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Gene: Sgms1 MGI:2444110

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Gene Summary

Name:

sphingomyelin synthase 1

Synonyms:

SMS1gamma, SMS1, Tmem23, SMS1alpha2, SMS1alpha1, 9530058O11Rik, SMS1beta

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	System	Allele	Zyg	Sex	Life Stage	P Value
increased circulating alkaline phosphatase level		Sgms1^{tm1a(EUCOMM)Wtsi}	HOM		Early adult	9.53×10^-11
tremors		Sgms1^{tm1a(EUCOMM)Wtsi}	HOM		Early adult	1.64×10^-06
increased lean body mass		Sgms1^{tm1a(EUCOMM)Wtsi}	HOM		Early adult	8.59×10^-05
male infertility		Sgms1^{tm1a(EUCOMM)Wtsi}	HOM		Early adult	0.00
increased circulating creatinine level		Sgms1^{tm1a(EUCOMM)Wtsi}	HOM		Early adult	1.21×10^-21
thrombocytopenia		Sgms1^{tm1a(EUCOMM)Wtsi}	HOM		Early adult	6.56×10^-07
increased circulating magnesium level		Sgms1^{tm1a(EUCOMM)Wtsi}	HOM		Early adult	1.09×10^-06
decreased total body fat amount		Sgms1^{tm1a(EUCOMM)Wtsi}	HOM		Early adult	1.55×10^-05
decreased mean corpuscular hemoglobin		Sgms1^{tm1a(EUCOMM)Wtsi}	HOM		Early adult	6.12×10^-05
increased grip strength		Sgms1^{tm1a(EUCOMM)Wtsi}	HOM		Early adult	9.11×10^-10
increased mean platelet volume		Sgms1^{tm1a(EUCOMM)Wtsi}	HOM		Early adult	9.61×10^-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Legacy Phenotype Associated Images

Sgms1^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

Sgms1^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

Sgms1^{tm1a(EUCOMM)Wtsi}
HOM, Female, WTSI

Sgms1^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

Sgms1^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

View all 111 images

Sgms1^{tm1a(EUCOMM)Wtsi}
lateral ventricle, small lateral ventricles, HOM, Male, WTSI

Sgms1^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

Sgms1^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

Sgms1^{tm1a(EUCOMM)Wtsi}
WT, Male, WTSI

Sgms1^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

View all 15 images

Sgms1^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

Human diseases caused by Sgms1 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 Sgms1 (0 diseases)
Human diseases predicted to be associated with Sgms1 (959 diseases)

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

The table below shows human diseases predicted to be associated to Sgms1 by phenotypic similarity.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Maturity-Onset Diabetes Of The Young, Type 10		Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus	OMIM:613370
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy		Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce...	ORPHA:293964
Maturity-Onset Diabetes Of The Young, Type 3		Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus	OMIM:600496
Transient Neonatal Diabetes Mellitus		Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse...	ORPHA:99886
Diabetes Mellitus, Transient Neonatal, 1		Hyperglycemia, Severe failure to thrive, Transient neonatal diabetes mellitus	OMIM:601410
Hyperinsulinemic Hypoglycemia, Familial, 2		Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati...	OMIM:601820
Episodic Ataxia, Type 1		Babinski sign, Elevated circulating creatine kinase concentration, Spastic gait, Tremor, Slurred ...	OMIM:160120
Lipodystrophy, Familial Partial, Type 1		Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insu...	OMIM:608600
Spermatogenic Failure 46		Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S...	OMIM:619095
Partial Chromosome Y Deletion		Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi...	ORPHA:1646
Hyperproinsulinemia		Hyperglycemia, Hyperinsulinemia	OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 7		Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz...	OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 1		Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo...	OMIM:256450
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies		Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism	OMIM:307500
Spermatogenic Failure 35		Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella	OMIM:618341
Spermatogenic Failure 33		Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella	OMIM:618152
Spermatogenic Failure 34		Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella	OMIM:618153
Spermatogenic Failure 18		Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella	OMIM:617576
Spermatogenic Failure 20		Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella	OMIM:617593
Spermatogenic Failure 19		Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella	OMIM:617592
Spermatogenic Failure 43		Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in...	OMIM:618751
Spermatogenic Failure 49		Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45		Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe...	OMIM:619094
Bleeding Disorder, Platelet-Type, 24		Menorrhagia, Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, I...	OMIM:619271
Spermatogenic Failure 54		Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled...	OMIM:619379
Spermatogenic Failure 56		Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ...	OMIM:619515
Spermatogenic Failure 57		Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a...	OMIM:619528
Spermatogenic Failure, X-Linked, 3		Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ...	OMIM:301059
Glycogen Storage Disease 0, Liver		Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia	OMIM:240600
Spermatogenic Failure 42		Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ...	OMIM:618745
Spermatogenic Failure 39		Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility...	OMIM:618643
Spermatogenic Failure 40		Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse...	OMIM:618664
Spermatogenic Failure 50		Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia	OMIM:619145
Isochromosomy Yp		Ambiguous genitalia, Male infertility, Decreased testicular size, Azoospermia	ORPHA:98797
Hemoglobin E-Beta-Thalassemia Syndrome		Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin	ORPHA:231249
Spermatogenic Failure 5		Functional abnormality of male internal genitalia, Male infertility	OMIM:243060
Spermatogenic Failure 11		Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility	OMIM:615081
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm		Abnormal sperm morphology, Infertility	OMIM:608653
Spermatogenic Failure 58		Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ...	OMIM:619585
Bleeding Disorder, Platelet-Type, 16		Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired...	OMIM:187800
Spermatogenic Failure 36		Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 51		Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla...	OMIM:619177
Spermatogenic Failure 47		Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella	OMIM:619102
Hemoglobin D Disease		Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia...	ORPHA:90039
Spermatogenic Failure 10		Abnormal sperm morphology, Infertility	OMIM:614822
Male Infertility Due To Acephalic Spermatozoa		Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,...	ORPHA:529970
Deafness-Infertility Syndrome		Abnormal spermatogenesis, Male infertility, Reduced sperm motility	OMIM:611102
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency		Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir...	ORPHA:171706
Spermatogenic Failure 62		Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61		Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619672
Hyperinsulinemic Hypoglycemia, Familial, 3		Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus	OMIM:602485
Spermatogenic Failure 41		Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella	OMIM:618670
Spermatogenic Failure 59		Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619645
Spermatogenic Failure 60		Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619646
Isochromosomy Yq		Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia...	ORPHA:98798
Male Infertility With Teratozoospermia Due To Single Gene Mutation		Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev...	ORPHA:399808
Spermatogenic Failure 48		Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Bleeding Disorder, Platelet-Type, 15		Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis	OMIM:615193
Mody		Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg...	ORPHA:552
Platelet Glycoprotein Iv Deficiency		Thrombocytopenia, Giant platelets	OMIM:608404
Spermatogenic Failure 44		Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Macrothrombocytopenia and progressive sensorineural deafness		Thrombocytopenia, Macrothrombocytopenia, Giant platelets	OMIM:600208
Spermatogenic Failure 7		Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility	OMIM:612997
Spermatogenic Failure 1		Oligospermia, Male infertility, Cryptozoospermia	OMIM:258150
Insulinomatosis And Diabetes Mellitus		Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai...	OMIM:147630
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities		Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu...	OMIM:262190
Hyperinsulinemic Hypoglycemia, Familial, 5		Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures	OMIM:609968
Spermatogenic Failure 31		Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53		Tapered sperm head, Male infertility	OMIM:619258
Lipodystrophy, Familial Partial, Type 3		Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes melli...	OMIM:604367
Spermatogenic Failure 24		Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep...	OMIM:617959
Wolfram-Like Syndrome, Autosomal Dominant		Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus	OMIM:614296
Spermatogenic Failure 21		Infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16		Infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Diabetes Mellitus, Permanent Neonatal, 4		Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus, Small for gestational age	OMIM:618858
Persistent Mullerian Duct Syndrome, Types I And Ii		Abnormality of male internal genitalia, Male infertility, Bilateral cryptorchidism	OMIM:261550
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss		Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Giant platelets, Thrombocyt...	OMIM:155100
Diabetes Mellitus, Permanent Neonatal, 2		Hyperglycemia, Type I diabetes mellitus, Flexion contracture	OMIM:618856
Spermatogenic Failure 26		Infertility, Acephalic spermatozoa	OMIM:617961
Sebastian syndrome		Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies	OMIM:605249
Giant platelet syndrome with thrombocytopenia		Thrombocytopenia, Giant platelets	OMIM:137560
Hyperinsulinemic Hypoglycemia, Familial, 4		Hyperinsulinemic hypoglycemia, Hypoglycemic seizures	OMIM:609975
Spermatogenic Failure 52		Male infertility, Azoospermia	OMIM:619202
Diabetes Mellitus, Permanent Neonatal, 1		Hyperglycemia, Small for gestational age, Diabetes mellitus, Type I diabetes mellitus	OMIM:606176
Platelet-Activating Factor Acetylhydrolase Deficiency		Increased level of platelet-activating factor	OMIM:614278
Spermatogenic Failure 6		Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Deafness-Infertility Syndrome		Male infertility, Azoospermia	ORPHA:94064
Hyperinsulinism Due To Insr Deficiency		Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ...	ORPHA:263458
Insulin Autoimmune Syndrome		Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h...	ORPHA:411593
Spermatogenic Failure 38		Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility...	OMIM:618433
Myh9-Related Disease		Neutrophil inclusion bodies, Increased mean platelet volume, Menorrhagia, Giant platelets, Congen...	ORPHA:182050
Ring Chromosome Y Syndrome		Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni...	ORPHA:261529
Hyperinsulinism Due To Glucokinase Deficiency		Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp...	ORPHA:79299
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related		Macrothrombocytopenia	OMIM:613112
Obesity Due To Prohormone Convertase I Deficiency		Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency		Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to...	ORPHA:71526
Bernard-Soulier Syndrome		Thrombocytopenia, Menorrhagia, Giant platelets, Impaired ristocetin-induced platelet aggregation	OMIM:231200
Fechtner syndrome		Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Giant platelets, Thrombocyt...	OMIM:153640
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive		Hyperglycemia	OMIM:618970
Slc35A1-Cdg		Neutropenia, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Cellulitis	ORPHA:238459
Acth-Independent Macronodular Adrenal Hyperplasia 2		Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ...	OMIM:615954
Thrombocytopenic Purpura, Autoimmune		Thrombocytopenia	OMIM:188030
Familial Partial Lipodystrophy, Köbberling Type		Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Lipoatroph...	ORPHA:79084
Diabetes Mellitus, Permanent Neonatal, 3		Hyperglycemia, Small for gestational age, Type I diabetes mellitus, Glycosuria	OMIM:618857
Morbid Obesity And Spermatogenic Failure		Oligospermia, Decreased HDL cholesterol concentration, Infertility, Azoospermia, Increased LDL ch...	OMIM:615703
Thrombocytopenia 2		Leukocytosis, Thrombocytopenia	OMIM:188000
Hyperinsulinism Due To Hnf1A Deficiency		Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi...	ORPHA:324575
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss		Tremor, Mildly elevated creatine kinase	OMIM:614369
Thrombocytopenia 4		Thrombocytopenia	OMIM:612004
Spermatogenic Failure 12		Infertility, Abnormal male germ cell morphology, Azoospermia	OMIM:615413
Type 1 Diabetes Mellitus		Hyperglycemia, Diabetes mellitus	OMIM:222100
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome		Hyponatremia, Leukopenia, Failure to thrive, Anemia, Hyperuricemia, Hypomagnesemia, Thrombocytopenia	OMIM:613845
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome		Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia	ORPHA:231393
Hypocalciuric Hypercalcemia, Familial, Type Ii		Hypermagnesemia, Hypercalcemia, Chondrocalcinosis, Multiple lipomas	OMIM:145981
Sitosterolemia 1		Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom...	OMIM:210250
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation		Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato...	ORPHA:399805
Spermatogenic Failure, Y-Linked, 1		Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55		Male infertility, Reduced sperm motility	OMIM:619380
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland		Hypocalcemic seizures, Hypomagnesemia, Male infertility, Hypocalcemia, Hyperphosphatemia	ORPHA:2239
Donohue Syndrome		Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Adipose tissue loss, Pancreatic islet-cell...	OMIM:246200
Obesity Due To Melanocortin 4 Receptor Deficiency		Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Obesity, Childhood-onset t...	ORPHA:71529
Refractory Celiac Disease		Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Weight loss, Hypop...	ORPHA:398063
Optic Atrophy 2		Tremor, Babinski sign, Dysdiadochokinesis	OMIM:311050
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia		Thrombocytopenia	OMIM:124900
Diabetes And Deafness, Maternally Inherited		Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Plin1-Related Familial Partial Lipodystrophy		Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit...	ORPHA:280356
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency		Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi...	ORPHA:276580
Bleeding Disorder, Platelet-Type, 9		Thrombocytopenia	OMIM:614200
Pelger-Huet Anomaly		Neutropenia, Umbilical hernia, Failure to thrive, Hyposegmentation of neutrophil nuclei, Giant pl...	OMIM:169400
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome		Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c...	ORPHA:276608
Sickle Cell Anemia		Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas...	ORPHA:232
Diabetes Mellitus, Transient Neonatal, 3		Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus	OMIM:610582
Uremic Pruritus		Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia	ORPHA:94059
Lipodystrophy, Familial Partial, Type 2		Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insu...	OMIM:151660
Insulin-Resistance Syndrome Type B		Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res...	ORPHA:2298
Homozygous 11P15-P14 Deletion Syndrome		Failure to thrive, Hypoglycemia, Hyperinsulinemia	OMIM:606528
Hemoglobin-Delta locus		Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Hyperphenylalaninemia, Bh4-Deficient, D		Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
Hypocalciuric Hypercalcemia, Familial, Type Iii		Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Hypermagnesemia, Multiple lipomas	OMIM:600740
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency		Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancr...	ORPHA:276575
Thrombocytopenia 7		Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla...	OMIM:619130
Primary Orthostatic Tremor		Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Thrombocytopenia, Cyclic		Thrombocytopenia, Neutropenia, Cyclic neutropenia	OMIM:188020
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3		Tremor, Ataxia, Slurred speech	OMIM:613227
Familial Male-Limited Precocious Puberty		Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty	ORPHA:3000
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked		Thrombocytopenia, Spastic diplegia, Increased mean platelet volume	OMIM:300048
Pancreatic And Cerebellar Agenesis		Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Reduced subcutaneous adipo...	OMIM:609069
Congenital Amegakaryocytic Thrombocytopenia		Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Malaria		Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia	ORPHA:673
Gaucher Disease, Atypical, Due To Saposin C Deficiency		Hypocholesterolemia, Myoclonus, Anemia, Intention tremor, Splenomegaly, Hypersplenism, Thrombocyt...	OMIM:610539
Spinal Muscular Atrophy, Jokela Type		Tremor, Fasciculations, Elevated circulating creatine kinase concentration	OMIM:615048
Azoospermia, Obstructive, With Nephrolithiasis		Spermatocele, Obstructive azoospermia, Male infertility	OMIM:301060
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation		Babinski sign, Tremor, Ataxia, Flexion contracture, Spasticity	OMIM:611105
Episodic Ataxia With Slurred Speech		Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Diabetes Mellitus, Ketosis-Prone		Beta-cell dysfunction, Diabetes mellitus, Insulin resistance	OMIM:612227
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome		Amegakaryocytic thrombocytopenia	ORPHA:71289
Mitochondrial Complex Iv Deficiency, Nuclear Type 5		Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Failure to thrive, Increased hepat...	OMIM:220111
Spermatogenic Failure, X-Linked, 2		Testicular atrophy, Male infertility, Azoospermia	OMIM:309120
Polyendocrine-Polyneuropathy Syndrome		Central hypothyroidism, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, D...	ORPHA:453533
Hypomagnesemia 1, Intestinal		Hypomagnesemia, Hypocalcemia	OMIM:602014
Ataxia-Pancytopenia Syndrome		Babinski sign, Hypoplastic anemia, Neutropenia, Dysmetria, Acute myelomonocytic leukemia, Anemia,...	OMIM:159550
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency		Failure to thrive, Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia	ORPHA:2089
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant		Menorrhagia, Increased mean platelet volume, Stomatocytosis, Splenomegaly, Hemolytic anemia	OMIM:153670
Hemoglobin E Disease		Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ...	ORPHA:2133
Hypoglycemia, Leucine-Induced		Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Mandibuloacral Dysplasia With Type B Lipodystrophy		Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Insulin-resis...	OMIM:608612
Neutropenia, Severe Congenital, 5, Autosomal Recessive		Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary hematopoiesis, T...	OMIM:615285
Hypocalciuric Hypercalcemia, Familial, Type I		Hypermagnesemia, Hypercalcemia	OMIM:145980
Beemer Lethal Malformation Syndrome		Thrombocytopenia	OMIM:209970
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency		Cerebral palsy, Abnormal circulating neopterin concentration, Hyperphenylalaninemia, Tremor, Hypo...	ORPHA:1578
Isolated Follicle Stimulating Hormone Deficiency		Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon...	ORPHA:52901
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency		Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo...	ORPHA:79644
Amegakaryocytic Thrombocytopenia, Congenital		Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Familial Hypocalciuric Hypercalcemia		Hypercalcemia, Chondrocalcinosis, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosp...	ORPHA:405
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure		Postural tremor, Myoclonus, Intention tremor, Action tremor, Thrombocytopenia, Gait ataxia	OMIM:254900
Bleeding Disorder, Platelet-Type, 19		Menorrhagia, Macrothrombocytopenia, Anemia	OMIM:616176
Roch-Leri Mesosomatous Lipomatosis		Thrombocytopenia, Multiple lipomas	ORPHA:529
Spinocerebellar Ataxia Type 32		Testicular atrophy, Male infertility, Azoospermia	ORPHA:276183
Pancytopenia And Occlusive Vascular Disease		Pancytopenia, Thrombocytopenia, Anemia, Leukopenia	OMIM:167850
Hemoglobin H Disease		Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly	OMIM:613978
Thalassemia, Beta+, Silent Allele		Reduced beta/alpha synthesis ratio	OMIM:187550
Short Syndrome		Small for gestational age, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intoleranc...	OMIM:269880
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis		Tremor, Spastic paraplegia	OMIM:309560
Spinocerebellar Ataxia 43		Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia	OMIM:617018
Saccharopinuria		Hypercystinemia, Cystinuria, Hyperammonemia, Tremor, Abnormality of circulating enzyme level, Spa...	ORPHA:3124
Preeclampsia		Thrombocytopenia, Elevated circulating creatinine concentration, Small for gestational age	ORPHA:275555
Fetal Hemoglobin Quantitative Trait Locus 1		Persistence of hemoglobin F	OMIM:141749
Hypomagnesemia 6, Renal		Hypomagnesemia	OMIM:613882
Beta-Thalassemia, Dominant Inclusion Body Type		Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre...	OMIM:603902
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay		Tremor, Ataxia	OMIM:213000
Hemophagocytic Lymphohistiocytosis, Familial, 4		Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid...	OMIM:603552
Hypomagnesemia 4, Renal		Hypomagnesemia	OMIM:611718
Hemangioma-Thrombocytopenia Syndrome		Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Spinocerebellar Ataxia Type 15/16		Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a...	ORPHA:98769
Spastic Paraparesis And Deafness		Tremor, Spastic paraparesis, Hypogonadism	OMIM:312910
Greig Cephalopolysyndactyly Syndrome		Umbilical hernia, Hyperglycemia, Joint contracture of the hand, Inguinal hernia, Cryptorchidism, ...	OMIM:175700
Acute Lung Injury		Abnormality of serum cytokine level, Increased circulating surfactant protein level, Increased ci...	ORPHA:178320
Hypomagnesemia, Seizures, And Mental Retardation 1		Hypomagnesemia	OMIM:616418
Hyperinsulinemic Hypoglycemia, Familial, 6		Hyperinsulinemic hypoglycemia, Hypoglycemic seizures	OMIM:606762
Hypocalcemia, Autosomal Dominant 1		Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia	OMIM:601198
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3		Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2		Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5		Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas...	OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4		Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6		Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas...	OMIM:612926
Vitamin B12-Unresponsive Methylmalonic Acidemia		Macrocytic anemia, Leukopenia, Choreoathetosis, Anemia, Paraparesis, Hyperammonemia, Ataxia, Tetr...	ORPHA:27
Leukoencephalopathy, Brain Calcifications, And Cysts		Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, Hemiplegia, Abnormal py...	OMIM:614561
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension		Thrombocytopenia	OMIM:166990
Hyperinsulinism Due To Ucp2 Deficiency		Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Excessive insulin response to glu...	ORPHA:276556
Spermatogenic Failure 9		Globozoospermia	OMIM:613958
Thrombotic Thrombocytopenic Purpura		Reticulocytosis, Thrombocytopenia, Decreased serum creatinine, Microangiopathic hemolytic anemia	ORPHA:54057
Mitchell-Riley Syndrome		Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Absent gallbladder, Bilia...	OMIM:615710
Acute Myelomonocytic Leukemia		Leukocytosis, Weight loss, Anemia, Thrombocytopenia, Eosinophilia	ORPHA:517
Eosinophilia, Familial		Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia	OMIM:131400
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome		Persistence of hemoglobin F, Anemia, Splenomegaly	ORPHA:46532
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0		Neutropenia, Choreoathetosis, Chorea, Anemia, Hyperammonemia, Thrombocytopenia, Hemiplegia/hemipa...	ORPHA:289916
Hereditary Fructose Intolerance		Hypermagnesemia, Hypophosphatemia, Hyperuricemia	ORPHA:469
Mandibuloacral Dysplasia With Type A Lipodystrophy		Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ...	OMIM:248370
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial		Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Vulvovaginal Gingival Syndrome		Abnormality of tumor necrosis factor secretion	ORPHA:83453
Thrombotic Thrombocytopenic Purpura, Hereditary		Schistocytosis, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration,...	OMIM:274150
Erythroleukemia, Familial, Susceptibility To		Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia	OMIM:133180
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes		Cachexia, Hypokalemia, Anemia, Hypomagnesemia, Hypocalcemia	OMIM:175500
Neuroleptic Malignant Syndrome		Hyperkalemia, Leukocytosis, Thrombocytosis, Hyponatremia, Hypernatremia, Elevated circulating cre...	ORPHA:94093
Macrophage Activation Syndrome		Increased circulating interleukin 6, Increased circulating ferritin concentration, Hypertriglycer...	ORPHA:158061
Glutathionuria		Tremor	OMIM:231950
Bardet-Biedl Syndrome 9		Hyperglycemia, Obesity, Truncal obesity	OMIM:615986
Primary Intestinal Lymphangiectasia		Hypoproteinemia, Weight loss, Anemia, Hypocalcemia, Reduced proportion of CD4+ effector memory T ...	ORPHA:90362
Lipodystrophy, Familial Partial, Type 7		Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo...	OMIM:606721
Aromatase Deficiency		Macroorchidism, postpubertal, Hyperlipidemia, Ambiguous genitalia, female, Eunuchoid habitus, Hep...	ORPHA:91
Gray Platelet Syndrome		Thrombocytopenia, Abnormality of the menstrual cycle, Abnormality of thrombocytes, Splenomegaly	ORPHA:721
Thrombocytopenia With Congenital Dyserythropoietic Anemia		Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro...	ORPHA:67044
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1		Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty	OMIM:616033
Lower Motor Neuron Syndrome With Late-Adult Onset		Elevated circulating creatine kinase concentration, Fasciculations, Tremor, Tongue fasciculations...	ORPHA:276435
Dystonia-Parkinsonism-Hypermanganesemia Syndrome		Babinski sign, Scissor gait, Bradykinesia, Hypermanganesemia, Tremor, Ankle clonus, Spasticity, M...	ORPHA:521406
Neuronopathy, Distal Hereditary Motor, Type Viia		Tremor, Vocal cord paralysis, Vocal cord paresis	OMIM:158580
Gitelman Syndrome		Paralysis, Chondrocalcinosis, Hypokalemia, Iron deficiency anemia, Failure to thrive, Hypomagnese...	ORPHA:358
Symptomatic Form Of Hemochromatosis Type 1		Testicular atrophy, Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Hyperglycemia, Hy...	ORPHA:465508
Autosomal Recessive Spastic Paraplegia Type 46		Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormal sperm head morphology, D...	ORPHA:320391
Preeclampsia/Eclampsia 1		Thrombocytopenia	OMIM:189800
Beta-Thalassemia		Abnormality of iron homeostasis, Hypogonadotropic hypogonadism, Anemia, Abnormal hemoglobin, Sple...	ORPHA:848
Rhabdoid Tumor		Hypercalcemia, Cerebral palsy, Weight loss, Anemia, Hemiplegia, Thrombocytopenia	ORPHA:69077
Congenital Disorder Of Glycosylation, Type Iik		Elevated circulating creatine kinase concentration, Thrombocytopenia, Amelogenesis imperfecta, Fa...	OMIM:614727
Hemoglobin C-Beta-Thalassemia Syndrome		Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Helix Syndrome		Hypermagnesemia, Hypokalemia	OMIM:617671
East Syndrome		Hypokalemia, Hypomagnesemia, Ataxia, Action tremor, Increased circulating renin level	ORPHA:199343
Kenny-Caffey Syndrome, Type 1		Hypomagnesemia, Anemia, Hypocalcemia	OMIM:244460
Methemoglobinemia, Beta Type		Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type		Methemoglobinemia	OMIM:617973
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities		Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A...	OMIM:300835
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease		Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertrig...	OMIM:613101
Renal Failure, Progressive, With Hypertension		Elevated circulating creatinine concentration	OMIM:161900
Acetophenetidin Sensitivity		Methemoglobinemia, Hemolytic anemia	OMIM:200300
Refractory Anemia		Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr...	ORPHA:98826
Fanconi-Bickel Syndrome		Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,...	ORPHA:2088
Forsythe-Wakeling Syndrome		Thrombocytopenia, Decreased body weight	OMIM:613606
Pancreatic Agenesis 1		Pancreatic hypoplasia, Failure to thrive, Diabetes mellitus, Exocrine pancreatic insufficiency, N...	OMIM:260370
Delta-Beta-Thalassemia		Microcytic anemia, Anemia, Abnormal hemoglobin	ORPHA:231237
Parkinson Disease 14, Autosomal Recessive		Clumsiness, Rigidity, Elevated circulating creatine kinase concentration, Bradykinesia, Tremor, A...	OMIM:612953
Insulinoma		Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ...	ORPHA:97279
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1		Schistocytosis, Microangiopathic hemolytic anemia, Hyperlipidemia, Elevated circulating creatinin...	OMIM:235400
Dystonia, Dopa-Responsive		Postural tremor, Babinski sign, Torticollis, Bradykinesia, Cogwheel rigidity, Parkinsonism with f...	OMIM:128230
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-		Neutropenia, Choreoathetosis, Failure to thrive, Anemia, Splenomegaly, Hyperammonemia, Thrombocyt...	ORPHA:79312
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency		Hypospadias, Aplasia of the uterus, Bifid scrotum, Elevated circulating follicle stimulating horm...	ORPHA:90793
Body Mass Index Quantitative Trait Locus 20		Obesity, Hyperinsulinemia	OMIM:618406
Hyperinsulinism-Hyperammonemia Syndrome		Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia	ORPHA:35878
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency		Obesity, Hyperinsulinemia	ORPHA:329249
Thyrocerebrorenal Syndrome		Slurred speech, Thrombocytopenia, Myoclonus, Nonprogressive cerebellar ataxia	ORPHA:3327
Isolated Permanent Neonatal Diabetes Mellitus		Pancreatic hypoplasia, Hyperglycemia, Contractures of the joints of the lower limbs, Failure to t...	ORPHA:99885
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability		Hypomagnesemia, Episodic hypokalemia	ORPHA:564178
Phosphoglycerate Dehydrogenase Deficiency		Thrombocytopenia, Hypertonia, Megaloblastic anemia, Spastic tetraplegia	OMIM:601815
Acquired Idiopathic Sideroblastic Anemia		Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia...	ORPHA:75564
Anemia, Sideroblastic, 5		Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia	OMIM:619523
Fanconi Anemia, Complementation Group V		Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia	OMIM:617243
Obesity Due To Sim1 Deficiency		Obesity, Glucose intolerance, Hyperinsulinemia	ORPHA:369873
Aicardi-Goutieres Syndrome 3		Thrombocytopenia, Hepatosplenomegaly, Spasticity	OMIM:610329
Pontocerebellar Hypoplasia, Type 15		Chronic neutropenia, Anemia, Spastic tetraplegia, Hypertonia, Thrombocytopenia	OMIM:619302
Alpha-Thalassemia-Myelodysplastic Syndrome		Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin	ORPHA:231401
Encephalopathy, Progressive, With Or Without Lipodystrophy		Myoclonus, Tremor, Ataxia, Hypertriglyceridemia, Tetraparesis, Spasticity, Abnormal pyramidal sign	OMIM:615924
Solitary Fibrous Tumor/Hemangiopericytoma		Hypoglycemia, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypogl...	ORPHA:2126
Sea-Blue Histiocyte Disease		Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly	OMIM:269600
Bilateral Striopallidodentate Calcinosis		Thrombocytopenia	ORPHA:1980
Hemophagocytic Lymphohistiocytosis, Familial, 1		Hyponatremia, Hypoalbuminemia, Decreased HDL cholesterol concentration, Hypoproteinemia, Leukopen...	OMIM:267700
Epilepsy, Progressive Myoclonic, 6		Tremor, Ataxia, Myoclonus, Elevated circulating creatine kinase concentration	OMIM:614018
Segawa Syndrome, Autosomal Recessive		Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo...	OMIM:605407
Autoinflammation With Infantile Enterocolitis		Failure to thrive, Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating...	OMIM:616050
Leukoencephalopathy, Progressive, With Ovarian Failure		Tremor, Ataxia, Apraxia, Spasticity, Premature ovarian insufficiency	OMIM:615889
Bleeding Disorder, Platelet-Type, 20		Thrombocytopenia, Menorrhagia	OMIM:616913
Von Willebrand Disease, Type 2		Thrombocytopenia, Menorrhagia	OMIM:613554
Hypermanganesemia With Dystonia 1		Unconjugated hyperbilirubinemia, Rigidity, Polycythemia, Abnormality of extrapyramidal motor func...	OMIM:613280
Relapsing Fever		Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ...	ORPHA:91547
Hypomagnesemia 2, Renal		Hypomagnesemia, Chondrocalcinosis, Hypokalemia	OMIM:154020
Estrogen Resistance		Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia	OMIM:615363
Spinal And Bulbar Muscular Atrophy, X-Linked 1		Testicular atrophy, Elevated circulating creatine kinase concentration, Fasciculations, Tremor, D...	OMIM:313200
Fanconi Anemia, Complementation Group G		Leukemia, Thrombocytopenia, Neutropenia, Anemia	OMIM:614082
Platelet Signal Processing Defect		Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele...	OMIM:173590
Cernunnos-Xlf Deficiency		B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia	ORPHA:169079
Bdv Syndrome		Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad...	OMIM:619326
Takenouchi-Kosaki Syndrome		Increased mean platelet volume, Ataxia, Camptodactyly, Thrombocytopenia, Inguinal hernia	OMIM:616737
Trichohepatoenteric Syndrome 1		Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo...	OMIM:222470
Gaucher Disease, Type Iii		Myoclonus, Splenomegaly, Ataxia, Pancytopenia, Thrombocytopenia, Decreased body weight, Spastic p...	OMIM:231000
Combined Oxidative Phosphorylation Deficiency 14		Thrombocytopenia, Aminoaciduria, Myoclonus, Anemia	OMIM:614946
Dyskinesia, Limb And Orofacial, Infantile-Onset		Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus	OMIM:616921
Spinocerebellar Ataxia Type 31		Tremor, Gait ataxia, Spasticity	ORPHA:217012
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia		Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Failure to thrive	OMIM:617718
Congenital Bilateral Absence Of Vas Deferens		Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility	ORPHA:48
Diffuse Neonatal Hemangiomatosis		Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Spinocerebellar Ataxia, Autosomal Recessive 16		Babinski sign, Tremor, Hypogonadism, Truncal ataxia, Spasticity, Ankle clonus, Limb ataxia	OMIM:615768
Alpha-Methylacyl-Coa Racemase Deficiency		Tremor, Ataxia, Spasticity, Hypergonadotropic hypogonadism	OMIM:614307
Bernard-Soulier Syndrome		Menorrhagia, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggreg...	ORPHA:274
Hyperphenylalaninemia, Bh4-Deficient, C		Choreoathetosis, Myoclonus, Hyperphenylalaninemia, Tremor, Hypertonia	OMIM:261630
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2		Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr...	OMIM:619041
Spinocerebellar Ataxia, Autosomal Recessive 4		Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, Gait ataxia	OMIM:607317
Aicardi-Goutieres Syndrome 6		Tremor, Hemolytic anemia, Rigidity	OMIM:615010
Hypomagnesemia, Seizures, And Mental Retardation 2		Hypomagnesemia, Hypokalemia	OMIM:618314
Pontocerebellar Hypoplasia, Type 14		Chronic neutropenia, Thrombocytopenia, Hypertonia, Spastic tetraplegia	OMIM:619301
Myopathy, Spheroid Body		Tremor, Elevated circulating creatine kinase concentration	OMIM:182920
Necrotizing Enterocolitis		Hyperglycemia, Abnormal glucose homeostasis, Small for gestational age, Peritonitis	ORPHA:391673
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3		Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Ataxia, Gait ataxia	OMIM:618387
Folate Malabsorption, Hereditary		Athetosis, Neutropenia, Leukopenia, Failure to thrive, Ataxia, Thrombocytopenia, Folate-responsiv...	OMIM:229050
Atypical Hemolytic Uremic Syndrome		Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Spinocerebellar Ataxia Type 20		Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Atax...	ORPHA:101110
Bone Marrow Failure Syndrome 2		Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Parkinson Disease 15, Autosomal Recessive Early-Onset		Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s...	OMIM:260300
Androgen Insensitivity Syndrome		Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o...	ORPHA:754
Tubulointerstitial Nephritis With Uveitis		Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis	OMIM:607665
Spinocerebellar Ataxia 37		Tremor, Ataxia, Frequent falls	OMIM:615945
Hypokalemic Periodic Paralysis		Adrenocortical adenoma, Postprandial hyperglycemia	ORPHA:681
Adult Acute Respiratory Distress Syndrome		Increased circulating interleukin 6, Abnormality of tumor necrosis factor secretion, Abnormal ser...	ORPHA:70578
Intellectual Developmental Disorder, Autosomal Recessive 6		Involuntary movements, Myoclonus, Tremor	OMIM:611092
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions		Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism	ORPHA:401901
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1		Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance		Hypokalemia, Intention tremor, Hypomagnesemia, Ataxia, Dysdiadochokinesis, Increased circulating ...	OMIM:612780
Thyrocerebroretinal Syndrome		Slurred speech, Thrombocytopenia, Myoclonus, Ataxia	OMIM:274240
Fetal Parvovirus Syndrome		Thrombocytopenia, Anemia	ORPHA:295
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome		Keloids, Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadism, Obesity, ...	ORPHA:3085
Retinitis Pigmentosa		Type II diabetes mellitus, Hypogonadism, Abnormal testis morphology, Atypical scarring of skin, O...	ORPHA:791
Gaucher Disease, Type Ii		Rigidity, Failure to thrive, Anemia, Splenomegaly, Oculomotor apraxia, Spasticity, Thrombocytopenia	OMIM:230900
Colchicine Poisoning		Leukocytosis, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal...	ORPHA:31824
Adult Neuronal Ceroid Lipofuscinosis		Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ...	ORPHA:79262
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement		Tremor, Chorea, Hemiballismus, Frequent falls	ORPHA:494526
Dystonia 3, Torsion, X-Linked		Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication	OMIM:314250
Thyrotoxic Periodic Paralysis		Paralysis, Hyperkalemia, Episodic hypokalemia, Weight loss, Respiratory paralysis, Mildly elevate...	ORPHA:79102
Hyperphenylalaninemia, Bh4-Deficient, A		Rigidity, Choreoathetosis, Small for gestational age, Bradykinesia, Hyperphenylalaninemia, Tremor...	OMIM:261640
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome		Decreased prealbumin level, Failure to thrive in infancy, Neutropenia, Cachexia, Neutropenia in p...	ORPHA:37042
3-Methylglutaconic Aciduria Type 4		Failure to thrive, Thrombocytopenia, Spasticity	ORPHA:67048
Leukodystrophy, Hypomyelinating, 11		Tremor, Ataxia, Spasticity	OMIM:616494
Coenzyme Q10 Deficiency, Primary, 8		Elevated circulating creatinine concentration, Small for gestational age, Flexion contracture	OMIM:616733
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease		Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Acute myeloi...	ORPHA:158057
Diffuse Alveolar Hemorrhage		Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia	ORPHA:90060
Leishmaniasis		Leukopenia, Weight loss, Anemia, Splenomegaly, Abnormal macrophage morphology, Hypoalbuminemia, P...	ORPHA:507
Behr Syndrome		Progressive spasticity, Babinski sign, Dysmetria, Hamstring contractures, Achilles tendon contrac...	OMIM:210000
Cyanosis, Transient Neonatal		Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Hyperinsulinism Due To Hnf4A Deficiency		Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,...	ORPHA:263455
Obesity Due To Congenital Leptin Deficiency		Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o...	ORPHA:66628
Hypertriglyceridemia 1		Glucose intolerance, Hypopituitarism	OMIM:145750
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency		Megaloblastic anemia, Ataxia, Eyelid myoclonus, Pancytopenia, Thrombocytopenia	OMIM:613839
Hyperlipoproteinemia, Type Iv		Glucose intolerance, Hypopituitarism	OMIM:144600
Migraine, Familial Hemiplegic, 1		Tremor, Hemiparesis, Ataxia, Hemiplegia	OMIM:141500
Syndromic Diarrhea		Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet volume, Small for gestat...	ORPHA:84064
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements		Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements	OMIM:618425
Rapidly Involuting Congenital Hemangioma		Thrombocytopenia, Lipoatrophy	ORPHA:141184
Glut1 Deficiency Syndrome 2		Reticulocytosis, Tremor, Ataxia, Choreoathetosis	OMIM:612126
Fanconi Anemia, Complementation Group T		Pancytopenia, Thrombocytopenia, Anemia	OMIM:616435
Familial Hemophagocytic Lymphohistiocytosis		Abnormality of serum cytokine level, Increased circulating interleukin 6, Decreased circulating a...	ORPHA:540
Methylmalonic Aciduria, Cbla Type		Neutropenia, Methylmalonic acidemia, Failure to thrive, Anemia, Hyperglycinemia, Hyperammonemia, ...	OMIM:251100
Dk Phocomelia Syndrome		Thrombocytopenia	OMIM:223340
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome		Head titubation, Hypochromic microcytic anemia, Vestibular areflexia, Spastic tetraplegia, Increa...	ORPHA:3240
Pseudo-Von Willebrand Disease		Intermittent thrombocytopenia	OMIM:177820
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia		Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Oligomenorrhea,...	OMIM:228300
Transaldolase Deficiency		Abnormal circulating glutamine concentration, Anemia, Hepatosplenomegaly, Increased serum bile ac...	ORPHA:101028
Autoinflammatory Syndrome, Familial, Behcet-Like		Chorea, Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Lathosterolosis		Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Abnormal circulating cholest...	OMIM:607330
Lymphoproliferative Syndrome 1		Leukopenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Autoimmune thromb...	OMIM:613011
Omenn Syndrome		B lymphocytopenia, Hypoproteinemia, Failure to thrive, Hypoplasia of the thymus, Anemia, Splenome...	OMIM:603554
Rabson-Mendenhall Syndrome		Increased serum testosterone level, Fasting hypoglycemia, Insulin resistance, Insulin-resistant d...	ORPHA:769
Anemia, Sideroblastic, And Spinocerebellar Ataxia		Babinski sign, Clonus, Hypochromic microcytic anemia, Dysmetria, Sideroblastic anemia, Intention ...	OMIM:301310
Developmental And Epileptic Encephalopathy 32		Tremor, Ataxia, Myoclonus	OMIM:616366
Obesity Due To Leptin Receptor Gene Deficiency		Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o...	ORPHA:179494
Alpha-Thalassemia		Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia	ORPHA:846
Drug-Induced Lupus Erythematosus		Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb...	ORPHA:231111
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)		Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia	OMIM:615362
Nephrotic Syndrome, Type 7		Thrombocytopenia, Hemolytic anemia	OMIM:615008
Spastic Ataxia 2, Autosomal Recessive		Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor...	OMIM:611302
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus		Tremor, Kinetic tremor	OMIM:611808
Autosomal Dominant Spastic Ataxia Type 1		Babinski sign, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia, Tremor, H...	ORPHA:251282
Hemophagocytic Lymphohistiocytosis, Familial, 2		Hyponatremia, Hypoalbuminemia, Hypoproteinemia, Leukopenia, Failure to thrive, Anemia, Increased ...	OMIM:603553
Gitelman Syndrome		Paralysis, Chondrocalcinosis, Hypokalemia, Failure to thrive, Hypomagnesemia, Ataxia, Increased c...	OMIM:263800
Bangstad Syndrome		Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality...	ORPHA:1227
Tropical Pancreatitis		Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Wt Limb-Blood Syndrome		Hypoplastic anemia, Leukemia, Pancytopenia, Thrombocytopenia, Joint contracture of the 5th finger	OMIM:194350
Wiskott-Aldrich Syndrome 2		Thrombocytopenia, Decreased proportion of CD8-positive T cells	OMIM:614493
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis		Paralysis, Leukocytosis, Hyponatremia, Myoclonus, Thrombocytopenia	ORPHA:83601
Epilepsy, Progressive Myoclonic 7		Tremor, Ataxia, Myoclonus	OMIM:616187
Polycythemia Vera		Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ...	OMIM:263300
Thrombocytopenia 3		Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Alpha-Thalassemia Myelodysplasia Syndrome		Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia		Hypomagnesemia, Obesity	ORPHA:34527
Congenital Disorder Of Glycosylation, Type Ix		Failure to thrive, Thrombocytopenia	OMIM:615597
Isolated Sedoheptulokinase Deficiency		Hepatitis, Arthrogryposis multiplex congenita, Cholestatic liver disease, Cholestasis, Flexion co...	ORPHA:440713
Partial Androgen Insensitivity Syndrome		Hypospadias, Aplasia of the uterus, Male sexual dysfunction, Bifid scrotum, Fused labia majora, A...	ORPHA:90797
46,Xy Partial Gonadal Dysgenesis		Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog...	ORPHA:251510
Ciliary Dyskinesia, Primary, 45		Absent inner and outer dynein arms, Male infertility	OMIM:618801
Immunodeficiency 46		Anemia, Neutropenia, Failure to thrive, Intermittent thrombocytopenia	OMIM:616740
Severe Neurodegenerative Syndrome With Lipodystrophy		Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi...	ORPHA:363400
Aceruloplasminemia		Involuntary movements, Decreased circulating copper concentration, Hypochromic microcytic anemia,...	ORPHA:48818
Galactokinase Deficiency		Hepatomegaly, Hypoglycemia, Small for gestational age, Failure to thrive, Hepatosplenomegaly, Pre...	ORPHA:79237
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation		Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp...	OMIM:270500
Congenital Disorder Of Glycosylation, Type Iif		Neutropenia, Decreased platelet glycoprotein Ib, Ataxia, Thrombocytopenia, Aminoaciduria, Macroth...	OMIM:603585
47,Xyy Syndrome		Hypospadias, Oligospermia, Macroorchidism, Azoospermia, Increased circulating gonadotropin level,...	ORPHA:8
Congenital Disorder Of Glycosylation, Type Ih		Hypoalbuminemia, Failure to thrive, Anemia, Camptodactyly, Thrombocytopenia	OMIM:608104
Osteopetrosis, Autosomal Recessive 8		Failure to thrive, Thrombocytopenia, Anemia, Splenomegaly	OMIM:615085
+173470 integrin, beta-3		Post-transfusion thrombocytopenia, Menorrhagia, Decreased platelet glycoprotein IIb-IIIa, Neonata...	OMIM:173470
Methylmalonic Aciduria And Homocystinuria, Cblj Type		Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Homocystinuria, Anemia, Thrombocytopeni...	OMIM:614857
Methylmalonic Aciduria And Homocystinuria, Cblf Type		Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Cystathioninuria, Cystathioninemia, Fai...	OMIM:277380
Classic Galactosemia		Secondary amenorrhea, Hepatomegaly, Oligomenorrhea, Male infertility, Primary amenorrhea, Prematu...	ORPHA:79239
Perlman Syndrome		Hepatomegaly, Inguinal hernia, Abnormal pancreas morphology, Cryptorchidism, Hyperinsulinemia, Fe...	ORPHA:2849
Osteopetrosis, Autosomal Recessive 5		Clonus, Anemia, Decreased osteoclast count, Spastic tetraplegia, Splenomegaly, Hyperbilirubinemia...	OMIM:259720
Crigler-Najjar Syndrome Type 1		Tremor, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79234
Purine Nucleoside Phosphorylase Deficiency		Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, Increased circulating inosine...	OMIM:613179
Aicardi-Goutieres Syndrome 5		Thrombocytopenia, Flexion contracture, Spasticity	OMIM:612952
Coach Syndrome 2		Oculomotor apraxia, Elevated circulating creatinine concentration	OMIM:619111
Beta-Ketothiolase Deficiency		Hyperglycemia, Hepatomegaly, Weight loss, Hypoglycemia	ORPHA:134
Cystathioninuria		Tremor, Cystathioninuria, Cystathioninemia	ORPHA:212
Holocarboxylase Synthetase Deficiency		Thrombocytopenia, Weight loss, Ataxia, Hyperammonemia	ORPHA:79242
Parkinson Disease 13, Autosomal Dominant, Susceptibility To		Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity	OMIM:610297
C3 Glomerulopathy		Elevated circulating creatinine concentration, Lipodystrophy	ORPHA:329918
Congenital Generalized Lipodystrophy		Hepatomegaly, Precocious puberty in females, Insulin resistance, Failure to thrive, Lipodystrophy...	ORPHA:528
Idiopathic Non-Lupus Full-House Nephropathy		Elevated circulating creatinine concentration	ORPHA:567544
Pearson Syndrome		Neutropenia, Hypokalemia, Small for gestational age, Anemia, Hypophosphatemia, Splenomegaly, Hypo...	ORPHA:699
Hypermanganesemia With Dystonia 2		Babinski sign, Bradykinesia, Tremor, Ankle clonus, Spasticity, Flexion contracture, Parkinsonism	OMIM:617013
Storage Pool Platelet Disease		Decreased mean platelet volume, Acute leukemia	OMIM:185050
Isolated Agammaglobulinemia		Failure to thrive, Abnormal lymphocyte morphology, Anemia, Thrombocytopenia, Cellulitis, Abnormal...	ORPHA:229717
Thiamine-Responsive Megaloblastic Anemia Syndrome		Thiamine-responsive megaloblastic anemia, Sideroblastic anemia, Ataxia, Thrombocytopenia, Aminoac...	OMIM:249270
Stormorken Syndrome		Asplenia, Elevated circulating creatine kinase concentration, Anemia, Howell-Jolly bodies, Thromb...	OMIM:185070
Refractory Anemia With Excess Blasts		Leukocytosis, Abnormal mean corpuscular volume, Abnormal circulating albumin concentration, Acute...	ORPHA:86839
Nephrogenic Syndrome Of Inappropriate Antidiuresis		Hyponatremia, Decreased serum creatinine, Decreased circulating renin level	OMIM:300539
Acquired Aneurysmal Subarachnoid Hemorrhage		Hyperglycemia, Hypothyroidism, Hypopituitarism	ORPHA:90065
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency		Decreased hemoglobin concentration, Hyperbilirubinemia, Tremor, Ataxia, Reticulocytosis, Hemolyti...	ORPHA:713
Atypical Pantothenate Kinase-Associated Neurodegeneration		Clumsiness, Parkinsonism, Rigidity, Frequent falls, Chorea, Tremor, Spasticity, Upper motor neuro...	ORPHA:216873
Moyamoya Disease With Early-Onset Achalasia		Thrombocytopenia, Abnormal platelet aggregation	ORPHA:401945
Pearson Marrow-Pancreas Syndrome		Small for gestational age, Failure to thrive, Diabetes mellitus, Type I diabetes mellitus, Pancre...	OMIM:557000
Thrombocytopenia 5		Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency		Methylmalonic acidemia, Leukopenia, Failure to thrive, Hyperglycinemia, Hyperammonemia, Thrombocy...	OMIM:251000
Aicardi-Goutieres Syndrome 4		Splenomegaly, Hepatosplenomegaly, Spasticity, Pancytopenia, Thrombocytopenia	OMIM:610333
Progressive Supranuclear Palsy-Corticobasal Syndrome		Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Trem...	ORPHA:240103
Hereditary Amyloidosis With Primary Renal Involvement		Oligospermia, Hepatomegaly, Decreased HDL cholesterol concentration, Elevated circulating creatin...	ORPHA:85450
Spinocerebellar Ataxia Type 37		Myoclonus, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis, Truncal ataxia	ORPHA:363710
Wolfram Syndrome, Mitochondrial Form		Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia	OMIM:598500
Parkinson Disease 19A, Juvenile-Onset		Rigidity, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Parkinsonism	OMIM:615528
Ciliary Dyskinesia, Primary, 34		Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti...	OMIM:617091
Methylmalonic Aciduria, Cblb Type		Neutropenia, Methylmalonic acidemia, Failure to thrive, Anemia, Hyperglycinemia, Hyperammonemia, ...	OMIM:251110
Transcobalamin Deficiency		Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia	ORPHA:859
Propionic Acidemia		Neutropenia, Limb hypertonia, Failure to thrive, Anemia, Hyperglycinemia, Hyperammonemia, Hypergl...	OMIM:606054
Hereditary Motor And Sensory Neuropathy, Okinawa Type		Tremor, Elevated circulating creatine kinase concentration, Limb fasciculations	ORPHA:90117
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities		Failure to thrive, Thrombocytopenia, Limb hypertonia, Spasticity	OMIM:616577
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase		Polycythemia, Methemoglobinemia, Opisthotonus, Hypertonia	OMIM:250800
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis		Postural tremor, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tremor, Parkinsonism with favo...	ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 30		Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Ataxia, Increased serum py...	OMIM:619405
Spinocerebellar Ataxia 18		Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis	OMIM:607458
Interstitial Nephritis, Karyomegalic		Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Diarrhea 10, Protein-Losing Enteropathy Type		Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia	OMIM:618183
Dystonia 11, Myoclonic		Torticollis, Myoclonus, Tremor	OMIM:159900
Thrombocytopenia 1		Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia	OMIM:313900
Spinocerebellar Ataxia, Autosomal Recessive 21		Frequent falls, Splenomegaly, Tremor, Ataxia, Spasticity, Gait ataxia	OMIM:616719
Hydrops, Lactic Acidosis, And Sideroblastic Anemia		Thrombocytopenia, Sideroblastic anemia	OMIM:617021
Epilepsy, Familial Adult Myoclonic, 4		Tremor, Myoclonus	OMIM:615127
African Iron Overload		Hepatomegaly, Hepatic fibrosis, Abnormal thyroid morphology, Elevated hepatic iron concentration,...	ORPHA:139507
Imerslund-Gräsbeck Syndrome		Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce...	ORPHA:35858
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment		Elevated circulating creatinine concentration	OMIM:242530
Nephronophthisis-Like Nephropathy 2