:619797
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Dyspnea, ...	OMIM:610505
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalcemia, Splenomegaly, Elbow flexion contracture, Macroglossia, Thoracic kyph...	OMIM:618440
Srd5A3-Cdg	Elevated hepatic transaminase, Kyphosis, Abnormal sacrum morphology, Ataxia	ORPHA:324737
Double Outlet Right Ventricle	Tachypnea, Hypocalcemia	ORPHA:3426
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Urinary incontinence, Facial palsy, Short neck, Kyphosis, Achilles tendon contra...	OMIM:301041
Lymphoproliferative Syndrome 1	Splenomegaly, Increased circulating ferritin concentration, Elevated circulating C-reactive prote...	OMIM:613011
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Diastasis recti, Short neck, Hypoplas...	OMIM:253220
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Macronodular cirrhosis, Hep...	OMIM:620005
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Splenomegaly, Abnormality of the spleen, Ophthalmoplegia, Limb ataxia, Hepatosp...	ORPHA:2072
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Decreased serum iron, Corneal erosion, Flexion contracture, Dilated cardiomyop...	ORPHA:89842
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Hypoglycemia, Ataxia, Unsteady gait, Contracture of the proximal...	ORPHA:457279
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Abnormal heart morphology, Abnormal glucose homeostasis,...	ORPHA:391673
Glucocorticoid Resistance, Generalized	Hypoglycemia	OMIM:615962
Addison Disease	Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyper...	ORPHA:85138
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Flexion contracture, Asthma, Recurrent pneumoni...	OMIM:309900
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Ante...	ORPHA:349
Steinert Myotonic Dystrophy	Diabetes mellitus, Inability to walk, Insulin resistance, Posterior subcapsular cataract, Dilated...	ORPHA:273
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia, Camptodactyly	OMIM:301032
Mcdonough Syndrome	Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis	ORPHA:2471
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Cardiomyopathy, Dilatation of the ventricular cavity, Cataract, Elevated circulating creatine kin...	ORPHA:363623
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Abnor...	OMIM:614298
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Hepatosplenomegaly, Increased serum iron, Elevated ...	ORPHA:300298
Perry Syndrome	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:168605
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Sandhoff Disease	Hepatomegaly, Skeletal muscle atrophy, Ataxia, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Mu...	OMIM:268800
19P13.12 Microdeletion Syndrome	Short neck, Kyphosis, Hyperlipidemia, Scoliosis, Arthrogryposis multiplex congenita, Hepatic stea...	ORPHA:254346
Shashi-Pena Syndrome	Hypoglycemia, Kyphosis, Scoliosis, Cervical C2/C3 vertebral fusion, Limb hypertonia	OMIM:617190
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperglycemia, Pancreatic hypoplasia, Pancr...	OMIM:609069
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Tachypnea	OMIM:245050
Cerebrotendinous Xanthomatosis	Cataract, Ataxia, Osteoporosis, Xanthelasma, Abnormal circulating cholesterol concentration, Diff...	OMIM:213700
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Gait disturbance, Diastasis recti, Neonatal hypoglycemia	ORPHA:457485
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis	OMIM:613239
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis	OMIM:615761
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Contracture of the proximal interphalangeal joint of the 3rd finger, Kyphosis, Contracture of the...	OMIM:130060
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Torticollis, Hypoglycemia, Inability to walk by childhood/adolescence, Choreoathetosis, Athetosis	OMIM:620224
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Chronic fatigue, Hypercalcemia, Intrah...	ORPHA:97283
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Ataxia, Splenomegaly, Decreased serum zinc, Lethargy	OMIM:201100
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology	ORPHA:1332
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Kyphosis, Macroglossia, Gait ataxia	OMIM:300354
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim...	OMIM:618056
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating C-reactive protein conc...	OMIM:615688
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased serum iron, Elevated hepatic iron concentration	OMIM:206100
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Reactive hypoglycemia	OMIM:600955
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypoglycemia, Macroglossia, Prolonged neonatal jaundice, Lethargy, Abnormal circulating thyroglob...	ORPHA:226307
Al Amyloidosis	Fatigue, Hepatomegaly, Increased circulating NT-proBNP concentration, Nonproductive cough, Dyspne...	ORPHA:85443
Multiple Endocrine Neoplasia, Type I	Insulinoma, Pancreatic islet cell adenoma, Hypercalcemia, Hypoglycemia	OMIM:131100
O'Sullivan-Mcleod Syndrome	Tremor, Fasciculations	ORPHA:99965
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Neonatal hypoglycemia	ORPHA:90791
Reynolds Syndrome	Fatigue, Hepatomegaly, Jaundice, Respiratory insufficiency, Myalgia, Cirrhosis, Ascites	ORPHA:779
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Kyphosis, Flexion contracture, Distal amyotrophy, Scoliosis	OMIM:609541
Hall-Riggs Syndrome	Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis	OMIM:234250
Schaaf-Yang Syndrome	Kyphosis, Inability to walk, Flexion contracture, Scoliosis, Camptodactyly, Arthrogryposis multip...	OMIM:615547
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia	ORPHA:397590
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Ataxia, Apnea, Dyspnea, Chorea, Ragged-red muscle fibers, Low plasma citrulline, Ep...	ORPHA:255210
Diastrophic Dysplasia	Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies, Respiratory insufficien...	ORPHA:628
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Scoliosis, Vertebral...	OMIM:602557
Immunodeficiency, Common Variable, 10	Hypoglycemia	OMIM:615577
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Scoliosis	ORPHA:1548
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Short-Rib Thoracic Dysplasia 12	Splenomegaly, Hepatomegaly, Periportal fibrosis, Ascites	OMIM:269860
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ...	ORPHA:99826
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Lethargy	OMIM:251110
Adult-Onset Autosomal Dominant Leukodystrophy	Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign...	ORPHA:99027
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Zimmermann-Laband Syndrome 2	Macroglossia, Kyphosis, Short neck	OMIM:616455
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Gait disturbance, Scoliosis	ORPHA:2181
Fabry Disease	Conjunctival telangiectasia, Abnormal endocardium morphology, Glomerulopathy, Cataract, Corneal o...	ORPHA:324
Pituitary Hormone Deficiency, Combined, 2	Neonatal hypoglycemia, Hypoglycemic seizures	OMIM:262600
Perlman Syndrome	Hypoglycemia, Congenital diaphragmatic hernia, Hypoplasia of the abdominal wall musculature, Panc...	OMIM:267000
Johanson-Blizzard Syndrome	Joint laxity, Hepatomegaly, Diabetes mellitus, Ventricular septal defect, Hypospadias, Increased ...	OMIM:243800
Bruck Syndrome 1	Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin...	OMIM:259450
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Increased circulating free fatty acid level	OMIM:610768
Cardiac-Urogenital Syndrome	Atrial septal defect, Cor triatrium sinister, Penoscrotal hypospadias, Ventricular septal defect,...	OMIM:618280
Orofaciodigital Syndrome I	Pancreatic cysts, Hepatic fibrosis, Hepatic cysts	OMIM:311200
Acute Liver Failure	Elevated hepatic transaminase, Hypoglycemia, Ataxia, Jaundice, Hepatitis, Hepatic necrosis, Hyper...	ORPHA:90062
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Cholelithiasis	OMIM:301066
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pne...	OMIM:620296
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Respiratory failure, Increased circulating very long-chain fatty acid concentration	OMIM:614862
Multiple Pterygium-Malignant Hyperthermia Syndrome	Congenital muscular torticollis, Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Dysp...	ORPHA:2215
Bruck Syndrome	Kyphosis, Respiratory insufficiency, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita	ORPHA:2771
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Hepatic fibrosis	OMIM:263520
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital diaphragmatic hernia...	ORPHA:2311
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Cataract, Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndrome, G...	OMIM:268315
Atypical Werner Syndrome	Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, Re...	ORPHA:79474
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Bone pain, Gait disturbance	ORPHA:85193
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Glucocorticoid Deficiency 1	Recurrent hypoglycemia	OMIM:202200
Gm1-Gangliosidosis, Type I	Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Hypoplastic vertebral bodies, Scoliosis, Beakin...	OMIM:230500
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Abdominal wall muscle weakness, Hypoglycemia, Myopathy, Muscle weakness	ORPHA:109
Pearson Syndrome	Hepatomegaly, Renal insufficiency, Cataract, Diabetes mellitus, Proteinuria, Ataxia, Small for ge...	ORPHA:699
Joubert Syndrome 2	Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:608091
Gaucher Disease, Type I	Hepatomegaly, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Bone pain, Pulmonary arterial hype...	OMIM:230800
Sjögren-Larsson Syndrome	Kyphosis, Scoliosis	ORPHA:816
Sheehan Syndrome	Hyponatremia, Hypoglycemia, Muscle weakness	ORPHA:91355
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Kyphosis, Abnormal mesentery morphology, Abnormality of the gall...	ORPHA:2075
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive gait ataxia, Head ...	OMIM:606002
Klatskin Tumor	Fatigue, Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Skeletal muscle atrophy, Limb joint contracture, Ataxia, Splenomegaly, Micronodular...	OMIM:301072
Familial Glucocorticoid Deficiency	Hyponatremia, Hyperkalemia, Ketotic hypoglycemia, Hypoglycemic seizures	ORPHA:361
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Intellectual Developmental Disorder, Autosomal Dominant 45	Neonatal hypoglycemia	OMIM:617600
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:2617
Jaberi-Elahi Syndrome	Broad-based gait, Kyphosis, Inability to walk, Dysmetria, Gait ataxia, Choreoathetosis, Scoliosis	OMIM:617988
Oculodentodigital Dysplasia	Hypoglycemia, Camptodactyly of finger, Ataxia, Gait disturbance, Muscle weakness	ORPHA:2710
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Apnea, Elevated circulating creatine kinase concentration, Short neck, W...	ORPHA:800
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Hyperinsulinemia, Biliary cirrhosis, Glucose intolerance, Cholesta...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Hyperinsulinemia, Biliary cirrhosis, Glucose intolerance, Cholesta...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Hyperinsulinemia, Biliary cirrhosis, Glucose intolerance, Cholesta...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Hyperinsulinemia, Biliary cirrhosis, Glucose intolerance, Cholesta...	ORPHA:881
Orofaciodigital Syndrome Type 6	Episodic tachypnea, Ataxia, Apnea, Gait disturbance	ORPHA:2754
Hypomelanosis Of Ito	Kyphosis, Scoliosis	OMIM:300337
Polycythemia Vera	Fatigue, Hepatomegaly, Epistaxis, Portal hypertension, Abdominal pain, Portal vein thrombosis, Sp...	ORPHA:729
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce...	OMIM:608594
Alg12-Cdg	Hyponatremia, Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholest...	ORPHA:79324
Helsmoortel-Van Der Aa Syndrome	Joint laxity, Recurrent urinary tract infections, Obesity, Mitral valve prolapse, Abnormal heart ...	OMIM:615873
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Arthralgia, Hump-shaped mou...	OMIM:313400
Pituitary Apoplexy	Hyponatremia, Hypoglycemia	ORPHA:95613
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ...	ORPHA:508533
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Increased circulating ...	ORPHA:158048
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Sinusitis, Splenomeg...	OMIM:617591
Sotos Syndrome	Glucose intolerance, Neonatal hypoglycemia, Prolonged neonatal jaundice	OMIM:117550
Holoprosencephaly	Hyponatremia, Diabetes mellitus, Hypoglycemia, Congenital diaphragmatic hernia, Abnormality of th...	ORPHA:2162
Williams Syndrome	Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc...	ORPHA:904
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvature of the vertebral column, ...	ORPHA:93360
Lysinuric Protein Intolerance	Hepatomegaly, Skeletal muscle atrophy, Hypolysinemia, Increased circulating ferritin concentratio...	OMIM:222700
Goodpasture Syndrome	Fatigue, Crackles, Cough, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Chest pain, ...	OMIM:233450
Niemann-Pick Disease, Type C2	Hepatomegaly, Neonatal respiratory distress, Ataxia, Fetal ascites, Splenomegaly, Jaundice, Respi...	OMIM:607625
Postencephalitic Parkinsonism	Camptocormia, Akinesia, Kyphosis, Abnormal respiratory system physiology, Paresthesia, Cough	ORPHA:97349
Desbuquois Dysplasia 1	Waddling gait, Neonatal respiratory distress, Hyperlordosis, Short neck, Kyphosis, Platyspondyly,...	OMIM:251450
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Myositis, Skeletal muscle atrophy, Splenomegaly, Flexion contracture	OMIM:619183
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Abdominal pain, Splenomegaly...	OMIM:249100
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
Immunodeficiency 31C	Fatigue, Hepatomegaly, Skeletal muscle atrophy, Diabetes mellitus, Splenomegaly, Bronchiectasis, ...	OMIM:614162
Joubert Syndrome 8	Hyperventilation, Hepatomegaly, Ataxia, Prolonged neonatal jaundice	OMIM:612291
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney	OMIM:612651
Frank-Ter Haar Syndrome	Kyphosis, Beaking of vertebral bodies, Camptodactyly of finger, Scoliosis	ORPHA:137834
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Respiratory insufficiency	ORPHA:2655
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Kyphosis, Platyspondyly, Hypocalcemia, Difficulty walking	OMIM:618476
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia, Respiratory ...	ORPHA:77293
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Unconjugated hyperbilirubinemia, Atrial septal defect, Patent foramen ovale, Iris coloboma, Right...	OMIM:620186
Mucopolysaccharidosis Type 6	Sinusitis, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Macroglossia	ORPHA:583
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Hypoventilation, Kyphosis, Inability to walk, Unsteady gait, Elbow flexion contr...	OMIM:618493
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Chronic fatigue, Hypercalcemia, Intrah...	ORPHA:97280
Transcobalamin Ii Deficiency	Hepatomegaly, Ataxia, Muscle weakness, Lethargy	OMIM:275350
Hemihyperplasia-Multiple Lipomatosis Syndrome	Multiple lipomas, Nephroblastoma, Lipoatrophy, Enlarged kidney	ORPHA:276280
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Fatigue, Scapular winging, Pain insensitivity, Kyphosis, Scoliosis	OMIM:617061
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Ataxia, Abnormality o...	ORPHA:99885
Smith-Mccort Dysplasia 1	Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability...	OMIM:607326
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney	OMIM:613091
Hurler Syndrome	Hepatomegaly, Short neck, Hypoplasia of the odontoid process, Kyphosis, Splenomegaly, Flexion con...	OMIM:607014
Omenn Syndrome	Splenomegaly, Hepatomegaly, Hypoproteinemia	OMIM:603554
Sarcoidosis	Fatigue, Hepatomegaly, Hypercalcemia, Portal hypertension, Facial palsy, Dyspnea, Pneumothorax, B...	ORPHA:797
Pierson Syndrome	Diffuse mesangial sclerosis, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Proteinuri...	OMIM:609049
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia, Vesicovaginal fistula, Atrial septal defect, Ureteropelvic junction ...	OMIM:300896
Atelis Syndrome 2	Sacral dimple, Dyspnea, Kyphosis, Hyperinsulinemia, Dysmetria	OMIM:620185
Pseudoachondroplasia	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,...	OMIM:177170
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Bone pain, Abn...	ORPHA:2062
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Hypertriglyceridemia, Sacral dimple, Diabetes mellitus, Kyphoscoliosis, Impai...	ORPHA:536532
Mosaic Trisomy 9	Camptodactyly of finger, Short neck, Asplenia, Hemivertebrae, Abnormal liver lobulation, Scoliosis	ORPHA:99776
Pituitary Stalk Interruption Syndrome	Hypoglycemia	ORPHA:95496
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
Silver-Russell Syndrome	Insulin resistance, Recurrent hypoglycemia, Decreased muscle mass	ORPHA:813
Becker Nevus Syndrome	Shoulder girdle muscle atrophy, Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Cockayne Syndrome	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Diabetes mellitus, Ataxia, ...	ORPHA:191
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Hyperuricemia	ORPHA:261222
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Joint contracture, Hypoglycemia	OMIM:618005
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Lumbar hyperlordosis, Urinary incontinence, Bowel incontinen...	OMIM:616482
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Hypoxemia, Restrictive ventilatory defect,...	ORPHA:15
Arthrogryposis, Distal, Type 4	Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,...	OMIM:609128
Thanatophoric Dysplasia Type 2	Kyphosis, Platyspondyly, Respiratory insufficiency	ORPHA:93274
Menkes Disease	Aplasia/Hypoplasia of the abdominal wall musculature, Hypoglycemia, Muscle weakness, Prolonged ne...	ORPHA:565
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Flexion contracture, Hypoglycemia	OMIM:616007
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Neonatal hypoglycemia	OMIM:608624
Glutaryl-Coa Dehydrogenase Deficiency	Athetosis, Ataxia, Fasting hypoglycemia	ORPHA:25
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
4Q21 Microdeletion Syndrome	Kyphosis, Scoliosis, Short neck	ORPHA:238750
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Hypoglycemia, Camptodactyly of finger, Congenital diaphragmatic hernia, Splenomegal...	ORPHA:373
Camurati-Engelmann Disease	Waddling gait, Hepatomegaly, Skeletal muscle atrophy, Ataxia, Facial palsy, Hyperlordosis, Kyphos...	ORPHA:1328
Pycnodysostosis	Hyperlordosis, Kyphosis, Chronic pain, Hepatosplenomegaly, Stridor, Spondylolysis, Scoliosis, Spo...	ORPHA:763
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Facial hypotonia, Kyphosis, Scoliosis, Abnormality of muscle size	ORPHA:364028
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Increased proinsulin:in...	OMIM:106210
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis	ORPHA:1883
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C...	ORPHA:564
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia	OMIM:146500
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck	ORPHA:2522
Rhizomelic Syndrome, Urbach Type	Kyphosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3098
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis	OMIM:615433
X-Linked Dominant Chondrodysplasia Punctata	Flexion contracture, Neonatal hypoglycemia	ORPHA:35173
Urban-Rogers-Meyer Syndrome	Kyphosis, Flexion contracture of toe, Camptodactyly of finger, Short neck	ORPHA:3409
Multiple Pterygium Syndrome, Escobar Variant	Neonatal respiratory distress, Multiple joint contractures, Thoracolumbar scoliosis, Congenital d...	OMIM:265000
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Congenital muscular torticollis, Kyphosis, Hemivertebrae, Abnormal form of the ...	ORPHA:2916
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating...	ORPHA:289548
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, Inability to walk, Recurrent pneumonia, Pulmonary arterial hypertension, Scoliosis, Dif...	ORPHA:464738
Emanuel Syndrome	Sacral dimple, Torticollis, Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Recurrent sinus...	OMIM:609029
15Q24 Microdeletion Syndrome	Kyphosis, Congenital diaphragmatic hernia, Scoliosis	ORPHA:94065
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoventilation, Ataxia, Micr...	OMIM:203700
Spondyloenchondrodysplasia	Pneumonia, Kyphosis, Chorea, Hepatitis, Platyspondyly, Myalgia, Lower limb pain	ORPHA:1855
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Hypercalcemia, Kyphosis, Gait ataxia, Scoliosis	ORPHA:476126
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait disturbance, Scol...	ORPHA:582
Stickler Syndrome, Type I	Kyphosis, Platyspondyly, Arthralgia, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, ...	OMIM:108300
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Inguinal hernia, Ventricular septal defect, Hypospadias, Congenital diaphragmatic h...	OMIM:312870
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Kyphosis, Gait ataxia, Difficulty walking...	ORPHA:457359
Pmm2-Cdg	Elevated hepatic transaminase, Multiple joint contractures, Ataxia, Reduced thyroxin-binding glob...	ORPHA:79318
Clark-Baraitser syndrome	Kyphosis, Scoliosis	OMIM:300602
Leptospirosis	Respiratory distress, Hepatomegaly, Abdominal pain, Jaundice, Rhabdomyolysis, Hepatitis, Hyperpro...	ORPHA:509
Ruvalcaba Syndrome	Kyphosis, Scoliosis	OMIM:180870
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia, Hypoglycemia	ORPHA:786
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Macroglossia, Hypoglycemia	OMIM:614501
Mucolipidosis Type Ii	Hip contracture, Respiratory failure requiring assisted ventilation, Diastasis recti, Splenomegal...	ORPHA:576
Marden-Walker Syndrome	Decreased muscle mass, Short neck, Kyphosis, Congenital contracture, Scoliosis, Camptodactyly, Jo...	OMIM:248700
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Respiratory insufficiency, Limb hypertonia	OMIM:619909
Prader-Willi Syndrome	Hypoventilation, Decreased muscle mass, Impaired pain sensation, Kyphosis, Hyperinsulinemia, Type...	OMIM:176270
Dyggve-Melchior-Clausen Disease	Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl...	OMIM:223800
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, C...	OMIM:234200
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Neonatal respiratory distress, Impaired pain sensation, Kyphosis, Scoliosis	OMIM:619005
Joubert Syndrome 5	Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:610188
Aortic Arch Interruption	Respiratory distress, Tachypnea, Left ventricular hypertrophy, Postexertional symptom exacerbatio...	ORPHA:2299
Cystic Fibrosis	Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Asth...	OMIM:219700
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis, Skeletal muscle atrophy, Knee flexion contracture	OMIM:603387
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect,...	OMIM:600001
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Kyphosis, Scoliosis	ORPHA:79107
Pelger-Huet Anomaly	Kyphosis, Lower limb hypertonia, Foot dorsiflexor weakness	OMIM:169400
Trisomy 20P	Camptodactyly of finger, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral s...	ORPHA:261318
Kikuchi-Fujimoto Disease	Fatigue, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Elevated circulating C-reactive pro...	ORPHA:50918
Poland Syndrome	Diabetes mellitus, Congenital diaphragmatic hernia, Short neck, Kyphosis, Aplasia of the pectoral...	ORPHA:2911
Alström Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Portal hypertension, S...	ORPHA:64
3M Syndrome	Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis	ORPHA:2616
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Asthma, Flexion contracture, Gait disturbance, Scoliosis	ORPHA:500055
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Urinary incontinence, Kyphosis, Hypopnea, Restrictive ventilatory defect,...	OMIM:619482
Multisystemic Smooth Muscle Dysfunction Syndrome	Pulmonary arterial hypertension, Tachypnea	OMIM:613834
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Pulmonary arterial hypertension, Scoliosis	OMIM:259420
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Recurrent hypoglycemia, Hyperkalemia	ORPHA:293978
Deeah Syndrome	Hepatomegaly, Neonatal hypoglycemia, Exocrine pancreatic insufficiency	OMIM:619004
Rett Syndrome, Congenital Variant	Kyphosis, Chorea, Athetosis, Scoliosis, Aspiration	OMIM:613454
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal lymphocytic tubulitis, Cataract, Elevated circulating C-reactive protein concentration, Ant...	ORPHA:91500
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Magel2-Related Prader-Willi-Like Syndrome	Impaired temperature sensation, Kyphosis, Flexion contracture, Type II diabetes mellitus, Scoliosis	ORPHA:398069
Fountain Syndrome	Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3219
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Kyphosis, Abnormal form of the vertebral bodies, Gait disturbance, Scoli...	ORPHA:192
Kabuki Syndrome 2	Neonatal hypoglycemia	OMIM:300867
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Ataxia, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Gait ...	OMIM:300966
Foxg1 Syndrome Due To 14Q12 Microdeletion	Macroglossia, Kyphosis, Scoliosis	ORPHA:261144
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Kyphosis, Short neck	ORPHA:3082
Autosomal Recessive Spastic Paraplegia Type 35	Urinary incontinence, Bowel incontinence, Kyphosis, Dysmetria, Lower limb hypertonia, Dysdiadocho...	ORPHA:171629
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Respiratory insufficiency	ORPHA:1860
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Camptodactyly of finger, Short neck, Kyphosis, Scoliosis	ORPHA:85293
Eisenmenger Syndrome	Fatigue, Exercise intolerance, Hepatomegaly, Respiratory distress, Elevated circulating C-reactiv...	ORPHA:97214
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Spina bifida occulta, Short neck	ORPHA:2983
Trisomy 13	Kyphosis, Scoliosis	ORPHA:3378
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ...	ORPHA:391665
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis	ORPHA:3121
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae	ORPHA:958
Dysostosis, Stanescu Type	Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis	ORPHA:1798
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Decreased muscle mass, Fasting hypoglycemia	ORPHA:96182
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Kyphosis, Interstitial emphysema, Bronchiectasis, Dysmetria, Knee flexion contracture	OMIM:619708
3C Syndrome	Kyphosis, Hemivertebrae, Scoliosis, Short neck	ORPHA:7
Wolf-Hirschhorn Syndrome	Sacral dimple, Ataxia, Congenital diaphragmatic hernia, Kyphosis, Abnormality of the gallbladder,...	ORPHA:280
Congenital Heart Defects And Skeletal Malformations Syndrome	Repeated pneumothoraces, Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Camptodactyly	OMIM:617602
2P15P16.1 Microdeletion Syndrome	Camptodactyly of finger, Facial palsy, Kyphosis, Gait disturbance, Scoliosis	ORPHA:261349
Classic Homocystinuria	Elevated hepatic transaminase, Hepatomegaly, Pulmonary embolism, Kyphosis, Scoliosis	ORPHA:394
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Short neck, Kyphosis, Scoliosis, Biconcave vertebral bodies	OMIM:130720
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Kyphosis, Scoliosis	ORPHA:404440
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Kyphosis, Splenomegaly, Fle...	ORPHA:90324
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Short neck, Kyphosis, Respiratory insufficiency, Scoliosis, T...	ORPHA:140
Cardiofacioneurodevelopmental Syndrome	Asplenia, Kyphosis, Abdominal situs inversus, Camptodactyly	OMIM:619123
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, Recurrent pneumonia, Pulmonary arterial hypertension, Scoliosis	OMIM:616449
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Tip-toe gait, Scol...	OMIM:618050
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Apnea, Kyphosis, Respiratory insufficiency, Contractures of the large joints, Hypomimic face	OMIM:617527
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Retrocollis, Limb d...	OMIM:601104
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis	ORPHA:2789
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis, Pancreatitis	OMIM:610475
Plaa-Associated Neurodevelopmental Disorder	Apnea, Kyphosis, Respiratory insufficiency, Contractures of the large joints, Limb hypertonia	ORPHA:521426
Marshall-Smith Syndrome	Thoracic scoliosis, Apnea, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Stridor,...	OMIM:602535
Alkaptonuria	Vertebral fusion, Low back pain, Diminished physical functioning, Kyphosis, Arthralgia, Thickened...	OMIM:203500
Marfanoid Habitus With Situs Inversus	Kyphosis, Scoliosis	OMIM:609008
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Waddling gait, Lumbar hyperlordosis, Camptodactyly of finger, Kyphoscoliosis, Short neck, Kyphosi...	OMIM:143095
Double Outlet Left Ventricle	Tachypnea, Cardiomegaly	ORPHA:3427
Orofaciodigital Syndrome Type 2	Tachypnea, Apnea	ORPHA:2751
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Kyphosis, Camptodactyly of finger, Scoliosis	OMIM:619951
Koolen-De Vries Syndrome	Vertebral fusion, Vertebral segmentation defect, Kyphosis, Scoliosis	ORPHA:96169
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Kyphosis, Hypotrophy of the small hand muscles, Scoliosis, Spond...	OMIM:610443
Tropical Endomyocardial Fibrosis	Fatigue, Hepatomegaly, Orthopnea, Cardiomegaly, Splenomegaly, Dyspnea, Myocardial calcification, ...	ORPHA:75565
Acromegaly	Fatigue, Diabetes mellitus, Kyphosis, Spinal canal stenosis, Macroglossia, Arthralgia, Paresthesia	ORPHA:963
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Somatomammotropinoma	Fatigue, Diabetes mellitus, Kyphosis, Spinal canal stenosis, Macroglossia, Arthralgia, Paresthesia	ORPHA:314769
Osteogenesis Imperfecta	Somatic sensory dysfunction, Neonatal respiratory distress, Ataxia, Cervical kyphosis, Trigeminal...	ORPHA:666
Hajdu-Cheney Syndrome	Hepatomegaly, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Splenomegaly, Bone pain, Ar...	ORPHA:955
Distal Triplication 15Q	Kyphosis, Flexion contracture, Scoliosis, Camptodactyly	ORPHA:314588
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis, Skeletal muscle atrophy	OMIM:219080
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:1005
3-Methylglutaconic Aciduria, Type Viii	Jaundice, Neonatal hypoglycemia	OMIM:617248
Cockayne Syndrome A	Hip contracture, Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Gait disturbance	OMIM:216400
Microphthalmia, Lenz Type	Kyphosis, Camptodactyly of finger, Scoliosis, Hyperlordosis	ORPHA:568
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Kyphosis, Hemivertebrae, Macroglossia, Scoliosis	OMIM:301040
Holt-Oram Syndrome	Kyphosis, Scoliosis	ORPHA:392
Noonan Syndrome 14	Kyphosis, Scapular winging, Short neck	OMIM:619745
Harrod Syndrome	Kyphosis, Scoliosis	ORPHA:2115
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly	OMIM:616294
Chromosome Xq26.3 Duplication Syndrome	Kyphosis, Arthralgia, Body odor	OMIM:300942
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hypoglycemia, Hyperkalemia, Camptodactyly, Joint contracture of the hand, Decreased...	OMIM:201750
Primrose Syndrome	Hip contracture, Skeletal muscle atrophy, Diabetes mellitus, Ataxia, Elevated circulating alpha-f...	OMIM:259050
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly	OMIM:271700
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Hyperuricemia, Abnormal form of the vertebral bodies	ORPHA:2769
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Short neck, Kyphosis, Abnormality of the gallbladder, Abnormal f...	ORPHA:818
Truncus Arteriosus	Tachypnea, Right ventricular hypertrophy, Cardiomegaly	ORPHA:3384
Weaver Syndrome	Diastasis recti, Kyphosis, Scoliosis, Camptodactyly, Joint contracture of the hand	OMIM:277590
Cole-Carpenter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2050
Costello Syndrome	Macroglossia, Achilles tendon contracture, Hypoglycemia, Rhabdomyosarcoma	OMIM:218040
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Irregular ...	ORPHA:3042
X-Linked Intellectual Disability, Snyder Type	Decreased muscle mass, Kyphoscoliosis, Kyphosis, Inability to walk, Unsteady gait, Camptodactyly	ORPHA:3063
Aspartylglucosaminuria	Hepatomegaly, Kyphosis, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebr...	OMIM:208400
Micro Syndrome	Kyphosis, Scoliosis	ORPHA:2510
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ataxia, Kyphoscoliosis, Cardiomegaly, Kyphosis, Left ventricular noncompaction, Scoliosis, Right ...	OMIM:300967
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
2Q31.1 Microdeletion Syndrome	Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:251014
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Kyphosis, Gait disturbance, Scoliosis, Flexion contracture of finger, ...	ORPHA:464311
Mgat2-Cdg	Respiratory distress, Kyphosis, Scoliosis	ORPHA:79329
1P36 Deletion Syndrome	Camptodactyly of finger, Kyphosis, Abnormality of the spleen, Spinal canal stenosis, Myopathy, Ab...	ORPHA:1606
16Q24.3 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261250
Cowden Syndrome 5	Kyphosis, Scoliosis	OMIM:615108
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, Scapular winging	OMIM:616914
Cockayne Syndrome B	Splenomegaly, Kyphosis, Ataxia, Hepatomegaly	OMIM:133540
Marfan Syndrome	Skeletal muscle atrophy, Arthralgia/arthritis, Chronic fatigue, Spontaneous pneumothorax, Kyphosi...	ORPHA:558
Cowden Syndrome 6	Kyphosis, Scoliosis	OMIM:615109
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Neonatal hypoglycemia, Hypochloremia	ORPHA:90794
Mend Syndrome	Sacral dimple, Kyphosis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Limb hypertonia	ORPHA:401973
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Kyphosis, Gait disturbance, Scoliosis, Abnormality of the cervical s...	ORPHA:464306
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th...	OMIM:618223
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Gait ataxia, Kyphosis, Scoliosis, Hyperlordosis	OMIM:617011
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Marden-Walker Syndrome	Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies...	ORPHA:2461
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Short neck, Kyphosis, Scoliosis, Camptodactyly	OMIM:616894
Occipital Horn Syndrome	Kyphosis, Platyspondyly, Decreased circulating ceruloplasmin concentration, Decreased circulating...	OMIM:304150
Cowden Syndrome 1	Kyphosis, Scoliosis	OMIM:158350
Cono-Spondylar Dysplasia	Kyphosis, Scoliosis, Short neck	ORPHA:420794
Cohen Syndrome	Kyphosis, Scoliosis	ORPHA:193
Multiple Endocrine Neoplasia, Type Iib	Kyphosis, Myopathy, Scoliosis, Hyperlordosis	OMIM:162300
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Bilateral camptodactyly, Scoliosis	OMIM:619557
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Congenital hepatic fibrosis	ORPHA:93271
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Macro...	OMIM:619194
Osteogenesis Imperfecta, Type Iv	Kyphosis, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Frank-Ter Haar Syndrome	Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Prominent coccyx, Camptodactyly	OMIM:249420
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress, Kyphosis, Spondylolysis, Scoliosis, Spondylo...	OMIM:119600
Occipital Horn Syndrome	Kyphosis, Jaundice, Hepatitis, Cholestasis, Platyspondyly, Scoliosis	ORPHA:198
Monosomy 9Q22.3	Kyphosis, Abnormality of the vertebral column, Rhabdomyosarcoma, Short neck	ORPHA:77301
Zttk Syndrome	Absent gallbladder, Kyphosis, Flexion contracture, Hemivertebrae, Scoliosis	OMIM:617140
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Sacral dimple, Hyperlordosis, Kyphosis, Scoliosis, Tracheomalacia, Spondylol...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Sacral dimple, Hyperlordosis, Kyphosis, Scoliosis, Tracheomalacia, Spondylol...	ORPHA:363958
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Scoliosis, Skeletal muscle atrophy	ORPHA:1969
Autosomal Recessive Robinow Syndrome	Sacral dimple, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scol...	ORPHA:1507
Sotos Syndrome	Sacrococcygeal teratoma, Hip contracture, Hypercalcemia, Ankle flexion contracture, Kyphosis, Bil...	ORPHA:821
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
Cowden Syndrome	Ataxia, Enlarged polycystic ovaries, Kyphosis, Macroglossia, Scoliosis	ORPHA:201
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati...	ORPHA:1724
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Broad-based gait, Ataxia, Kyphosis, Gait disturbance, Scoliosis	ORPHA:268261
Non-Acquired Panhypopituitarism	Hypoglycemia	ORPHA:90695
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Sacral dimple, Decreased muscle mass, Kyphosis, Biliary tract...	OMIM:194190
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres...	OMIM:259770
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Contracture of ...	ORPHA:2232
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis	OMIM:610489
Holoprosencephaly 1	Hypoglycemia	OMIM:236100
Stickler Syndrome	Skeletal muscle atrophy, Kyphosis, Bone pain, Spinal canal stenosis, Abnormal form of the vertebr...	ORPHA:828
Shprintzen Omphalocele Syndrome	Kyphosis, Neonatal respiratory distress, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Cdags Syndrome	Kyphosis	OMIM:603116
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypoglycemia	ORPHA:95494
Lymphedema-Distichiasis Syndrome	Kyphosis, Chylothorax	OMIM:153400
Proteus Syndrome	Decreased muscle mass, Sudden cardiac death, Pulmonary embolism, Enlarged polycystic ovaries, Kyp...	ORPHA:744
Cerebrocostomandibular Syndrome	Tracheomalacia, Kyphosis, Neonatal respiratory distress	ORPHA:1393
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Lenz-Majewski Hyperostotic Dwarfism	Kyphosis, Facial palsy, Scoliosis	ORPHA:2658
Coffin-Siris Syndrome 1	Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Gait ataxia, Scoliosis, Spina bifida oc...	OMIM:135900
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Scoliosis	OMIM:619718
Neurofibromatosis Type 1	Kyphosis, Ataxia, Paresthesia, Scoliosis	ORPHA:636
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis	ORPHA:85199
17Q11 Microdeletion Syndrome	Rhabdomyosarcoma, Kyphosis, Pulmonary arterial hypertension, Abnormality of the vertebral column,...	ORPHA:97685
Mend Syndrome	Kyphosis, Sacral dimple	OMIM:300960
Viss Syndrome	Kyphosis, Asthma, Pneumothorax, Dyspnea, Macroglossia, Scoliosis, Pulmonary arterial hypertension...	OMIM:619472
Spondyloepimetaphyseal Dysplasia, X-Linked	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi...	OMIM:300106
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Camptodactyly of finger, Kyphosis, Platyspondyly, Abnormality of the vertebral column, Abnormal v...	ORPHA:2273
Wrinkly Skin Syndrome	Kyphosis, Scapular winging, Hypoplasia of the musculature, Scoliosis	OMIM:278250
Coffin-Lowry Syndrome	Kyphosis, Scoliosis, Lumbar kyphosis	OMIM:303600
Ramon Syndrome	Kyphosis, Scoliosis	OMIM:266270
Branchiooculofacial Syndrome	Facial palsy, Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture, Duplication of inte...	OMIM:113620
Yunis-Varon Syndrome	Kyphosis, Anterior concavity of thoracic vertebrae, Aspiration pneumonia, Pulmonary arterial hype...	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

Adult LacZ

X-ray

Auditory Brain Stem Response

Human diseases caused by Agl mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data