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Gene: Vgf MGI:1343180

Gene Summary

Name:

VGF nerve growth factor inducible

Synonyms:

LOC381677

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 aspartate transaminase level	Vgf^em1(IMPC)H	HOM	Early adult	8.68×10^-05
increased exploration in new environment	Vgf^em1(IMPC)H	HOM	Early adult	1.20×10^-06
decreased circulating fructosamine level	Vgf^em1(IMPC)H	HOM	Early adult	1.53×10^-08
male infertility	Vgf^em1(IMPC)H	HOM	Early adult	0.00
decreased circulating glucose level	Vgf^em1(IMPC)H	HOM	Early adult	2.26×10^-08
short tibia	Vgf^em1(IMPC)H	HOM	Early adult	5.44×10^-06
increased grip strength	Vgf^em1(IMPC)H	HOM	Early adult	1.24×10^-05
decreased spleen weight	Vgf^em1(IMPC)H	HOM	Early adult	6.29×10^-05
decreased prepulse inhibition	Vgf^em1(IMPC)H	HOM	Early adult	2.60×10^-07
increased circulating total protein level	Vgf^em1(IMPC)H	HOM	Early adult	9.52×10^-05
limb grasping	Vgf^em1(IMPC)H	HOM	Early adult	4.80×10^-09
hyperactivity	Vgf^em1(IMPC)H	HOM	Early adult	1.48×10^-28
abnormal locomotor behavior	Vgf^em1(IMPC)H	HOM	Early adult	1.22×10^-10
increased circulating alanine transaminase level	Vgf^em1(IMPC)H	HOM	Early adult	2.29×10^-12
tremors	Vgf^em1(IMPC)H	HOM	Early adult	5.01×10^-05

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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 Lateral Orientation

3 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

3 Images

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Human diseases caused by Vgf 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 Vgf (0 diseases)
Human diseases predicted to be associated with Vgf (1254 diseases)

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

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

Disease	Matching phenotypes	Source
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Monoamine Oxidase A Deficiency	Cognitive impairment	ORPHA:3057
Hyperaldosteronism, Familial, Type I	Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrom...	OMIM:103900
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Hyperaldosteronism, Familial, Type Iv	Hyperaldosteronism, Elevated aldosterone:renin ratio, Hypertension	OMIM:617027
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Myocardial infarction, Diabetes mellitus	OMIM:608320
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi...	OMIM:160120
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Hypertension, Adrena...	OMIM:201910
Pheochromocytoma/Paraganglioma Syndrome 3	Elevated circulating catecholamine level, Chemodectoma, Palpitations, Hypertension associated wit...	OMIM:605373
Sandhoff Disease, Adult Form	Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creat...	ORPHA:309169
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Pituitary Adenoma 1, Multiple Types	Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio...	OMIM:102200
Coronary Artery Disease, Autosomal Dominant 2	Type II diabetes mellitus, Sudden cardiac death, Hypertension, Myocardial infarction	OMIM:610947
Hyperaldosteronism, Familial, Type Ii	Hyperaldosteronism, Hypertension	OMIM:605635
Obesity Due To Melanocortin 4 Receptor Deficiency	Type II diabetes mellitus, Hyperinsulinemia, Hypertension	ORPHA:71529
Spinal Muscular Atrophy, Jokela Type	Fasciculations, Difficulty walking, Pes cavus, Tremor, Elevated circulating creatine kinase conce...	OMIM:615048
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level	OMIM:605115
Familial Hyperaldosteronism Type Ii	Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Abnormal circulating renin, Int...	ORPHA:404
Familial Hyperaldosteronism Type I	Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Dexamethasone-suppressible prim...	ORPHA:403
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenogenital syndrome, Hypertension, Adrenal hyperplasia	OMIM:202110
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Absent patellar reflexes, Abnormal foot morphology, Tremor, Decreased patellar reflex, Mildly ele...	OMIM:614369
Pheochromocytoma/Paraganglioma Syndrome 1	Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Palpitations, Caroti...	OMIM:168000
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Limb dystonia, Emotional lability, Parkinsonism, Abnormal pyramidal sign, Cognitive i...	ORPHA:216873
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension	OMIM:166990
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Depression, Memory impairment, Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parki...	ORPHA:401901
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT...	OMIM:615954
Optic Atrophy 2	Babinski sign, Absent Achilles reflex, Dysdiadochokinesis, Tremor	OMIM:311050
Leukoencephalopathy, Brain Calcifications, And Cysts	Mental deterioration, Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor functio...	OMIM:614561
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Polycystic Kidney Disease 7	Hypertension	OMIM:620056
Familial Partial Lipodystrophy, Köbberling Type	Polycystic ovaries, Hyperinsulinemia, Hypertension, Diabetes mellitus	ORPHA:79084
Pseudohypoaldosteronism, Type Iia	Pseudohypoaldosteronism, Hypertension	OMIM:145260
Ovarian Dysgenesis 9	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar...	OMIM:619665
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h...	OMIM:600955
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test...	OMIM:614841
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Dec...	ORPHA:168563
Preeclampsia/Eclampsia 1	Hypertension	OMIM:189800
Encephalopathy, Progressive, With Or Without Lipodystrophy	Mental deterioration, Spasticity, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal...	OMIM:615924
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Transient ischemic attack, Hypertension	OMIM:616779
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Polycystic ovaries, Abnormal circulating hormone concentration, Hypertension, I...	ORPHA:280356
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Ankle flexion contracture, Spasticity, Inability to walk, Ankle clonus, Irritability, Babinski si...	OMIM:616657
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Increased circulating ACTH level, Increased circulating and...	OMIM:615962
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Hypertension, Adrenal hyperplasia, Decreased circulating renin level	OMIM:613677
Citrullinemia Type Ii	Abnormal eating behavior, Hepatic steatosis, Delirium, Hepatomegaly, Restlessness, Mania, Hypopro...	ORPHA:247585
Acth-Independent Macronodular Adrenal Hyperplasia	Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre...	OMIM:219080
Ovarian Dysgenesis 2	Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of...	OMIM:300510
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Spastic Paraplegia-Nephritis-Deafness Syndrome	Hypertension	ORPHA:2820
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o...	ORPHA:90796
Lessel-Kubisch Syndrome	Hypogonadism, Hypertension	OMIM:618681
Morbid Obesity And Spermatogenic Failure	Type II diabetes mellitus, Hypertension, Myocardial infarction, Congestive heart failure	OMIM:615703
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decreased testi...	ORPHA:453533
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm...	ORPHA:3464
Premature Ovarian Failure 18	Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ...	OMIM:619203
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidism, Hypogona...	OMIM:614837
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Hypertension...	OMIM:615830
Familial Hyperaldosteronism Type Iii	Epistaxis, Adrenal hyperplasia, Abnormal circulating renin, Prolonged QT interval, Intracranial h...	ORPHA:251274
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Ovarian Dysgenesis 7	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva...	OMIM:618117
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hyperglycemia, Transie...	ORPHA:99886
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Spasticity, Gait ataxia, Rigidity, Clumsiness, Hyperactivity, Dystonia, Dysphagia, Impulsivity	OMIM:620448
Pure Autonomic Failure	Abnormality of circulating catecholamine level, Syncope, Orthostatic hypotension	ORPHA:441
Normosmic Congenital Hypogonadotropic Hypogonadism	Absence of pubertal development, Non-obstructive azoospermia, Cryptorchidism, Increased female li...	ORPHA:432
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Cardiomyopathy, Familial Hypertrophic, 30, Atrial	Atrial fibrillation, Reduced left ventricular ejection fraction, Atrial flutter, Hypertension	OMIM:620734
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Spasticity, Tremor, Babinski sign, Cognitive impairment, Ataxia	OMIM:611105
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu...	OMIM:240900
Premature Ovarian Failure 7	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Elevate...	OMIM:612964
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Intellectual Developmental Disorder, Autosomal Recessive 48	Small hand, Inability to walk, Inappropriate laughter, Emotional lability, Tremor, Self-mutilatio...	OMIM:616269
Ovarian Dysgenesis 10	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas...	OMIM:619834
Liddle Syndrome 2	Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level	OMIM:618126
Dystonia 11, Myoclonic	Depression, Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive beh...	OMIM:159900
Perrault Syndrome 4	Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ...	OMIM:615300
Premature Ovarian Failure 6	Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul...	OMIM:612310
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Palpitations, Adrenal hyperplasia, Decreased circulating renin level, Hypertension, Gl...	ORPHA:231580
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc...	OMIM:241080
Estrogen Resistance	Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Glucose intolerance, Polycystic ovar...	OMIM:615363
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Epilepsy, Progressive Myoclonic, 6	Memory impairment, Difficulty walking, Pes cavus, Myoclonus, Tremor, Elevated circulating creatin...	OMIM:614018
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Nail-Patella-Like Renal Disease	Hypertension	ORPHA:2613
Adult Neuronal Ceroid Lipofuscinosis	Mental deterioration, Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function...	ORPHA:79262
Ovarian Dysgenesis 6	Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar...	OMIM:618078
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:614129
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Hypertension, Decreased serum leptin, Diabetic ketoacidosis	OMIM:615238
Trimethylaminuria	Tachycardia, Hypertension	OMIM:602079
Perrault Syndrome 6	Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl...	OMIM:617565
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S...	OMIM:201250
Spinocerebellar Ataxia 43	Limb ataxia, Gait ataxia, Pes cavus, Tremor, Rigidity, Ataxia	OMIM:617018
Ovarian Dysgenesis 5	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f...	OMIM:617690
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty...	OMIM:619326
Premature Ovarian Failure 21	Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll...	OMIM:620311
Glutaric Aciduria Iii	Hypertension, Hyperthyroidism, Goiter	OMIM:231690
Episodic Ataxia With Slurred Speech	Gait ataxia, Tremor, Slurred speech	ORPHA:401953
Migraine, Familial Hemiplegic, 1	Hemiplegia, Confusion, Tremor, Hemiparesis, Ataxia, Agitation	OMIM:141500
Lower Motor Neuron Syndrome With Late-Adult Onset	Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Elevated circulating creatine k...	ORPHA:276435
Liddle Syndrome 1	Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level	OMIM:177200
Basal Ganglia Calcification, Idiopathic, 1	Mental deterioration, Depression, Memory impairment, Bradykinesia, Chorea, Limb dysmetria, Tremor...	OMIM:213600
Ganglioneuroma	Gastrointestinal hemorrhage, Abnormality of the adrenal glands, Hypertension, Neoplasm of the adr...	ORPHA:251992
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Increased LDL cholesterol concentration, Tetraplegia, Ataxia, Hepatomegaly, Jau...	OMIM:267700
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Pes cavus, Palmoplantar hyperkeratosis, Tremor	OMIM:309560
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart...	ORPHA:3193
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro...	OMIM:612885
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Tremor, Irritability, Hyperphenylalaninemia, Hypertonia, Progressive neurologic deteri...	OMIM:261630
Spinocerebellar Ataxia 37	Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls	OMIM:615945
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Memory impairment, Leg muscle stiffness, Difficulty walking, Limb ataxia, Pes...	ORPHA:251282
Hypogonadotropic Hypogonadism 25 With Anosmia	Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-...	OMIM:618841
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Ataxia, Spasticity, Laryngeal dystonia, Bradykinesia, Chorea, Decreased circulatin...	OMIM:606159
Fibular Hemimelia	Toe syndactyly, Short tibia, Limited knee flexion/extension, Finger syndactyly, Difficulty walkin...	ORPHA:93323
X-Linked Hypohidrotic Ectodermal Dysplasia	Type I diabetes mellitus, Hypertension, Anterior hypopituitarism	ORPHA:181
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Pseudohypoaldosteronism, Type Iib	Pseudohypoaldosteronism, Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Pseudohypoaldosteronism, Hypertension	OMIM:614495
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary	ORPHA:1875
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular f...	OMIM:540000
Iga Nephropathy, Susceptibility To, 3	Hypertension	OMIM:616818
Premature Ovarian Failure 8	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated...	OMIM:615723
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Hypogonadism, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Cognitive impairment,...	OMIM:615768
Premature Ovarian Failure 5	Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu...	OMIM:611548
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing hormone stimu...	OMIM:616030
Premature Ovarian Failure 13	Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen...	OMIM:617442
Glut1 Deficiency Syndrome 2	Reticulocytosis, Tremor, Splenomegaly, Reduced haptoglobin level, Irritability, Ataxia, Dystonia,...	OMIM:612126
Adrenocortical Carcinoma	Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre...	ORPHA:1501
Congenital Glucokinase-Related Hyperinsulinism	Hand tremor, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal...	ORPHA:79299
Iga Nephropathy, Susceptibility To, 2	Hypertension	OMIM:613944
46,Xx Gonadal Dysgenesis	Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De...	ORPHA:243
Focal Segmental Glomerulosclerosis 5	Hypertension	OMIM:613237
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Apparent Mineralocorticoid Excess	Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level	OMIM:218030
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Mental deterioration, Depression, Confusion, Myoclonus, Gait ataxia, Tremor, Abnormality of extra...	OMIM:615362
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo...	OMIM:614842
Focal Segmental Glomerulosclerosis 2	Hypertension	OMIM:603965
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hypertension	OMIM:607832
Multiple Endocrine Neoplasia, Type Iia	Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo...	OMIM:171400
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia	ORPHA:397685
Dystonia 12	Depression, Bradykinesia, Emotional lability, Tremor, Parkinsonism, Torticollis, Unsteady gait, D...	OMIM:128235
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Hypotension, Hypertension	OMIM:611489
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp...	OMIM:127300
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Bradykinesia, Incoordination, Postural tremor, Pes cavus, Gait ataxia...	OMIM:128230
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ...	ORPHA:240
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc...	ORPHA:785
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Decreased circula...	ORPHA:231625
Renal Failure, Progressive, With Hypertension	Hypertension	OMIM:161900
Pigmented Nodular Adrenocortical Disease, Primary, 1	Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,...	OMIM:610489
Cystic Hamartoma Of Lung And Kidney	Hypertension	ORPHA:2111
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Glomerulopathy With Fibronectin Deposits 2	Hypertension	OMIM:601894
Pigmented Nodular Adrenocortical Disease, Primary, 2	Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci...	OMIM:610475
46,Xy Partial Gonadal Dysgenesis	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,...	ORPHA:251510
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ...	OMIM:616053
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension	ORPHA:1345
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Bilateral coxa valga, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia	OMIM:620270
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Keloids, Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Cryptor...	ORPHA:3085
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Inability to walk, Limb fasciculations, Abnormal glucose homeostasis, Tremor, Elevated circulatin...	ORPHA:90117
Potocki-Shaffer Syndrome	Delayed puberty, Hypothyroidism, Hypertension	ORPHA:52022
Premature Ovarian Failure 9	Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir...	OMIM:615724
Lipodystrophy, Familial Partial, Type 4	Hypertension, Insulin-resistant diabetes mellitus	OMIM:613877
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Second degree atrioventricular block, Hyperaldosteronism, Adrenal hyperplasia, Abnorma...	ORPHA:369929
Pseudohypoaldosteronism, Type Iie	Pseudohypoaldosteronism, Hypertension	OMIM:614496
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed...	ORPHA:52901
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Tetraplegia, Ataxia, Hepatomegaly, Jaundice, ...	OMIM:603553
Frasier Syndrome	Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G...	ORPHA:347
Langer Mesomelic Dysplasia	Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul...	OMIM:249700
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Abnormality of the ovary, Obesity, Increased serum testosterone level...	ORPHA:247768
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Pes cavus, Gait ataxia, Dysmetria, Tremor, Elevated circulating creatine kinase concentration, St...	OMIM:618387
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal...	OMIM:262600
Spinocerebellar Ataxia Type 12	Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Gai...	ORPHA:98762
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased serum testosterone concentration, Decreased te...	OMIM:614897
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Congenital Generalized Lipodystrophy	Insulin resistance, Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Overg...	ORPHA:528
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co...	OMIM:273250
Glomerulopathy With Fibronectin Deposits 1	Hypertension	OMIM:137950
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Attention deficit hyperactivity disorder, Oligozoospermia, Macroo...	ORPHA:3000
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal la...	ORPHA:435660
Congenital Disorder Of Glycosylation, Type Ij	Micrognathia, Clinodactyly of the 5th finger, Tremor, Aggressive behavior, Hypertonia, Jaundice, ...	OMIM:608093
Hyperphenylalaninemia, Bh4-Deficient, D	Transient hyperphenylalaninemia, Hypertonia, Tremor, Hyperphenylalaninemia	OMIM:264070
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular size, Increased...	OMIM:202010
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,...	ORPHA:2235
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical...	ORPHA:98769
Saccharopinuria	Mental deterioration, Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Hyperlysinemia, Abnor...	ORPHA:3124
Pseudohypoaldosteronism, Type Iic	Pseudohypoaldosteronism, Hypertension, Decreased circulating renin level	OMIM:614492
Leptin Deficiency Or Dysfunction	Hypogonadism, Decreased testicular size, Obesity, Polyphagia, Primary amenorrhea, Micropenis, Dec...	OMIM:614962
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Bradykinesia, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Scissor gait, ...	ORPHA:521406
Satoyoshi Syndrome	Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog...	ORPHA:3130
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Moyamoya Disease With Early-Onset Achalasia	Hypertension, Raynaud phenomenon	ORPHA:401945
Multiple Myeloma	Elevated circulating creatinine concentration, Splenomegaly, Lymphadenopathy, Anemia, Hyperprotei...	ORPHA:29073
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i...	ORPHA:79085
Solitary Fibrous Tumor	Uterine neoplasm, Hypoglycemia, Recurrent hypoglycemia, Vaginal neoplasm, Prostate cancer, Weight...	ORPHA:2126
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Bradykinesia, Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Gait distu...	ORPHA:314632
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Fasciculations, Decreased fertility, Tremor, Elevated circulating creatine kinase concentration, ...	OMIM:313200
Premature Ovarian Failure 3	Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea	OMIM:608996
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Fasciculations, Pes cavus, Gait ataxia, Myoclonus, Tremor, Babinski sign, Abnormal py...	OMIM:607317
Spinocerebellar Ataxia 48	Mental deterioration, Depression, Chorea, Gait ataxia, Dysmetria, Tremor, Irritability, Babinski ...	OMIM:618093
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo...	OMIM:308750
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Frequent falls, Difficulty walking, Myoclonus, Tremor, Elevated circulatin...	OMIM:159950
Ovarian Fibrothecoma	Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O...	ORPHA:314478
Manganese Poisoning	Depression, Memory impairment, Decreased male libido, Bradykinesia, Confusion, Inappropriate laug...	ORPHA:306682
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Depression, Elevated circulating phytanic acid concentration, Abnormality of the live...	OMIM:614307
Dystonia 28, Childhood-Onset	Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston...	OMIM:617284
Narcolepsy Type 1	Precocious puberty, Male sexual dysfunction, Female sexual dysfunction, Obesity, Restless legs, A...	ORPHA:2073
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu...	ORPHA:1972
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami...	OMIM:308700
Segawa Syndrome, Autosomal Recessive	Myoclonus, Gait ataxia, Limb dystonia, Tremor, Rigidity, Abnormality of extrapyramidal motor func...	OMIM:605407
Leydig Cell Hypoplasia	Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema...	ORPHA:755
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development	Depression, Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable r...	OMIM:620482
Coenzyme Q10 Deficiency, Primary, 9	Oppositional defiant disorder, Myoclonus, Dysmetria, Tremor, Short attention span, Impaired tande...	OMIM:619028
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co...	ORPHA:3453
Classic Galactosemia	Mental deterioration, Incoordination, Speech apraxia, Action tremor, Decreased fertility in femal...	ORPHA:79239
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Type I diabetes mellitus, Hypertension, Cryptorchidism	ORPHA:1192
Lipodystrophy, Familial Partial, Type 1	Hypertension, Insulin-resistant diabetes mellitus	OMIM:608600
Cortisone Reductase Deficiency 1	Precocious puberty, Infertility, Obesity, Oligomenorrhea	OMIM:604931
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Loss of glu...	ORPHA:435651
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc...	ORPHA:206484
Juvenile Huntington Disease	Broad-based gait, Depression, Bradykinesia, Chorea, Gait ataxia, Myoclonus, Rigidity, Irritabilit...	ORPHA:248111
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Poor motor coordination, Spasticity, Tetraparesis, Progressive psychomotor de...	ORPHA:363400
Liddle Syndrome	Arrhythmia, Cerebral ischemia, Hypertension	ORPHA:526
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Mental deterioration, Neuromuscular dysphagia, Falls, Depression, Memory impairment, Bradykinesia...	ORPHA:240085
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro...	ORPHA:464440
Progressive Supranuclear Palsy-Corticobasal Syndrome	Hand clenching, Involuntary movements, Mental deterioration, Memory impairment, Limb myoclonus, P...	ORPHA:240103
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Decreased response to growth hormone stimulation test, Decreased testicul...	ORPHA:280679
Phenylketonuria	Depression, Short attention span, Tremor, Lower limb spasticity, Hyperphenylalaninemia, Ataxia, D...	ORPHA:716
Parkinson Disease 22, Autosomal Dominant	Depression, Resting tremor, Restless legs, Rigidity, Parkinsonism with favorable response to dopa...	OMIM:616710
Iga Nephropathy, Susceptibility To, 1	Hypertension	OMIM:161950
Neurodegeneration With Brain Iron Accumulation 7	Pes cavus, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Increased circul...	OMIM:617916
Intellectual Developmental Disorder, X-Linked 111	Phonic tics, Spasticity, Cerebral palsy, Aggressive behavior, Hyperactivity, Unsteady gait, Compu...	OMIM:301107
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Mental deterioration, Chorea, Limb ataxia, Gait ataxia, Pes cavus, Tremor, Eleva...	OMIM:208920
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Memory impairment, Abnormality of the liver, Tremor, Biliary tract a...	ORPHA:79234
Spastic Paraparesis And Deafness	Hypogonadism, Spastic paraparesis, Tremor	OMIM:312910
Parkinson Disease 15, Autosomal Recessive Early-Onset	Bradykinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Babinski sign, Scis...	OMIM:260300
Parkinson Disease 14, Autosomal Recessive	Mental deterioration, Spasticity, Resting tremor, Axial dystonia, Hemiparesis, Loss of ambulation...	OMIM:612953
Corticobasal Syndrome	Involuntary movements, Memory impairment, Limb myoclonus, Progressive extrapyramidal muscular rig...	ORPHA:454887
Post-Traumatic Pituitary Deficiency	Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease...	ORPHA:95619
Hypermanganesemia With Dystonia 2	Spasticity, Limb dystonia, Opisthotonus, Parkinsonism, Bradykinesia, Tip-toe gait, Inability to w...	OMIM:617013
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Spinocerebellar Ataxia 12	Depression, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dementia, Dysdia...	OMIM:604326
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus	OMIM:616921
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Premature ovarian insufficiency, Hypoplasia of the ovary	OMIM:609993
Spinocerebellar Ataxia Type 14	Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Abnormality of the Achilles tendon, Cognit...	ORPHA:98763
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Epilepsy, Progressive Myoclonic 7	Mental deterioration, Myoclonus, Tremor, Ataxia	OMIM:616187
Methanol Poisoning	Type I diabetes mellitus, Inflammatory arteriopathy, Permanent atrial fibrillation, Type II diabe...	ORPHA:31825
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus	ORPHA:494526
Polycystic Kidney Disease 5	Hypertension	OMIM:617610
Alopecia Universalis	Type I diabetes mellitus, Abnormality of the thyroid gland, Hypertension	ORPHA:701
Glycine Encephalopathy 1	Myoclonus, Hyperglycinemia, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impul...	OMIM:605899
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension	OMIM:615378
Spinocerebellar Ataxia Type 27	Depression, Memory impairment, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxi...	ORPHA:98764
Spinocerebellar Ataxia Type 38	Difficulty walking, Gait ataxia, Tremor	ORPHA:423296
Abdominal Obesity-Metabolic Syndrome 4	Type II diabetes mellitus, Hypertension, Myocardial infarction	OMIM:618620
Familial Cervical Artery Dissection	Transient ischemic attack, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent cerebral hemorrh...	ORPHA:36382
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Ectopic Aldosterone-Producing Tumor	Epistaxis, Decreased circulating renin level, Ovarian neoplasm, Hypertension, Glucocortocoid-inse...	ORPHA:231632
Stxbp1-Related Encephalopathy	Spasticity, Inability to walk, Tremor, Hyperactivity, Ataxia, Dystonia, Spastic tetraplegia	ORPHA:599373
Spastic Ataxia 2, Autosomal Recessive	Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, B...	OMIM:611302
Perrault Syndrome 2	Amenorrhea, Streak ovary	OMIM:614926
Lopes-Maciel-Rodan Syndrome	Spasticity, Small hand, Bradykinesia, Bruxism, Tremor, Ankle clonus, Abnormal pyramidal sign, Dys...	OMIM:617435
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ...	ORPHA:263458
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Clumsiness...	ORPHA:100973
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia, Pedal edema, Intestinal lymphangiectasia	OMIM:152800
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Mental deterioration, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Abnormal pyr...	OMIM:617145
Spinocerebellar Ataxia Type 31	Spasticity, Gait ataxia, Tremor	ORPHA:217012
Immunodeficiency 43	Hypoalbuminemia, Reduced natural killer cell count, Radial bowing, Decreased circulating beta-2-m...	OMIM:241600
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se...	ORPHA:2232
Rapid-Onset Dystonia-Parkinsonism	Depression, Resting tremor, Limb dystonia, Gait ataxia, Emotional lability, Craniofacial dystonia...	ORPHA:71517
46,Xy Sex Reversal 1	Elevated circulating luteinizing hormone level, Abnormal male external genitalia morphology, Gona...	OMIM:400044
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hypotension, Con...	ORPHA:90791
Atypical Rett Syndrome	Restrictive behavior, Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Sma...	ORPHA:3095
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Postprandial hyperglycemia, Clitoral hypertrophy, Long penis, Insulin-resista...	OMIM:262190
Kennedy Disease	Testicular atrophy, Decreased fertility, Type II diabetes mellitus, Erectile dysfunction	ORPHA:481
Delayed Puberty, Self-Limited	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre...	OMIM:619613
Developmental And Epileptic Encephalopathy 97	Inability to walk, Tremor, Stereotypical hand wringing	OMIM:619561
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Acheiropody	Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas...	OMIM:200500
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
46,Xy Sex Reversal 3	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Ambiguo...	OMIM:612965
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Partial Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Increased serum estradiol, ...	ORPHA:90797
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Tremor, Irritab...	ORPHA:3077
Coffin-Siris Syndrome 8	Self-injurious behavior, Failure to thrive, Inguinal hernia, Cryptorchidism, Aggressive behavior,...	OMIM:618362
Grange Syndrome	Aortic regurgitation, Hypertension	ORPHA:79094
Spastic Paraplegia 78, Autosomal Recessive	Spastic paraplegia, Mental deterioration, Falls, Resting tremor, Pes cavus, Gait ataxia, Aggressi...	OMIM:617225
Temple Syndrome	Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test...	ORPHA:254516
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Premature adrenarche, Precocious puberty, Elevated circulating 17-hydroxyprogesterone concentrati...	ORPHA:90795
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f...	ORPHA:91348
Seckel Syndrome 7	Hypoplasia of the uterus, Central hypothyroidism, Primary amenorrhea	OMIM:614851
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Paroxysmal Hemicrania	Hypertension, Diabetes mellitus	ORPHA:157835
Mody	Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-...	ORPHA:552
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Hip subluxation, Short tibia, Camptodactyl...	ORPHA:356961
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Reduced circulating growt...	OMIM:300845
Neurodegeneration With Brain Iron Accumulation 4	Mental deterioration, Spasticity, Depression, Generalized dystonia, Pes cavus, Emotional lability...	OMIM:614298
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Coproporphyria, Hereditary	Tachycardia, Hypertension	OMIM:121300
Spinocerebellar Ataxia, Autosomal Recessive 30	Dysmetria, Tremor, Elevated circulating creatine kinase concentration, Ataxia, Compulsive behavio...	OMIM:619405
Hyperphenylalaninemia, Bh4-Deficient, A	Bradykinesia, Tremor, Rigidity, Irritability, Parkinsonism, Limb hypertonia, Hyperphenylalaninemi...	OMIM:261640
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
Hsd10 Mitochondrial Disease	Spasticity, Spastic tetraplegia, Hypoglycemia, Aggressive behavior, Elevated circulating tiglylgl...	OMIM:300438
Fragile X Tremor/Ataxia Syndrome	Mental deterioration, Depression, Dysdiadochokinesis, Resting tremor, Memory impairment, Postural...	OMIM:300623
Peripartum Cardiomyopathy	Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti...	ORPHA:563
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries	ORPHA:1643
Inverted Duplicated Chromosome 15 Syndrome	Precocious puberty, Gonadal dysgenesis, Hypogonadism, Cryptorchidism, Hernia, Aggressive behavior...	ORPHA:3306
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Cryptorchidism, Gon...	OMIM:194072
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Dec...	OMIM:620651
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis, Motor stereotypy	OMIM:619470
Donohue Syndrome	Precocious puberty, Postprandial hyperglycemia, Clitoral hypertrophy, Long penis, Hyperglycemia, ...	OMIM:246200
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Intention tremor, Abno...	ORPHA:101110
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T...	OMIM:614662
Lipodystrophy, Familial Partial, Type 6	Hypertension, Diabetes mellitus	OMIM:615980
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation	OMIM:619651
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Aggressive ...	OMIM:612736
Preeclampsia	Elevated systolic blood pressure, Type I diabetes mellitus, Elevated diastolic blood pressure, Po...	ORPHA:275555
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Difficulty walking, Pes cavus, Tremor, Vocal cord paralysis	OMIM:158580
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Spasticity, Dementia, Chorea, Myoclonus, Tremor, Dysmetria, Clumsiness, Cognitive impairm...	ORPHA:79263
Morgagni-Stewart-Morel Syndrome	Abnormality of the thyroid gland, Hypothyroidism, Abnormality of the endocrine system, Hypertensi...	ORPHA:77296
Moyamoya Disease 6 With Or Without Achalasia	Ischemic stroke, Hypertension, Raynaud phenomenon	OMIM:615750
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly	OMIM:246570
Apparent Mineralocorticoid Excess	Decreased circulating aldosterone level, Hypertension, Abnormality of circulating cortisol level,...	ORPHA:320
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Spinocerebellar Ataxia 7	Mental deterioration, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor ...	OMIM:164500
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio...	OMIM:171420
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Mental deterioration, Falls, Inappropriate behavior, Bradykinesia, Extrapyramidal ...	ORPHA:99750
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr...	ORPHA:98793
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Clinodactyly of the 5th finger, Hypoproteinemia	ORPHA:1116
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr...	ORPHA:98754
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Mental deterioration, Limb myoclonus, Frequent falls, Difficulty walking, Inability to walk, Myoc...	ORPHA:2590
Spinocerebellar Ataxia Type 37	Falls, Limb dysmetria, Myoclonus, Tremor, Cogwheel rigidity, Gait disturbance, Truncal ataxia, Dy...	ORPHA:363710
Stiff Skin Syndrome	Type II diabetes mellitus, Hypertension	ORPHA:2833
Hypogonadism, Male	Testicular atrophy, Hypospadias, Male hypogonadism, Micropenis	OMIM:241100
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Aceruloplasminemia	Parkinsonism, Cognitive impairment, Torticollis, Ataxia, Decreased circulating ceruloplasmin conc...	ORPHA:48818
Hyperprolinemia, Type I	Hyperprolinemia, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy	OMIM:239500
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Small hand, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ataxia, Truncal...	OMIM:610185
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr...	ORPHA:177904
Urocanase Deficiency	Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Truncal ataxia	OMIM:276880
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,...	ORPHA:983
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr...	ORPHA:177901
Hartnup Disorder	Episodic ataxia, Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Hyp...	OMIM:234500
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Primary Membranoproliferative Glomerulonephritis	Hypertension, Myocardial infarction	ORPHA:54370
Oocyte/Zygote/Embryo Maturation Arrest 8	Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level	OMIM:619009
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia	OMIM:207731
Phosphoribosylpyrophosphate Synthetase Superactivity	Arrhythmia, Hypertension, Cardiomyopathy	ORPHA:3222
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Mental deterioration, Spasticity, Pes cavus, Tremor, Babinski sign, Steppage gait, Hypertonia, Ha...	OMIM:609260
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
Pituicytoma	Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ...	ORPHA:251623
Spinocerebellar Ataxia 38	Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia	OMIM:615957
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Shuffling gait, Spastic tetraplegia, Small hand, Resting tremor, Male hypogon...	OMIM:300055
X-Linked Charcot-Marie-Tooth Disease Type 3	Spastic paraparesis, Equinovarus deformity, Abnormal foot morphology, Difficulty walking, Inabili...	ORPHA:101077
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Tremor, Pancreatic islet-cell ...	ORPHA:276608
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De...	OMIM:614839
Sim1-Related Prader-Willi-Like Syndrome	Premature adrenarche, Small scrotum, Xerostomia, Absence of pubertal development, Type II diabete...	ORPHA:398079
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina...	ORPHA:189427
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab...	ORPHA:439232
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ...	OMIM:614736
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Difficulty walking, Chorea, Leukocytosis, Splenomegaly, Tremo...	OMIM:615673
Aicardi-Goutieres Syndrome 6	Splenomegaly, Tremor, Rigidity, Loss of ambulation, Irritability, Thrombocytopenia, Hepatomegaly,...	OMIM:615010
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Cerebral hemorrhage, Lacunar strok...	ORPHA:136
Amed Syndrome, Digenic	Attention deficit hyperactivity disorder, Hypoplasia of the uterus, Adrenal hypoplasia, Failure t...	OMIM:619151
Huntington Disease-Like 2	Depression, Memory impairment, Bradykinesia, Chorea, Action tremor, Rigidity, Irritability, Demen...	OMIM:606438
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes...	OMIM:278850
Landau-Kleffner Syndrome	Depression, Memory impairment, Speech apraxia, Gait ataxia, Emotional lability, Short attention s...	ORPHA:98818
Intellectual Developmental Disorder, X-Linked 104	Spasticity, Tremor, Aggressive behavior, Hyperactivity, Ataxia	OMIM:300983
Adrenal Hypoplasia, Congenital	Precocious puberty, Failure to thrive, Absence of pubertal development, Adrenal insufficiency, Pr...	OMIM:300200
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Hypopituitarism, Ischemic stroke, Cerebral ischemia, ST segm...	ORPHA:90065
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Inguinal hernia, Elevated circulating follicle st...	OMIM:300068
Temple Syndrome	Precocious puberty, Maturity-onset diabetes of the young, Decreased testicular size, Obesity, Cry...	OMIM:616222
Guanidinoacetate Methyltransferase Deficiency	Self-injurious behavior, Progressive extrapyramidal movement disorder, Chorea, Abnormality of ext...	ORPHA:382
Sneddon Syndrome	Intracranial hemorrhage, Hypertension	ORPHA:820
Chédiak-Higashi Syndrome	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Parkinsonism, Cognitive impairment, Neutropen...	ORPHA:167
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Gait ataxia, Dysmetria, Tremor, Rigidity, Gait disturbance, Hyperactivity	OMIM:618090
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Incoordination, Paraparesis, Cognitive impairment, Gait apra...	OMIM:615157
Senior-Loken Syndrome	Hypertension	ORPHA:3156
Hemiparkinsonism-Hemiatrophy Syndrome	Depression, Bradykinesia, Difficulty walking, Hemiatrophy, Tremor, Hemiparesis, Parkinsonism, Dys...	ORPHA:306669
Combined Oxidative Phosphorylation Deficiency 34	Failure to thrive, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, ...	OMIM:617872
Nelson Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca...	ORPHA:199244
Generalized Epilepsy With Febrile Seizures-Plus	Tibial torsion, Incoordination, Talipes valgus, Obsessive-compulsive trait, Tremor, Pes planus, L...	ORPHA:36387
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Progressive Supranuclear Palsy	Blepharospasm, Depression, Falls, Memory impairment, Bradykinesia, Emotional lability, Tremor, Ri...	ORPHA:683
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Neonatal Hemochromatosis	Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat...	ORPHA:446
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Neuroferritinopathy	Blepharospasm, Arm dystonia, Involuntary movements, Resting tremor, Bradykinesia, Difficulty walk...	ORPHA:157846
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Shuffling gait, Fasciculations, Tremor, Elevated circulating creatine kinase concentration, Loss ...	ORPHA:209335
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Myoclonic-Atonic Epilepsy	Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia	OMIM:616421
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Cryptorchidism, Hypothyroidism, Del...	ORPHA:95496
Familial Glucocorticoid Deficiency	Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration...	ORPHA:361
Riboflavin Transporter Deficiency	Hypogonadism, Diabetes insipidus, Hypertension	ORPHA:97229
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities	Talipes equinovalgus, Chorea, Gait ataxia, Self-mutilation, Lower limb spasticity, Hyperactivity,...	OMIM:620445
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Leg muscle stiffness, Bradykinesia, Dementia, Akinesia, Myoclonus...	OMIM:606693
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De...	ORPHA:95699
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Hypoglycemia, Hypocalcemia, Short humerus, Short ribs, Talip...	OMIM:607143
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Thrombocytosis, Hep...	OMIM:226300
Parkinsonism-Dystonia 3, Childhood-Onset	Depression, Chorea, Action tremor, Tremor, Hyperkinetic movements, Aggressive behavior, Parkinson...	OMIM:619738
Spinocerebellar Ataxia With Epilepsy	Depression, Gait ataxia, Myoclonus, Dysmetria, Tremor, Hyperalaninemia, Progressive neurologic de...	ORPHA:254881
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Polycysti...	ORPHA:79083
Silver-Russell Syndrome Due To A Point Mutation	Hypoglycemia, Microphallus, Bifid scrotum, Abnormal scrotum morphology, Cryptorchidism, Inguinal ...	ORPHA:397590
Spinocerebellar Ataxia 18	Pes cavus, Dysmetria, Tremor, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis	OMIM:607458
Spermatogenic Failure, X-Linked, 2	Testicular atrophy, Azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:309120
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Attention deficit hyperactivity disorder, Hyperch...	OMIM:620211
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Dysmetria, Tremor, Babinski sign, Ataxia	OMIM:612437
Von Hippel-Lindau Disease	Elevated circulating catecholamine level, Cardiomyopathy, Palpitations, Neoplasm of the pancreas,...	ORPHA:892
Classic Phenylketonuria	Self-injurious behavior, Mental deterioration, Depression, Memory impairment, Hemiplegia, Paraple...	ORPHA:79254
Galactokinase Deficiency	Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Premature ovarian insuff...	ORPHA:79237
Acrofacial Dysostosis Syndrome Of Rodriguez	Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular...	OMIM:201170
Spinocerebellar Ataxia 42	Depression, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Cognitive impairment,...	OMIM:616795
Amyloidosis, Hereditary Systemic 2	Hypertension	OMIM:105200
Proximal Myopathy With Extrapyramidal Signs	Progressive extrapyramidal movement disorder, Involuntary movements, Resting tremor, Progressive ...	ORPHA:401768
Parkinson Disease 6, Autosomal Recessive Early-Onset	Depression, Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dementia, Dystonia	OMIM:605909
Late-Infantile/Juvenile Krabbe Disease	Mental deterioration, Neuromuscular dysphagia, Spastic paraparesis, Difficulty walking, Hemiplegi...	ORPHA:206443
Pseudohypoaldosteronism Type 2	Hypertension	ORPHA:757
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity	ORPHA:217377
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Sinus tachycardia, Congestive heart failure, Positive regitine bl...	ORPHA:94080
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Bradykinesia, Dementia, Postural tremor, Gai...	OMIM:600116
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Mental deterioration, Depression...	ORPHA:79095
Polyembryoma	Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio...	ORPHA:180229
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo...	OMIM:301101
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Spasticity, Limb ataxia, Gait ataxia, Splenomegaly, ...	OMIM:616719
Satoyoshi Syndrome	Amenorrhea, Hypoplasia of the uterus	OMIM:600705
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h...	OMIM:202150
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Micropenis, Decreased circulating...	OMIM:619761
Hsd10 Disease	Spastic paraparesis, Myoclonus, Short attention span, Tremor, Rigidity, Gait disturbance, Ataxia,...	ORPHA:391417
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Cryptorchi...	ORPHA:398069
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi...	ORPHA:91349
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Spasticity, Inability to walk, Chorea, Gait ataxia, Abnormality of extrapyramidal motor function,...	ORPHA:500180
Stiff-Person Syndrome	Tachycardia, Hypertension, Diabetes mellitus	OMIM:184850
Denys-Drash Syndrome	Hypertension	ORPHA:220
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Hyperkinetic movements, Irritability, Limb hypertonia, Hyperphenylalaninemia, P...	OMIM:233910
Developmental And Epileptic Encephalopathy 43	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia	OMIM:617113
Lennox-Gastaut Syndrome	Mental deterioration, Falls, Myoclonus, Irritability, Aggressive behavior, Hyperactivity	ORPHA:2382
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Cellulitis, Dysmenorrhea, Polycystic ovaries, Lipodystrophy, Pancreatitis, Lo...	ORPHA:2348
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension	OMIM:616069
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Weight loss, Neonatal hypoglycem...	ORPHA:90794
Morm Syndrome	Micropenis, Aggressive behavior, Hyperactivity, Truncal obesity	ORPHA:75858
Precocious Puberty, Male-Limited	Decreased testicular size, Precocious puberty in males	OMIM:176410
Precocious Puberty, Central, 2	Premature thelarche, Premature pubarche	OMIM:615346
2P21 Microdeletion Syndrome	Hypogonadism, Failure to thrive, Hypoglycemia	ORPHA:163693
Neurodegeneration With Brain Iron Accumulation 8	Dysmetria, Tremor, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Trisomy X	Precocious puberty, Premature ovarian insufficiency, Attention deficit hyperactivity disorder, Se...	ORPHA:3375
8p23.1 deletion syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Hyperactivity	DECIPHER:39
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res...	ORPHA:91354
Erythrocytosis, Familial, 1	Hypertension, Myocardial infarction, Cerebral hemorrhage	OMIM:133100
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea	OMIM:184700
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Leptospirosis	Hepatitis, Lymphadenopathy, Thrombocytopenia, Anorexia, Hepatomegaly, Jaundice, Hyperproteinemia	ORPHA:509
Focal Segmental Glomerulosclerosis 1	Hypertension	OMIM:603278
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Secondary amenorrhea, Premature pubarche	OMIM:612847
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypertension, Congestive heart failure	ORPHA:1349
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Decreased circulating renin level, Pulmonary arterial hyper...	OMIM:615474
Tako-Tsubo Cardiomyopathy	Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral...	ORPHA:66529
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ...	ORPHA:1772
Prader-Willi Syndrome	Premature adrenarche, Small scrotum, Xerostomia, Central adrenal insufficiency, Cryptorchidism, P...	ORPHA:739
Pituitary Apoplexy	Hypotension, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prola...	ORPHA:95613
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Impulsivity, Attention deficit hyperactivity disorder, M...	ORPHA:8
Acromesomelic Dysplasia 3	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:609441
Adult-Onset Distal Myopathy Due To Vcp Mutation	Progressive neurologic deterioration, Depression, Fasciculations, Difficulty walking, Tremor, Par...	ORPHA:329478
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro...	OMIM:603554
Carney Triad	Gastrointestinal hemorrhage, Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Arrh...	ORPHA:139411
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Mental deterioration, Neuromuscular dysphagia, Falls, Progressive extrapyramidal m...	ORPHA:240071
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Stuve-Wiedemann Syndrome 1	Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti...	OMIM:601559
Abdominal Obesity-Metabolic Syndrome 3	Type II diabetes mellitus, Hypertension, Myocardial infarction	OMIM:615812
Idiopathic Non-Lupus Full-House Nephropathy	Hypertension	ORPHA:567544
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension	OMIM:600666
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Peritoneal effusion, Intestinal lymphangiectasia, Hypomagnesemia, Lymphopenia, H...	ORPHA:90362
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Shuffling gait, Involuntary movements, Resting tremor, Leg muscle s...	ORPHA:391411
Ataxia With Vitamin E Deficiency	Mental deterioration, Pes cavus, Dysmetria, Tremor, Hemiplegia/hemiparesis, Gait disturbance, Abn...	ORPHA:96
Pediatric-Onset Graves Disease	Graves disease, Sinus tachycardia, Congestive heart failure, Goiter, Puberty and gonadal disorder...	ORPHA:525731
Extracranial Carotid Artery Aneurysm	Vasculitis, Arteritis, Cerebral ischemia, Subarachnoid hemorrhage, Hypertension, Diabetes mellitus	ORPHA:494424
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia	ORPHA:2795
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Dystonia, Myoclonus, Tremor, Frequent falls	OMIM:619647
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Self-injurious behavior, Spasticity, Inability to walk, Bruxism, Tremor, Motor stereotypy, Hypera...	OMIM:618718
Pheochromocytoma/Paraganglioma Syndrome 4	Chemodectoma, Palpitations, Hypertension associated with pheochromocytoma, Adrenal pheochromocyto...	OMIM:115310
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Head tremor, Postural tremor, Gait imbalance, Elevated circulating creatine kina...	ORPHA:64753
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Polycythemia, Bradykinesia, Increased total iron binding capacity, Tremor, R...	OMIM:613280
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen...	OMIM:620306
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia, Anorexia	ORPHA:2494
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Hand tremor, Frequent falls, Difficulty walking, Incoordination, Absent Achilles re...	OMIM:302800
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,...	OMIM:110100
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Pes cavus, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait	OMIM:600363
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Sneddon Syndrome	Ischemic stroke, Hypertension, Cerebral hemorrhage	OMIM:182410
Young-Onset Parkinson Disease	Spasticity, Depression, Male sexual dysfunction, Female sexual dysfunction, Bradykinesia, Frontal...	ORPHA:2828
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Bradykinesia, Chorea, Cogwheel rigidity, Myoclonus, Attention deficit hyperactivi...	OMIM:619725
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Pulmonary arteri...	ORPHA:3287
Usmani-Riazuddin Syndrome, Autosomal Dominant	Self-injurious behavior, Spasticity, Depression, Short finger, 2-3 toe syndactyly, Aggressive beh...	OMIM:619467
Pituitary Gigantism	Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth...	ORPHA:99725
Inherited Creutzfeldt-Jakob Disease	Depression, Progressive extrapyramidal muscular rigidity, Confusion, Chorea, Gait ataxia, Spastic...	ORPHA:282166
Urocanic Aciduria	Broad-based gait, Gait ataxia, Action tremor, Ataxia, Abnormal circulating histidine concentratio...	ORPHA:210128
Leukoencephalopathy With Calcifications And Cysts	Mental deterioration, Spasticity, Emotional lability, Tremor, Gait disturbance, Abnormal pyramida...	ORPHA:542310
Beta-Propeller Protein-Associated Neurodegeneration	Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Aggressive behavior, Parkinsonism, Dementia,...	ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Limb ataxia, Gait ataxia, Pes cavus, Dysmetria, Tremor, Ataxia, Unste...	OMIM:213200
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Pancreatic lymphangiectasis, Micrognathia, Splenomegaly, Hypocalcemia, Thyroid lymphangiectasia, ...	OMIM:235255
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:617960
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero...	ORPHA:325124
Gerstmann-Straussler Disease	Spasticity, Depression, Memory impairment, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity,...	OMIM:137440
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ...	ORPHA:572333
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Hemochromatosis, Type 1	Impotence, Azoospermia, Glucose intolerance, Hypogonadotropic hypogonadism, Amenorrhea, Testicula...	OMIM:235200
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Hypocalcemia, Hyperammonem...	ORPHA:26793
Ochoa Syndrome	Hypertension, Cryptorchidism	ORPHA:2704
Mohr-Tranebjaerg Syndrome	Mental deterioration, Shuffling gait, Generalized dystonia, Dementia, Inability to walk, Tremor, ...	ORPHA:52368
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Labial pseudohyper...	OMIM:151660
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
X-Linked Cerebral Adrenoleukodystrophy	Mental deterioration, Difficulty walking, Hemiparesis, Ataxia, Spastic tetraparesis, Dysphagia, M...	ORPHA:139396
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Depression, Abnormal circulating biopterin concentration, Tremor, ...	OMIM:612716
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hypogonadism, Decreased testicular size, Cryptorchidism, Aggressive behavior, Delayed puberty, Hy...	OMIM:300354
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Brain Dopamine-Serotonin Vesicular Transport Disease	Shuffling gait, Oculogyric crisis, Spastic tetraparesis, Abnormal foot morphology, Abnormality of...	ORPHA:352649
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro...	OMIM:154230
X-Linked Adrenoleukodystrophy	Leg muscle stiffness, Progressive spastic paraparesis, Incoordination, Dementia, Disinhibition, H...	ORPHA:43
Systemic Lupus Erythematosus 17	Raynaud phenomenon, Hypertensive crisis, Mitral regurgitation	OMIM:301080
Nephronophthisis 18	Hypertension	OMIM:615862
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H...	ORPHA:752
Phenylketonuria	Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d...	OMIM:261600
4H Leukodystrophy	Mental deterioration, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressiv...	ORPHA:289494
Global Developmental Delay With Speech And Behavioral Abnormalities	Precocious puberty, Supernumerary nipple, Inguinal hernia, Cryptorchidism, Attention deficit hype...	OMIM:619243
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m...	ORPHA:3411
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Lymphadenitis, Cholestasis, Leukocytosis, Splenomegaly, Elevated circulating cr...	OMIM:615895
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis	ORPHA:1646
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Postorgasmic Illness Syndrome	Palpitations, Hypertension	ORPHA:279947
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor...	ORPHA:289548
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spinocerebellar Ataxia 50	Memory impairment, Postural tremor, Head tremor, Chorea, Action tremor, Myoclonus, Apraxia, Ataxia	OMIM:620158
Dystonia 28	Precocious puberty, Attention deficit hyperactivity disorder, Hypothyroidism, Dysphagia	ORPHA:589618
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han...	OMIM:258860
Autosomal Spastic Paraplegia Type 58	Erratic myoclonus, Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia,...	ORPHA:397946
Polyarteritis Nodosa	Hypertension, Raynaud phenomenon, Cardiomyopathy, Pericarditis	ORPHA:767
Coenzyme Q10 Deficiency, Primary, 8	Hypertension	OMIM:616733
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young	ORPHA:254531
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Behr Syndrome	Frequent falls, Dysmetria, Tremor, Babinski sign, Gait disturbance, Achilles tendon contracture, ...	OMIM:210000
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hypertension, Mitral regurgitation	OMIM:173900
Optic Atrophy 11	Stereotypical body rocking, Splenomegaly, Dysmetria, Hyperkinetic movements, Attention deficit hy...	OMIM:617302
X-Linked Charcot-Marie-Tooth Disease Type 1	Pes cavus, Gait disturbance, Tremor, Ataxia	ORPHA:101075
Multiple System Atrophy, Cerebellar Type	Broad-based gait, Neuromuscular dysphagia, Depression, Resting tremor, Postural tremor, Limb atax...	ORPHA:227510
Pelizaeus-Merzbacher Disease	Ataxia, Spastic paraplegia, Broad-based gait, Mental deterioration, Depression, Generalized dysto...	OMIM:312080
Ovarian Dysgenesis 8	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Hyp...	OMIM:618187
Congenital Disorder Of Glycosylation, Type Ie	Ankle flexion contracture, Small hand, Upper limb undergrowth, Micrognathia, Splenomegaly, Tremor...	OMIM:608799
Spermatogenic Failure 63	Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Tetraamelia Syndrome 1	Absent external genitalia, Congenital diaphragmatic hernia, Adrenal gland agenesis, Vaginal atres...	OMIM:273395
Silver-Russell Syndrome	Premature adrenarche, Insulin resistance, Precocious puberty, Abnormal male external genitalia mo...	ORPHA:813
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Failure to thrive, Hypoglycemia, Hypogonadism, Attention deficit hyperactivit...	ORPHA:73272
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Hyperglycemia, Decreased libido, Hypogonadotropic hyp...	ORPHA:465508
Perry Syndrome	Short stepped shuffling gait, Depression, Inappropriate behavior, Bradykinesia, Akinesia, Tremor,...	OMIM:168605
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619528
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Arteriosclerosis, Severe Juvenile	Delayed puberty, Hypertension, Myocardial infarction	OMIM:208060
Aromatase Deficiency	Insulin resistance, Female infertility, Male infertility, Ambiguous genitalia, female, Obesity, H...	ORPHA:91
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Precocious puberty, Aggressive behavior, Hyperactivity	ORPHA:457260
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Progressive psychomotor deterioration, Gait ataxia, Dysmetri...	ORPHA:1170
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Neurodegeneration With Brain Iron Accumulation 5	Mental deterioration, Spastic paraparesis, Bradykinesia, Akinesia, Tremor, Rigidity, Aggressive b...	OMIM:300894
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Pancreatic lymphangiectasis, Hepatosplenomegaly, Micrognathia, Splenomegaly, Hypocalcemia, Pulmon...	ORPHA:1655
Neuroblastoma	Elevated circulating catecholamine level, Hypertension	ORPHA:635
46,Xy Sex Reversal 5	Abnormal female external genitalia morphology, Abnormality of circulating cortisol level, Abnorma...	OMIM:613080
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr...	OMIM:305400
Coach Syndrome 2	Hypertension	OMIM:619111
Maternal Uniparental Disomy Of Chromosome 6	Congenital adrenal hyperplasia, Hydrocele testis, Increased serum testosterone level	ORPHA:96181
Pyruvate Carboxylase Deficiency	Hypoglycemia, Increased serum pyruvate, Hyperalaninemia, Clonus, Hepatomegaly, Athetosis	OMIM:266150
Non-Specific Early-Onset Epileptic Encephalopathy	Mental deterioration, Spasticity, Involuntary movements, Difficulty walking, Abnormality of coord...	ORPHA:442835
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Depression, Generalized dystonia, Inability to walk, Absent Achilles reflex, Tremo...	OMIM:128100
Dengue Fever	Hepatomegaly, Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
X-Linked Dystonia-Parkinsonism	Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Torsion dystonia, Difficulty walking,...	ORPHA:53351
Familial Cerebral Saccular Aneurysm	Subarachnoid hemorrhage, Transient ischemic attack, Hypertension, Intracranial hemorrhage	ORPHA:231160
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Oculopharyngodistal Myopathy 3	Elevated circulating creatine kinase concentration, Dysphagia, Tremor, Ataxia	OMIM:619473
Acquired Generalized Lipodystrophy	Cardiomyopathy, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Abnormal cardiovascular sy...	ORPHA:79086
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Clinodactyly, Pes cavus, Gait ataxia, Myoclonus, Tremor, Arachnodactyly, Hypertonia, Ataxia, Moto...	OMIM:619092
Spermatogenic Failure 30	Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility	OMIM:618110
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Tay-Sachs Disease	Incoordination, Mania, Dysphagia, Poor fine motor coordination, Depression, Memory impairment, In...	ORPHA:845
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr...	ORPHA:99657
Spinocerebellar Ataxia 23	Limb ataxia, Gait ataxia, Dysmetria, Tremor, Babinski sign	OMIM:610245
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Myoclonus, Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Dystonia, Progressive cere...	ORPHA:139485
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Neuronal Intranuclear Inclusion Disease	Tremor, Rigidity, Gait disturbance, Cognitive impairment, Ataxia, Dementia	OMIM:603472
Microphthalmia With Limb Anomalies	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ...	ORPHA:1106
Prader-Willi Syndrome	Small scrotum, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Polyphagia, Primary a...	OMIM:176270
Aromatase Deficiency	Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:613546
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Maturity-onset diabetes of the young, Obesity, Cryptorchidism, Hypercholester...	ORPHA:96184
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ...	OMIM:201750
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Sinus tachycardia, Congestive heart failure, Positive regitine bl...	ORPHA:276621
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension	OMIM:166300
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio...	OMIM:171300
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Precocious puberty, Aggressive behavior, Hyperactivity, Decreased body weight	OMIM:300958
48,Xxyy Syndrome	Depression, Abnormal shoulder morphology, Infertility, Azoospermia, Type II diabetes mellitus, Tr...	ORPHA:10
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Hyperlysinemia, Type I	Hypoornithinemia, Short attention span, Clumsiness, Hyperlysinemia, Hyperactivity, Cognitive impa...	OMIM:238700
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Decreased testicular size, Hypogo...	OMIM:616113
Parkinsonism-Dystonia 2, Infantile-Onset	Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia...	OMIM:618049
Charcot-Marie-Tooth Disease And Deafness	Talipes calcaneovalgus, Pes cavus, Tremor, Steppage gait, Gait disturbance, Split hand, Hammertoe	OMIM:118300
Septopreoptic Holoprosencephaly	Precocious puberty, Central diabetes insipidus, Dysphagia, Anterior hypopituitarism, Impulsivity	ORPHA:280195
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin...	ORPHA:91347
X-Linked Charcot-Marie-Tooth Disease Type 4	Pes cavus, Gait disturbance, Tremor, Ataxia	ORPHA:101078
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Dysphagia, Tremor, Ataxia	OMIM:618637
Johanson-Blizzard Syndrome	Exocrine pancreatic insufficiency, Anemia, Hypoproteinemia, Abnormality of the pancreas, Diabetes...	ORPHA:2315
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Hypertension	OMIM:618061
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Congenital diaphragmatic hernia, Omphalocele	OMIM:601163
Mccune-Albright Syndrome	Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu...	ORPHA:562
Peripheral Primitive Neuroectodermal Tumor	Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Metrorrhagia, Weight loss, Pancrea...	ORPHA:370348
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis...	OMIM:201810
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Tetraparesis, Inability to walk, Frequent falls, Chorea, Confusion, Gait atax...	OMIM:607483
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Mental deterioration, Leg muscle stiffness, Difficulty walking, Tremor, Loss of ambulation, Babin...	ORPHA:137898
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio...	OMIM:619827
Intellectual Developmental Disorder, Autosomal Recessive 38	Sandal gap, Recurrent hand flapping, Self-mutilation, Aggressive behavior, Diminished ability to ...	OMIM:615516
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Progressive neurologic deterioration, Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Hyp...	ORPHA:263455
Rhabdoid Tumor	Hypertension, Internal hemorrhage	ORPHA:69077
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Graves Disease	Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula...	OMIM:275000
Myopathy, Mitochondrial, And Ataxia	Depression, Difficulty walking, Inability to walk, Limb ataxia, Micrognathia, Pes cavus, Dysmetri...	OMIM:617675
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Fabry Disease	Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Delayed puberty...	OMIM:301500
Peroxisome Biogenesis Disorder 5B	Elevated circulating phytanic acid concentration, Pes cavus, Dysmetria, Tremor, Oculomotor apraxi...	OMIM:614867
Neurodegeneration With Brain Iron Accumulation 2B	Mental deterioration, Spasticity, Dysdiadochokinesis, Bradykinesia, Talipes calcaneovalgus, Chore...	OMIM:610217
Oculopharyngodistal Myopathy 4	Postural tremor, Dysphagia, Tremor, Elevated circulating creatine kinase concentration	OMIM:619790
Rabson-Mendenhall Syndrome	Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Clitoral hypertrophy, Long pe...	ORPHA:769
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Sinus tachycardia, Congestive heart failure, Positive regitine bl...	ORPHA:29072
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi...	OMIM:251230
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Shortened QT interval, Pituitary...	ORPHA:652
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Pedal edema, Increased al...	ORPHA:86816
Myotonic Dystrophy 1	Cholelithiasis, Hypogonadism, Obsessive-compulsive trait, Testicular atrophy, Dysphagia	OMIM:160900
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Azoospermia, Male infertility	OMIM:619145
Monosomy 18P	Hypothyroidism, Hypertension	ORPHA:1598
Pituitary Adenoma 4, Acth-Secreting	Increased circulating ACTH level, Hypertension, Pituitary adenoma	OMIM:219090
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt...	ORPHA:199310
Intellectual Developmental Disorder, Autosomal Dominant 45	Cerebral palsy, Chorea, Recurrent hand flapping, Myoclonus, Arachnodactyly, Attention deficit hyp...	OMIM:617600
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Hypertension	OMIM:613870
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypothyroidism, Hypertension	OMIM:617763
Spinocerebellar Ataxia 2	Spasticity, Bradykinesia, Fasciculations, Postural tremor, Limb ataxia, Myoclonus, Action tremor,...	OMIM:183090
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Postural tremor, Tremor, Dysmetria, Loss of ambulation, Babinski sign, Hypogonadotrop...	OMIM:607694
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Depression, Bradykinesia, Abnormal circ...	ORPHA:199351
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Acrodysostosis 2 With Or Without Hormone Resistance	Congenital hypothyroidism, Obesity, Cryptorchidism, Hyperactivity, Hypospadias, Diabetes mellitus	OMIM:614613
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Increased circulating dehydroepiandrosterone-sulfate concentration...	OMIM:158330
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met...	OMIM:268305
Choreoacanthocytosis	Mental deterioration, Resting tremor, Equinovarus deformity, Limb dystonia, Acanthocytosis, Emoti...	ORPHA:2388
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Bradykinesia, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hype...	OMIM:613135
Ataxia-Telangiectasia	Spasticity, Aplasia/Hypoplasia of the thymus, Lymphopenia, Type II diabetes mellitus, Tremor, Gai...	ORPHA:100
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Spermatogenic Failure 32	Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Non-obstructive azoospermia, Male infertility	OMIM:619831
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hyperplasia, Decre...	ORPHA:90790
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Maturity-onset diabetes of the young, Cerebral palsy, Hypomagnesemia, Abnormal...	ORPHA:1578
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Memory impairment, Dysdiadochokinesis, Limb ataxia, Gait at...	ORPHA:101
Juvenile Paget Disease	Hypertension	ORPHA:2801
Syngap1-Related Developmental And Epileptic Encephalopathy	Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Tremor, Postaxial ...	ORPHA:544254
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed...	OMIM:614324
Nephroblastoma	Hypertension	ORPHA:654
Cystathioninuria	Talipes equinovarus, Cystathioninemia, Tremor	ORPHA:212
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Aggressive behavior, Decreased serum insulin-like growth factor 1, Elevated circulating growth ho...	ORPHA:85327
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
C3 Glomerulopathy	Hypertension	ORPHA:329918
Orofaciodigital Syndrome Ix	Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia	OMIM:258865
Bent Bone Dysplasia Syndrome 2	Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing...	OMIM:620076
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Difficulty walking, Genu valgum, Metaph...	ORPHA:239
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Tremor, Dysmetria, Aggressive behavior, Limb hypertonia, Thrombocytopenia, Ataxia, ...	OMIM:617710
Parkinson Disease 20, Early-Onset	Short stepped shuffling gait, Shuffling gait, Involuntary movements, Mental deterioration, Leg mu...	OMIM:615530
Renal Cysts And Diabetes Syndrome	Hypospadias, Glycosuria, Maturity-onset diabetes of the young, Pancreatic hypoplasia, Exocrine pa...	OMIM:137920
Spinocerebellar Ataxia, Autosomal Recessive 13	Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dysdiadochoki...	OMIM:614831
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Failure to thrive, Increased circulating cortico...	OMIM:610600
Hemochromatosis, Neonatal	Hepatic fibrosis, Increased circulating iron concentration, Hypoglycemia, Hepatocellular necrosis...	OMIM:231100
Late-Onset Familial Hypoaldosteronism	Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abno...	ORPHA:556037
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia	OMIM:617836
Prolactinoma	Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon...	ORPHA:2965
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypoglycemia, Umbilical hernia, Hypopituitarism, Decreased circulati...	ORPHA:226307
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abno...	ORPHA:556030
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Clitoral hypertrophy, Umbilical hernia, Decreased serum leptin, Hyperinsuline...	OMIM:608594
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty, Obesity	ORPHA:254525
Neurodegeneration With Brain Iron Accumulation 1	Mental deterioration, Spasticity, Acanthocytosis, Obsessive-compulsive trait, Parkinsonism, Abnor...	OMIM:234200
Spinocerebellar Ataxia Type 21	Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Cognitive ...	ORPHA:98773
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl...	ORPHA:1988
Ovarian Fibroma	Abnormality of the ovary, Ovarian fibroma, Gonadal calcification	ORPHA:314473
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Parkinson Disease 17	Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Type I diabetes mellitus, Atrioventricular block, Polycystic ovaries, Premature thelarche, Nodula...	ORPHA:371428
Infantile Neuroaxonal Dystrophy	Mental deterioration, Spasticity, Spastic tetraparesis, Short attention span, Emotional lability,...	ORPHA:35069
Cryoglobulinemia, Familial Mixed	Hypertension	OMIM:123550
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Self-injurious behavior, Inability to walk, Rigidity, Aggressive behavior, Hyperactivity, Hyperto...	OMIM:620023
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hypothyroidism, Hypertension, Hyperthyroidism, Diabetes mellitus	ORPHA:449291
Overlap Myositis	Pulmonary arterial hypertension, Hypertension, Raynaud phenomenon, Diabetes mellitus	ORPHA:206572
Bardet-Biedl Syndrome 1	Insulin resistance, Hypogonadism, Decreased testicular size, Abnormality of the ovary, Obesity, M...	OMIM:209900
Low Phospholipid-Associated Cholelithiasis	Cholelithiasis, Hypertension, Diabetes mellitus	ORPHA:69663
Seckel Syndrome 10	Elevated circulating luteinizing hormone level, Congestive heart failure, Elevated circulating fo...	OMIM:617253
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Cognitive imp...	ORPHA:70594
Pancreatic insufficiency, combined exocrine	Exocrine pancreatic insufficiency, Hypoproteinemia	OMIM:260450
Burkitt Lymphoma	Abnormality of the ovary	ORPHA:543
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Insulinoma	Abnormality of the pancreatic islet cells, Transient global amnesia, Recurrent hypoglycemia, Fast...	ORPHA:97279
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Shuffling gait, Spasticity, Dysdiadochokinesis, Resting tremor, Memory impairment, Akinesia, Gait...	ORPHA:247234
X-Linked Intellectual Disability, Cabezas Type	Camptodactyly of finger, Hypogonadism, Decreased testicular size, Obesity, Inguinal hernia, Aggre...	ORPHA:85293
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Umbilical hernia, Decreased serum leptin, Hyperinsulinemia, Labial hypertro...	OMIM:269700
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Hypoplasia of the uterus, Attention deficit hyperactivity disorder	OMIM:617914
Cushing Disease	Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT...	ORPHA:96253
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Depression, Tremor, Self-mutilation, Hyperkinetic movements, Gait disturbance, Hip dysplasia, Mot...	ORPHA:457240
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Parkinson Disease 1, Autosomal Dominant	Mental deterioration, Shuffling gait, Depression, Resting tremor, Bradykinesia, Myoclonus, Rigidi...	OMIM:168601
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Malignant Migrating Focal Seizures Of Infancy	Precocious puberty, Failure to thrive	ORPHA:293181
Fanconi Renotubular Syndrome 5	Hypertension	OMIM:618913
Reni Syndrome	Hypoglycemia, Hypogonadism, Adrenal insufficiency, Cryptorchidism, Hypothyroidism, Hypertriglycer...	OMIM:617575
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Trapezoidal distal femoral ...	OMIM:307800
Aromatic L-Amino Acid Decarboxylase Deficiency	Oculogyric crisis, Hypoglycemia, Tremor, Irritability, Babinski sign, Limb hypertonia, Dystonia, ...	ORPHA:35708
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Caudal Regression Syndrome	Hypertension, Maternal diabetes, Cryptorchidism	ORPHA:3027
Precocious Puberty, Central, 1	Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele...	OMIM:176400
19P13.12 Microdeletion Syndrome	Precocious puberty, Self-injurious behavior, Arthrogryposis multiplex congenita, Obesity, Hyperli...	ORPHA:254346
Cutis Marmorata Telangiectatica Congenita	Telangiectasia, Hypertension	OMIM:219250
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Irregular menstruation, Failure to thrive, Hypoglycemia, Polycystic ovaries, Dysmenorrhea, Increa...	ORPHA:264580
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia...	OMIM:119100
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Ataxia, ...	OMIM:208900
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
X-Linked Charcot-Marie-Tooth Disease Type 5	Pes cavus, Tremor, Gait disturbance, Paraparesis, Ataxia	ORPHA:99014
Intellectual Disability-Strabismus Syndrome	Joint contracture of the hand, Failure to thrive, Decreased response to growth hormone stimulatio...	ORPHA:363528
Fragile X Syndrome	Recurrent hand flapping, Macroorchidism, postpubertal, Hyperactivity, Self-biting, Congenital mac...	OMIM:300624
Mohr-Tranebjaerg Syndrome	Mental deterioration, Spasticity, Tremor, Dystonia, Dysphagia	OMIM:304700
Familial Pseudohyperkalemia	Hypertension	ORPHA:90044
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal temper tantrums, Mental deterioration, Cerebral palsy, Preaxial polydactyly, Pes cavus, ...	ORPHA:163681
Wolfram Syndrome 1	Hypothyroidism, Dysphagia, Testicular atrophy, Diabetes insipidus, Diabetes mellitus	OMIM:222300
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Microretrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Fibular hyp...	OMIM:616300
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Bradykinesia, Inability to walk, Gait ataxia, Myoclonus, Tremor, Rigid...	OMIM:618877
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Hip dislocation, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Hypogonadotropic...	OMIM:614381
Meckel Syndrome 12	Vaginal atresia, Hypoplasia of the uterus, Arthrogryposis multiplex congenita	OMIM:616258
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Telangiectasia, Co...	ORPHA:247691
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Head tremor, Limb ataxia, Gait ataxia, Chorea, Tremor, Elevated circulating creatine kinase conce...	OMIM:606002
Nephronophthisis 2	Pulmonary insufficiency, Hypertension	OMIM:602088
Parkinson Disease, Late-Onset	Short stepped shuffling gait, Depression, Resting tremor, Bradykinesia, Tremor, Rigidity, Parkins...	OMIM:168600
Myoectodermal Gonadal Dysgenesis Syndrome	Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic labia majora, Ele...	OMIM:618419
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Schimke Immunoosseous Dysplasia	Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorchidism, Transie...	OMIM:242900
Heme Oxygenase 1 Deficiency	Epistaxis, Diffuse alveolar hemorrhage, Hypertension	OMIM:614034
Werner Syndrome	Congestive heart failure, Hypogonadism, Thyroid carcinoma, Type II diabetes mellitus, Telangiecta...	ORPHA:902
Developmental And Epileptic Encephalopathy 32	Myoclonus, Tremor, Ataxia	OMIM:616366
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Gait...	ORPHA:98794
Mercury Poisoning	Tachycardia, Hypotension, Hypertension	ORPHA:330021
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Hypertension	OMIM:301050
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Unilateral radial aplasia, Hypercalcemia, Micrognathia, Gait ataxia, Partial absence of thumb, Se...	ORPHA:476126
Dentici-Novelli Neurodevelopmental Syndrome	Precocious puberty, Motor stereotypy	OMIM:619877
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Pes cavus, Gait ataxia, Myoclonus, Dysmetria, Tremor, Babinski sign, Steppage gait, Hypertonia, A...	OMIM:616505
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Angina pectoris, Telangiectasia of the s...	ORPHA:758
Tetanus	Tachycardia, Hypertension, Bradycardia	ORPHA:3299
Androgen Insensitivity, Partial	Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ...	OMIM:312300
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Spasticity, Spastic paraparesis, Cerebral palsy, Abnormal central motor function, L...	ORPHA:760
X-Linked Creatine Transporter Deficiency	Chorea, Self-mutilation, Hyperactivity, Hypertonia, Ataxia, Abnormal circulating creatine concent...	ORPHA:52503
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hyperaldosteronism, Hypertension, Increased circulating renin level	OMIM:612780
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Mitral regurgitation, Pulmonary arterial hypertension, Hyperten...	OMIM:230800
Myoclonic-Astatic Epilepsy	Abnormal emotion, Tremor, Attention deficit hyperactivity disorder, Abnormal pyramidal sign, Hype...	ORPHA:1942
Alagille Syndrome 2	Hypertension, Pulmonic stenosis	OMIM:610205
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Spastic paraparesis, Difficulty walking, Hyperglycinemia, Action tremor, Hepatomegaly, Jaundice, ...	ORPHA:309854
Hereditary Late-Onset Parkinson Disease	Mental deterioration, Shuffling gait, Depression, Resting tremor, Bradykinesia, Frequent falls, A...	ORPHA:411602
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi...	OMIM:613986
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Hyperactivity, Impulsivity	OMIM:300143
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	2-3 toe cutaneous syndactyly, Depression, Short attention span, Aggressive behavior, Attention de...	OMIM:620242
Liver Disease, Severe Congenital	Portal inflammation, Hyperbilirubinemia, Micrognathia, Hepatic steatosis, Abnormal hepatic echoge...	OMIM:619991
Glucocorticoid Deficiency 2	Hypoglycemia, Recurrent hypoglycemia, Bilateral cryptorchidism, Increased circulating ACTH level,...	OMIM:607398
Fg Syndrome 3	Cryptorchidism, Joint contracture, Hyperactivity	OMIM:300406
Renal Hypodysplasia/Aplasia 1	Hypertension	OMIM:191830
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F...	ORPHA:56305
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee...	OMIM:618820
Tenorio Syndrome	Hypoinsulinemia, Hypoglycemia	OMIM:616260
13Q12.3 Microdeletion Syndrome	Failure to thrive, Obesity, Congenital diaphragmatic hernia, Cryptorchidism, Self-mutilation, Hyp...	ORPHA:412035
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Mental deterioration, Postural tremor, Gait ataxia, Action tremor, Myoclonus, Th...	OMIM:254900
Mirage Syndrome	Rocker bottom foot, Hypoglycemia, Radial club hand, Lymphopenia, Leukopenia, Paraplegia, Overlapp...	OMIM:617053
Perry Syndrome	Depression, Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Dementia	ORPHA:178509
Von Hippel-Lindau Syndrome	Pheochromocytoma, Neoplasm of the pancreas, Pancreatic cysts, Hypertension, Paraganglioma	OMIM:193300
Basilicata-Akhtar Syndrome	Precocious puberty, Neonatal hypoglycemia, Camptodactyly	OMIM:301032
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hypogonadism, Splenomegaly, Tremor, Emotional lability, Irritability, Decreased serum zinc, Ataxi...	OMIM:201100
Late Infantile Neuronal Ceroid Lipofuscinosis	Mental deterioration, Spasticity, Inability to walk, Myoclonus, Obsessive-compulsive trait, Low f...	ORPHA:168491
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block	OMIM:617021
Developmental And Epileptic Encephalopathy 111	Premature ventricular contraction, Hypertension, Sinus tachycardia, Cryptorchidism	OMIM:620504
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,...	ORPHA:166016
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Action tremor, Abnormal pyramidal sign, Clonus, Cognitive impairment, A...	ORPHA:99027
Leukodystrophy, Hypomyelinating, 6	Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis	OMIM:612438
Parkinson-Dementia Syndrome	Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Dementia	OMIM:260540
49,Xxxxy Syndrome	Abnormal epiphysis morphology, Hypogonadism, Infertility, Azoospermia, Type II diabetes mellitus,...	ORPHA:96264
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Precocious puberty, Head-banging	OMIM:619356
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,...	ORPHA:96334
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Loss of ambu...	OMIM:607426
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Myoclonus, Tremor, Cognitive impairment, Ataxia, Dementia	OMIM:607876
48,Xxxy Syndrome	Abnormal epiphysis morphology, Hypogonadism, Infertility, Azoospermia, Type II diabetes mellitus,...	ORPHA:96263
Leukodystrophy, Hypomyelinating, 11	Spasticity, Myoclonus, Tremor, Ataxia	OMIM:616494
Argininemia	Portal fibrosis, Spastic paraparesis, Micronodular cirrhosis, Frequent falls, Cholestasis, Hypera...	OMIM:207800
Autosomal Dominant Dopa-Responsive Dystonia	Hypothyroidism, Hypertension	ORPHA:98808
Bardet-Biedl Syndrome	Insulin resistance, Irregular menstruation, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, H...	ORPHA:110
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Hypoglycemia, Hyperglycemia, Myoclonus, Agitation, Hyperglycinemia, Ankle clonus, ...	OMIM:620423
Niemann-Pick Disease Type C	Mental deterioration, Speech apraxia, Hepatosplenomegaly, Limb dystonia, Axial dystonia, Abnormal...	ORPHA:646
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Infant Botulism	Cardiac arrest, Hypotension, Hypertension	ORPHA:178478
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Delayed puberty	OMIM:615866
Spastic Paraplegia 29, Autosomal Dominant	Spastic paraplegia, Neonatal hyperbilirubinemia, Pes cavus, Babinski sign, Lower limb spasticity,...	OMIM:609727
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage	OMIM:618886
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Hypertension	ORPHA:251004
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit...	OMIM:620356
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Pulmonary arterial hypertension, Hypertension	OMIM:613320
Addison Disease	Adrenal calcification, Weight loss, Anorexia, Hypoparathyroidism, Premature ovarian insufficiency...	ORPHA:85138
Chromosome Xp11.23-P11.22 Duplication Syndrome	Precocious puberty	OMIM:300801
Lead Poisoning	Decreased circulating osteocalcin level, Delayed puberty, Hypertension	ORPHA:330015
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Vocal cord paresis, Fasciculations, Pes cavus, Tremor, Impaired tandem gait, Areflexia of lower l...	OMIM:619574
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Metaphyseal chondrodysplasia, Gait distu...	ORPHA:83629
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Depression, Difficulty walking, Mildly elevated creatine kinase, Micrognathia, Pes cavus, Dysmetr...	ORPHA:502423
East Syndrome	Polydipsia, Hypomagnesemia, Difficulty walking, Inability to walk, Action tremor, Hypokalemia, Sa...	ORPHA:199343
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Precocious puberty, Cryptorchidism, Attention deficit hyperactivity disorder, Labial hypoplasia, ...	OMIM:620073
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Increased urinary cortisol level, Capillary fragility, Adre...	ORPHA:99889
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Difficulty walking, Inability to walk, Speech apraxia, Chorea, Hepatic steatosis, Tremor, Elevate...	OMIM:615356
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Hypertension	OMIM:613159
Schimke Immuno-Osseous Dysplasia	Congestive heart failure, Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Abnormal...	ORPHA:1830
Porphyria Variegata	Tachycardia, Inappropriate antidiuretic hormone secretion, Hypertension	ORPHA:79473
19P13.3 Microduplication Syndrome	Precocious puberty, Unilateral cryptorchidism, Self-injurious behavior, Hyperactivity	ORPHA:447980
Spinocerebellar Ataxia 8	Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Dysphagia, Progressive cerebellar at...	OMIM:608768
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Glutaryl-Coa Dehydrogenase Deficiency	Poor motor coordination, Chorea, Limb dystonia, Tremor, Rigidity, Cognitive impairment, Fasting h...	ORPHA:25
Ollier Disease	Precocious puberty	ORPHA:296
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t...	ORPHA:90695
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm...	OMIM:619755
Dihydropyrimidinase Deficiency	Elevated circulating thymine concentration, Elevated circulating creatine kinase concentration, T...	OMIM:222748
Nestor-Guillermo Progeria Syndrome	Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Pulmonary arterial hypertensi...	OMIM:614008
Livedoid Vasculopathy	Graves disease, Ischemic stroke, Telangiectasia of the skin, Hypertension, Diabetes mellitus	ORPHA:542643
Smith-Magenis Syndrome	Precocious puberty, Self-injurious behavior, Failure to thrive in infancy, Obesity, Attention def...	ORPHA:819
Meningioma	Decreased serum estradiol, Secondary growth hormone deficiency, Impotence, Hypothalamic hypothyro...	ORPHA:2495
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Adducted thumb, Hypoplastic spleen, Rocker bottom foot, Dysphagia	ORPHA:89844
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a...	ORPHA:3109
Alstrom Syndrome	Dilated cardiomyopathy, Insulin-resistant diabetes mellitus, Congestive heart failure, Decreased ...	OMIM:203800
Cirrhosis, Familial	Pulmonary arterial hypertension, Hypertension	OMIM:215600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Hypertension	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Hypertension	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Hypertension	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Hypertension	OMIM:612926
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata...	ORPHA:85170
Leopard Syndrome 1	Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty,...	OMIM:151100
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Hypertension, Myocardial infarction, Congestive heart failure	OMIM:208000
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Congenital diaphragmatic hernia, Ovotestis, Chordee, Micropenis, Hypoplasia...	OMIM:309801
Mccune-Albright Syndrome	Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,...	OMIM:174800
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Hyperglycemia, Abnormal pyramidal sign, Ataxia, Hepatomegaly, Anorex...	ORPHA:3008
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Optic Pathway Glioma	Precocious puberty	ORPHA:2086
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Dysphagia, Secondary ame...	OMIM:157640
Alport Syndrome 2, Autosomal Recessive	Hypertension	OMIM:203780
Spermatogenic Failure 38	Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella...	OMIM:618433
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Kleefstra Syndrome Due To A Point Mutation	Precocious puberty, Self-injurious behavior, Failure to thrive, Umbilical hernia, Large for gesta...	ORPHA:261652
Woolly Hair Nevus	Precocious puberty	ORPHA:79414
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Increased circulating ferritin concentration, Hypertriglycerid...	OMIM:619313
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Cryptorchidism, Neonatal death, Inguinal hernia, Hypoplasia of t...	OMIM:601186
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polyd...	OMIM:263520
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Congestive heart failure, Hypogonadism, Abnormal testis morphology, ...	ORPHA:85450
Sheehan Syndrome	Central adrenal insufficiency, Decreased serum estradiol, Breast hypoplasia, Obesity, Decreased f...	ORPHA:91355
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Preaxial polydactyly, Micrognathia, Absent gallbladder, Fibular hypoplasia, Short ri...	OMIM:617925
Fragile X-Associated Tremor/Ataxia Syndrome	Hypotension, Hypothyroidism, Hypertension	ORPHA:93256
Spondyloenchondrodysplasia	Vasculitis, Decreased response to growth hormone stimulation test, Hypothyroidism, Raynaud phenom...	ORPHA:1855
Alagille Syndrome	Delayed puberty, Telangiectasia of the skin, Hypertension, Cryptorchidism	ORPHA:52
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Hypertensive crisis, Elevated circulating calcitonin concentration, E...	ORPHA:653
Polycythemia Vera	Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Budd-Chiari syndrome, Portal hyperten...	ORPHA:729
Amyloidosis, Hereditary Systemic 1	Spasticity, Spastic paraparesis, Confusion, Paraplegia, Limb ataxia, Tremor, Hemiparesis, Abnorma...	OMIM:105210
Aicardi-Goutieres Syndrome 9	Portal hypertension, Hypothyroidism, Hypertension, Increased blood pressure, Pericarditis	OMIM:619487
Nephronophthisis 1	Hypertension	OMIM:256100
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Premature adrenarche, Precocious puberty, Insulin resistance, Failure to thrive, Decreased respon...	ORPHA:96182
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Hypertension	OMIM:612925
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Tremor, Torticollis, Torsion dystonia, Dysphagia	OMIM:224500
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Adenine Phosphoribosyltransferase Deficiency	Atrial fibrillation, Hypertension	ORPHA:976
Angelman Syndrome	Self-injurious behavior, Precocious puberty in females, Delayed menarche, Obesity, Inappropriate ...	ORPHA:72
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Hyp...	ORPHA:183
Parkinson Disease 23, Autosomal Recessive Early-Onset	Mental deterioration, Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism...	OMIM:616840
Omodysplasia 1	Rhizomelia, Short tibia, Limited knee flexion/extension, Micrognathia, Short humerus, Fibular hyp...	OMIM:258315
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Gait ataxia, Tremor, Dysmetria, Limb hypertonia, Hypertonia, Exaggerated star...	OMIM:618056
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Rhizomelia, Leukopenia, Micrognathia, Myoclonus, Hepatic steatosis, Tremor, Hyperkine...	OMIM:616271
Autosomal Dominant Polycystic Kidney Disease	Pituitary growth hormone cell adenoma, Pancreatic cysts, Hypertension	ORPHA:730
9P13 Microdeletion Syndrome	Precocious puberty, Umbilical hernia, Bruxism, External genital hypoplasia, Attention deficit hyp...	ORPHA:324313
Methylcobalamin Deficiency Type Cble	Hypertension	ORPHA:2169
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Pulmonary carcinoid tumor, Congestive heart failure, Mitral regurgitation,...	ORPHA:363618
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotropin deficient adrena...	ORPHA:199299
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Marbach-Schaaf Neurodevelopmental Syndrome	Hemidystonia, Speech apraxia, Recurrent hand flapping, Tremor, Aggressive behavior, Attention def...	OMIM:619680
Porphyria, Acute Intermittent	Tachycardia, Hypertension	OMIM:176000
Radio-Tartaglia Syndrome	Precocious puberty, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, Dysph...	OMIM:619312
Serotonin Syndrome	Tachycardia, Hypotension, Hypertension	ORPHA:43116
Wagro Syndrome	Decreased testicular size, Hypertension	OMIM:612469
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypertension	OMIM:613095
Hyperlysinemia	Poor motor coordination, Hypoornithinemia, Tip-toe gait, Short attention span, Hyperammonemia, Tr...	ORPHA:2203
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Hypoplasia of the ovary, Abdominal obesity, Micropenis, Flexion contra...	OMIM:619321
Migraine, Familial Hemiplegic, 2	Episodic ataxia, Hemiplegia, Confusion, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia	OMIM:602481
Pseudohypoparathyroidism Type 1A	Pituitary resistance to thyroid hormone, Elevated circulating calcitonin concentration, Elevated ...	ORPHA:79443
Alexander Disease	Precocious puberty, Hypotension, Hypothyroidism, Sudden cardiac death, Hypertension, Diabetes mel...	ORPHA:58
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Reticulocytosis, Tremor, Ataxia, Hemolytic anemia, Decreased hemoglobin conce...	ORPHA:713
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib...	ORPHA:2634
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Hypertension	OMIM:619758
Primary Progressive Freezing Gait	Hypertension	ORPHA:75567
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta...	OMIM:227270
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hypertension, Pancreatic cysts, Portal hypertension, Hematemesis	OMIM:263200
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru...	OMIM:119800
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Structural foot deformity, Mildly elevated creatine kinase, Tremor	ORPHA:397744
Coach Syndrome 1	Hypertension, Portal hypertension	OMIM:216360
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Hypertension, Anterior hypopituitarism, Pi...	ORPHA:1435
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Aortic Arch Interruption	Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su...	ORPHA:2299
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Spasticity, Glycosuria, Exocrine pancreatic insufficiency, Glucose intolerance, Tremor, Irritabil...	OMIM:616539
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl...	ORPHA:3320
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Tetraparesis, Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Trem...	OMIM:613179
Autosomal Dominant Progressive External Ophthalmoplegia	Depression, Resting tremor, Frequent falls, Absent Achilles reflex, Abnormality of the liver, Glu...	ORPHA:254892
Spastic Paraplegia 9B, Autosomal Recessive	Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ...	OMIM:616586
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Hypocalcemia, Brachydactyly, Asplenia, Hypoplastic spleen	OMIM:602361
Renal Hypoplasia, Bilateral	Hypertension, Cryptorchidism	ORPHA:97362
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension	OMIM:614424
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Smooth Muscle Dysfunction Syndrome	Pulmonary arterial hypertension, Hypertension, Cryptorchidism	OMIM:613834
Neuroblastoma, Susceptibility To, 1	Hypertension	OMIM:256700
Pitt-Hopkins-Like Syndrome 1	Spasticity, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia,...	OMIM:610042
Glycogen Storage Disease Ia	Delayed puberty, Hypertension	OMIM:232200
Scalp-Ear-Nipple Syndrome	Breast aplasia, Type I diabetes mellitus, Hypertension	ORPHA:2036
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy, Arrhythmia, Hypertension, Cryptorchidism	OMIM:614052
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Hypertensive crisis, Pulmonary arterial hypertension, Congestive hear...	ORPHA:220393
Spermatogenic Failure 2	Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia	OMIM:108420
Alg9-Cdg	Hypoplastic nipples, Hypoplasia of the ovary, Lipodystrophy, Omphalocele, Bicornuate uterus	ORPHA:79328
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Alternating Hemiplegia Of Childhood	Ataxia, Skewfoot, Oral-pharyngeal dysphagia, Tetraparesis, Episodic hemiplegia, Chorea, Emotional...	ORPHA:2131
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Tachycardia, Hypertension, Orthostatic hypotension	OMIM:223900
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis	OMIM:611812
Metachromatic Leukodystrophy	Addictive behavior, Progressive spasticity, Tip-toe gait, Decerebrate rigidity, Incoordination, E...	ORPHA:512
Acute Interstitial Pneumonia	Hypertension	ORPHA:79126
Sickle Cell Disease	Cholelithiasis, Hypertension	OMIM:603903
8P Inverted Duplication/Deletion Syndrome	Precocious puberty, Contractures of the large joints, Cryptorchidism, Aplasia/Hypoplasia of the g...	ORPHA:96092
Birk-Landau-Perez Syndrome	Hypertension	OMIM:617595
Wars2-Related Combined Oxidative Phosphorylation Defect	Difficulty walking, Positional foot deformity, Limb dystonia, Tremor, Dysmetria, Aggressive behav...	ORPHA:572798
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia...	OMIM:185070
Fabry Disease	Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc...	ORPHA:324
Brain-Lung-Thyroid Syndrome	Involuntary movements, Falls, Incoordination, Chorea, Abnormal eating behavior, Myoclonus, Intent...	ORPHA:209905
Igg4-Related Retroperitoneal Fibrosis	Budd-Chiari syndrome, Large vessel vasculitis, Hashimoto thyroiditis, Renovascular hypertension, ...	ORPHA:49041
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension, Cryptorchidism	ORPHA:1555
Aorta Coarctation	Pulmonary arterial hypertension, Hypertension, Congestive heart failure	ORPHA:1457
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe...	OMIM:146255
Simple Cryoglobulinemia	Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Raynaud phenomenon, Hypertensi...	ORPHA:91139
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:616950
Myhre Syndrome	Precocious puberty, Abnormal penis morphology, Hypogonadism, External genital hypoplasia, Cryptor...	ORPHA:2588
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit...	OMIM:620303
Glycogen Storage Disease Ib	Delayed puberty, Hypertension, Pancreatic fibrosis	OMIM:232220
Crimean-Congo Hemorrhagic Fever	Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Adrenal insufficiency, Hemothorax,...	ORPHA:99827
Tick-Borne Encephalitis	Tongue fasciculations, Depression, Incoordination, Speech apraxia, Leukopenia, Leukocytosis, Trem...	ORPHA:297
Carpenter Syndrome 1	Precocious puberty, Joint contracture of the hand, Umbilical hernia, External genital hypoplasia,...	OMIM:201000
Turner Syndrome Due To Structural X Chromosome Anomalies	Atypical scarring of skin, Female infertility, Abnormality of the ovary, Failure to thrive in inf...	ORPHA:99413
Mosaic Monosomy X	Atypical scarring of skin, Female infertility, Abnormality of the ovary, Failure to thrive in inf...	ORPHA:99228
Monosomy X	Atypical scarring of skin, Female infertility, Abnormality of the ovary, Failure to thrive in inf...	ORPHA:99226
Turner Syndrome	Atypical scarring of skin, Female infertility, Abnormality of the ovary, Failure to thrive in inf...	ORPHA:881
Wilson Disease	Hypouricemia, Hyperbilirubinemia, Limb dystonia, Hepatic steatosis, Cirrhosis, Hepatomegaly, Jaun...	OMIM:277900
Somatomammotropinoma	Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio...	ORPHA:314769
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Subarachnoid he...	ORPHA:90068
Supranuclear Palsy, Progressive, 1	Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Retrocollis, Limb dyst...	OMIM:601104
Popliteal Pterygium Syndrome	Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,...	OMIM:119500
Beta-Ketothiolase Deficiency	Hypotension, Hypertension	ORPHA:134
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Atrial fibrillation, Tachyca...	ORPHA:31826
Occipital Horn Syndrome	Cholestasis, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morphology, Short palm, Jaun...	ORPHA:198
Japanese Encephalitis	Neutrophilia, Genu recurvatum, Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Abnorma...	ORPHA:79139
Hyperthyroidism, Nonautoimmune	Small for gestational age, Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased ...	OMIM:609152
Cockayne Syndrome Type 1	Male hypogonadism, Hypertension, Cryptorchidism	ORPHA:90321
Hypoplasminogenemia	Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis	ORPHA:722
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Vasculitis, Type I diabetes mellitus, Dilated cardiomyopathy, Portal hypertension, Hashimoto thyr...	OMIM:615688
Spermatogenic Failure 75	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619949
Interstitial Cystitis	Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Abnormal vagina morph...	ORPHA:37202
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypertension, Hydrocele testis, Pulmonary embolism	ORPHA:567546
Renal Hypoplasia	Hypertension	ORPHA:93101
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypog...	ORPHA:95494
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypotension, Hypertension	OMIM:174000
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bone marrow hypocellularity, Spasticity, Mental deterioration, Hemiplegia, Metaphyseal sclerosis,...	OMIM:612199
Autosomal Dominant Spastic Paraplegia Type 9A	Memory impairment, Falls, Dementia, Pes cavus, Tremor, Babinski sign, Abnormal pyramidal sign, Sp...	ORPHA:447753
Poliomyelitis	Hypovolemic shock, Hypotension, Hypertension	ORPHA:2912
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Hypertension, Angina pecto...	ORPHA:900
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Metaphyseal irregularity, Irregular epiphyses, Hypoplastic iliac wing, Cone-sha...	OMIM:208500
Glycogen Storage Disease Ic	Spider hemangioma, Pulmonary arterial hypertension, Hypertension, Delayed puberty	OMIM:232240
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia	OMIM:614653
Familial Dysautonomia	Tachycardia, Hypertension, Orthostatic hypotension	ORPHA:1764
Acromegaly	Pituitary prolactin cell adenoma, Hypertrophic cardiomyopathy, Pituitary growth hormone cell aden...	ORPHA:963
Acromelic Frontonasal Dysostosis	Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic...	OMIM:603671
Intrahepatic Cholestasis Of Pregnancy	Depression, Hyperbilirubinemia, Cholecystitis, Tremor, Increased serum bile acid concentration, J...	ORPHA:69665
Bainbridge-Ropers Syndrome	Precocious puberty, Self-injurious behavior, Failure to thrive, Supernumerary nipple, Recurrent h...	OMIM:615485
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Confusion, Reti...	OMIM:274150
Ophthalmomandibulomelic Dysplasia	Lateral humeral condyle aplasia, Radial bowing, Ulnar deviated club hands, Fibular hypoplasia, Co...	OMIM:164900
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ...	ORPHA:3342
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,...	OMIM:600002
Neuroleptic Malignant Syndrome	Oculogyric crisis, Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Extrapyramidal muscular rigi...	ORPHA:94093
Lesch-Nyhan Syndrome	Testicular atrophy, Self-injurious behavior, Dysphagia	OMIM:300322
Arterial Tortuosity Syndrome	Aortic valve stenosis, Aortic regurgitation, Ischemic stroke, Telangiectases of the cheeks, Hyper...	OMIM:208050
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Attention deficit hyperactivity disorder, Abnormal female external genitalia ...	ORPHA:2637
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hypertension	OMIM:235400
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Micrognathi...	OMIM:274000
Familial Bicuspid Aortic Valve	Aortic valve stenosis, Heart murmur, Aortic regurgitation, Hypertension	ORPHA:402075
Spermatogenic Failure 77	Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility	OMIM:620103
Atelosteogenesis, Type I	Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of...	OMIM:108720
Steinert Myotonic Dystrophy	Insulin resistance, Male hypogonadism, Cholelithiasis, Impotence, Oral-pharyngeal dysphagia, Decr...	ORPHA:273
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Rhizomelic arm shortening, Micrognathia, Short humerus,...	OMIM:164745
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Subarachnoid hemorrhage, Abnorm...	ORPHA:91387
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Clonus, Tremor, Elevated circulating creatine kinase concentration	OMIM:619424
Combined Oxidative Phosphorylation Deficiency 15	Hypertension, Wolff-Parkinson-White syndrome, Shortened PR interval	OMIM:614947
Tuberous Sclerosis 1	Precocious puberty, Dental enamel pits, Attention deficit hyperactivity disorder, Hypothyroidism,...	OMIM:191100
Legius Syndrome	Male urethral meatus stenosis, Xanthelasma, Attention deficit hyperactivity disorder, Multiple li...	ORPHA:137605
Apert Syndrome	Ovarian neoplasm, Hypertension	ORPHA:87
Multiple System Atrophy 1, Susceptibility To	Tremor, Rigidity, Babinski sign, Parkinsonism, Cognitive impairment, Ataxia, Bradykinesia, Impotence	OMIM:146500
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent ...	ORPHA:958
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypocalcemic seizures, Male infertility	ORPHA:2239
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Dementia, Tremor, Rigidity, Hypertonia, Progressive neurologic deterioration	OMIM:176500
Renal Agenesis	Hypertension	ORPHA:411709
Scorpion Envenomation	Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu...	ORPHA:466677
Phakomatosis Pigmentokeratotica	Precocious puberty, Pheochromocytoma, Hyperhidrosis, Cryptorchidism	ORPHA:2874
Tuberous Sclerosis Complex	Pituitary adenoma, Pheochromocytoma, Parathyroid hyperplasia, Carcinoid tumor, Internal hemorrhag...	ORPHA:805
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Male infertility	OMIM:618948
Xfe Progeroid Syndrome	Hypertension	OMIM:610965
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension	OMIM:616914
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Umbilical hernia, Labial hypert...	ORPHA:96191
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Ataxia, Hepatomegaly, Hypoplastic...	ORPHA:699
Posterior Urethral Valve	Hypertension	ORPHA:93110
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Dentinogenesis imperfecta, Type I diabetes mellitus, Obesity	OMIM:619269
Schinzel-Giedion Syndrome	Central hypothyroidism, Annular pancreas, Umbilical hernia, Failure to thrive in infancy, Streak ...	ORPHA:798
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Periodic paralysis, Tremor	OMIM:613239
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Cholelithiasis, Hypoglycemia, Umbilical hernia, Obesity, Aggressive behavior,...	OMIM:301066
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel...	OMIM:131100
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Hematemesis, Internal he...	ORPHA:340
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ischemia, Intracranial hemorrhage, Hype...	ORPHA:394
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Precocious puberty, Type II diabetes mellitus, Enamel hypoplasia, Truncal obesity, Hypospadias	OMIM:210720
Alkaptonuria	Aortic valve stenosis, Black pigment gallstones, Mitral regurgitation, Mitral stenosis, Hypothyro...	ORPHA:56
Alport Syndrome 3A, Autosomal Dominant	Hypertension	OMIM:104200
Aicardi-Goutieres Syndrome 7	Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Hypothyroidism, Hematemesis, Hypertension	OMIM:615846
Neurofibromatosis, Type I	Pheochromocytoma, Hypertension, Parathyroid adenoma	OMIM:162200
Fibrochondrogenesis 1	Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Broad long bones, Fibular hypop...	OMIM:228520
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,...	ORPHA:424
Atypical Werner Syndrome	Aortic valve stenosis, Abnormal circulating leptin concentration, Insulin-resistant diabetes mell...	ORPHA:79474
Hurler Syndrome	Angina pectoris, Hypertension, Cardiomyopathy	ORPHA:93473
Ciliary Dyskinesia, Primary, 14	Immotile sperm, Reduced sperm motility, Polysplenia, Male infertility	OMIM:613807
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Spasticity, Cholecystitis, Tremor, Macrocytic anemia, Splenome...	OMIM:615512
Galloway-Mowat Syndrome 3	Hypertension	OMIM:617729
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral hemorrhage, Fingerpad telangiectases...	OMIM:600376
Combined Oxidative Phosphorylation Deficiency 3	Hyperammonemia, Tremor, Elevated circulating creatine kinase concentration, Hyponatremia, Cogniti...	OMIM:610505
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Hypertensive crisis, Hypertension, Diabetes mellitus	ORPHA:544482
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Hallermann-Streiff Syndrome	Telangiectasia, Pulmonary arterial hypertension, Hypertension, Cryptorchidism	OMIM:234100
Denys-Drash Syndrome	Ovarian gonadoblastoma, Hypertension	OMIM:194080
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Oligomeganephronia	Hypertension	ORPHA:2260
Papillorenal Syndrome	Hypertension	OMIM:120330
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Epistaxis, Pulmonary venous hypertension, Polycystic ovaries, Hypothyroidism, Delayed puberty, Hy...	ORPHA:79259
Tibial Hemimelia	Absent tibia	OMIM:275220
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Multicystic Dysplastic Kidney	Hypertension, Cryptorchidism	ORPHA:1851
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension	OMIM:123790
Acute Intermittent Porphyria	Tachycardia, Hypertension	ORPHA:79276
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Aortic regurgitation, Delayed menarche, Transient ischemic attack, Left ve...	ORPHA:740
Pallister-Hall Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Panhypopituitarism, De...	OMIM:146510
Tuberous Sclerosis 2	Precocious puberty, Attention deficit hyperactivity disorder, Hypothyroidism, Adenoma sebaceum, S...	OMIM:613254
Carey-Fineman-Ziter Syndrome	Hypertensive crisis	ORPHA:1358
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Postprandial hyperglycemia, Periodic hypokalemic paresis, Hypomagnesemia, T...	ORPHA:79102
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,...	ORPHA:99819
Early Infantile Epileptic Encephalopathy	Precocious puberty, Self-injurious behavior, Failure to thrive, Umbilical hernia, Hyperactivity, ...	ORPHA:1934
Hydrolethalus Syndrome 1	Accessory spleen, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equino...	OMIM:236680
Juvenile Polyposis Syndrome	Hepatic arteriovenous malformation, Anemia, Extrahepatic portal hypertension, Hypoproteinemia, Ne...	ORPHA:2929
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Blau Syndrome	Hypertension, Pericarditis	OMIM:186580
Senior-Boichis Syndrome	Hypertension, Portal hypertension	ORPHA:84081
Bifid Nose With Or Without Anorectal And Renal Anomalies	Precocious puberty, Rectovaginal fistula	OMIM:608980
Alport Syndrome	Hypertension	ORPHA:63
Cystinosis, Nephropathic	Progressive neurologic deterioration, Male hypogonadism, Decreased circulating carnitine concentr...	OMIM:219800
Hardikar Syndrome	Portal hypertension, Impaired growth-hormone response to glucagon stimulation test, Decreased ser...	OMIM:301068
Au-Kline Syndrome	Hypertension, Cryptorchidism, Supernumerary nipple	OMIM:616580
Familial Osteodysplasia, Anderson Type	Hypertension	ORPHA:2769
Cockayne Syndrome A	Hypogonadism, Cryptorchidism, Thymic hormone decreased, Arrhythmia, Hypertension	OMIM:216400
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Schimmelpenning-Feuerstein-Mims Syndrome	Precocious puberty	OMIM:163200
Postinfectious Vasculitis	Cardiomyopathy, Cerebral vasculitis, Ischemic stroke, Orchitis, Raynaud phenomenon, Vasculitis in...	ORPHA:48435
Marshall-Smith Syndrome	Bilateral cryptorchidism, Cryptorchidism, Premature ventricular contraction, Pulmonary arterial h...	OMIM:602535
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia	ORPHA:1827
Spermatogenic Failure 14	Azoospermia, Male infertility, Round spermatid arrest	OMIM:615842
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypertension, Myocardial infarction	ORPHA:90038
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent tib...	OMIM:200980
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, Failure to thrive, Bruxism, Reduced subcutaneous adipose tissue, Self-mutilat...	OMIM:619950
Gaucher Disease	Pancytopenia, Cirrhosis, Ataxia, Hepatomegaly, Elevated circulating C-reactive protein concentrat...	ORPHA:355
Kabuki Syndrome	Precocious puberty, Failure to thrive, Obesity, Congenital diaphragmatic hernia, Cryptorchidism, ...	ORPHA:2322
Peters Plus Syndrome	Umbilical hernia, Congenital hypothyroidism, Cryptorchidism, Inguinal hernia, Hypoplasia of the u...	ORPHA:709
Hunter-Macdonald Syndrome	Aortic regurgitation, Hypertension, Mitral regurgitation	OMIM:611962
Orofaciodigital Syndrome I	Pancreatic cysts, Hypertension, Ovarian cyst	OMIM:311200
Adams-Oliver Syndrome 1	Aortic valve stenosis, Supernumerary nipple, Pulmonary arterial hypertension, Hypertension, Pulmo...	OMIM:100300
Pallister-Hall Syndrome	Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ...	ORPHA:672
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Hypertension, Breast aplasia, Congestive heart failure	OMIM:181270
X-Linked Intellectual Disability, Snyder Type	Abnormality of the Leydig cells, Cryptorchidism, Camptodactyly, Testicular atrophy, Hypospadias	ORPHA:3063
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hypertension	OMIM:617913
Campomelic Dysplasia	Small abnormally formed scapulae, 11 pairs of ribs, Micrognathia, Femoral bowing, Tibial bowing, ...	ORPHA:140
Lipodystrophy, Familial Partial, Type 7	Type I diabetes mellitus, Pulmonary arterial hypertension, Hypertension, Orthostatic hypotension	OMIM:606721
Tolchin-Le Caignec Syndrome	Precocious puberty, Attention deficit hyperactivity disorder, Umbilical hernia	OMIM:618971
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Precocious puberty, Hiatus hernia, Motor stereotypy, Cryptorchidism	OMIM:616682
Fanconi Anemia, Complementation Group A	Absent thumb, Short thumb, Absent radius, Pancytopenia, Anemia, Reticulocytopenia, Hypergonadotro...	OMIM:227650
Neurofibromatosis Type 1	Precocious puberty, Pheochromocytoma, Cryptorchidism, Delayed puberty, Carcinoid tumor, Abnormali...	ORPHA:636
Smith-Lemli-Opitz Syndrome	Precocious puberty, Small scrotum, Failure to thrive, Bifid scrotum, Hypocholesterolemia, Septate...	OMIM:270400
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening...	OMIM:114290
Cockayne Syndrome	Absence of pubertal development, Cryptorchidism, Delayed puberty, Retinal hemorrhage, Hypertensio...	ORPHA:191
17Q11 Microdeletion Syndrome	Precocious puberty, Elevated circulating parathyroid hormone level, Hypertrophic cardiomyopathy, ...	ORPHA:97685
Cockayne Syndrome B	Arrhythmia, Hypertension, Cryptorchidism	OMIM:133540
African Trypanosomiasis	Difficulty walking, Hepatosplenomegaly, Hemiparesis, Delirium, Hepatomegaly, Jaundice, Choreoathe...	ORPHA:3385
Acute Transverse Myelitis	Subarachnoid hemorrhage, Hypertension, Orthostatic hypotension	ORPHA:139417
Koolen-De Vries Syndrome Due To A Point Mutation	Precocious puberty, Decreased response to growth hormone stimulation test, Slender build, Inappro...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Slender build, Inappro...	ORPHA:363958
Immunodeficiency 87 And Autoimmunity	Pulmonary arterial hypertension, Hypertension, Third degree atrioventricular block, Dilated cardi...	OMIM:619573
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Pancreatic cysts, Hypertension	OMIM:266920
Orofaciodigital Syndrome Type 1	Pancreatic cysts, Hypertension	ORPHA:2750
Hypomagnesemia 3, Renal	Hypertension, Elevated circulating parathyroid hormone level	OMIM:248250
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Obesity, Precocious puberty, Hypertriglyceridemia	ORPHA:369837
Myhre Syndrome	Aortic valve stenosis, Hypertension, Cryptorchidism	OMIM:139210
Aicardi Syndrome	Precocious puberty, Multiple lipomas, Hiatus hernia, Delayed puberty	ORPHA:50
Cranioectodermal Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Rhizomelia, Short distal phalanx of f...	OMIM:218330
Charge Syndrome	Bifid femur, Aplasia/Hypoplasia of the thymus, Short thumb, Hand monodactyly, Lymphopenia, Microg...	OMIM:214800
Peters-Plus Syndrome	Umbilical hernia, Cryptorchidism, Decreased body weight, Hypoplastic labia majora, Hypoplasia of ...	OMIM:261540
Kinsship Syndrome	Dislocated radial head, Bruxism, Micrognathia, Myoclonus, Fibular hypoplasia, Polydactyly, Coxa v...	OMIM:619297
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Portal hypertension, Biliary hyperplasia, Pancreatic cysts, Hyperten...	ORPHA:731
Arima Syndrome	Hypertension	OMIM:243910
Floating-Harbor Syndrome	Precocious puberty, Varicocele, Abnormal temper tantrums, Cryptorchidism, Aggressive behavior, At...	ORPHA:2044
Cranioectodermal Dysplasia 2	Hypertension, Bile duct proliferation	OMIM:613610
Mucopolysaccharidosis Type 2, Severe Form	Heart murmur, Arrhythmia, Hypertension, Cardiomyopathy	ORPHA:217085
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Hypospadias	OMIM:615877
Mucopolysaccharidosis Type 2, Attenuated Form	Heart murmur, Arrhythmia, Hypertension, Cardiomyopathy	ORPHA:217093
Homozygous Familial Hypercholesterolemia	Supravalvular aortic stenosis, Mitral regurgitation, Hypertension, Angina pectoris, Heart murmur,...	ORPHA:391665
Blau Syndrome	Large vessel vasculitis, Pulmonary arterial hypertension, Abnormal salivary gland morphology, Hyp...	ORPHA:90340
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Alström Syndrome	Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m...	ORPHA:64
Mucopolysaccharidosis Type 2	Arrhythmia, Hypertension, Cardiomyopathy	ORPHA:580
Generalized Arterial Calcification Of Infancy	Adrenal calcification, Transient ischemic attack, Left ventricular systolic dysfunction, Weak pul...	ORPHA:51608
Williams Syndrome	Precocious puberty, Cholelithiasis, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebr...	ORPHA:904
Aicardi Syndrome	Precocious puberty, Lipoma, Hiatus hernia	OMIM:304050
Doors Syndrome	Congenital hypothyroidism, Adrenal hyperplasia	ORPHA:79500
22Q11.2 Deletion Syndrome	Hypertensive crisis, Gastrointestinal hemorrhage, Cholelithiasis, Corneal neovascularization, Cry...	ORPHA:567
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v...	ORPHA:3144
Renal Dysplasia	Hypertension	ORPHA:93108
Systemic Lupus Erythematosus	Hypertension, Raynaud phenomenon	ORPHA:536
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Increased circulating prolactin concentration, Cryptorchidism, Uterine prolap...	ORPHA:438213
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Yunis-Varon Syndrome	Cardiomyopathy, Cryptorchidism, Pulmonary arterial hypertension, Renovascular hypertension, Hyper...	ORPHA:3472
Wolf-Hirschhorn Syndrome	Precocious puberty, Failure to thrive, Cryptorchidism, Aplasia of the uterus, Motor stereotypy, H...	OMIM:194190
Keutel Syndrome	Hypertension, Pulmonic stenosis	OMIM:245150
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto...	ORPHA:2753
Paroxysmal Nocturnal Hemoglobinuria	Budd-Chiari syndrome, Pulmonary embolism, Myocardial infarction, Hypertension	ORPHA:447
Congenital Disorder Of Glycosylation, Type Iim	Hypertension	OMIM:300896
Williams-Beuren Syndrome	Early onset of sexual maturation, Portal hypertension, Supravalvular aortic stenosis, Mitral regu...	OMIM:194050
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hypertension, Cryptorchidism	OMIM:210710
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Oligozoospermia, Male infertility	ORPHA:48
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypertrophic cardiomyopathy, Hypertension, Mitral regurgitation	OMIM:220111
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Male infertility	OMIM:277180
Cystic Fibrosis	Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Cirrhosis, Pancreatitis...	OMIM:219700
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Hypertension, Corneal neovascularization, Cryptorchidism	OMIM:308205
Sponastrime Dysplasia	Precocious puberty, Hypothyroidism, Hypospadias, Small for gestational age	ORPHA:93357
Vascular Ehlers-Danlos Syndrome	Transient ischemic attack, Cryptorchidism, Telangiectasia of the skin, Internal hemorrhage, Renov...	ORPHA:286

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 Vgf

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 Vgf.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Vgf^{em1(IMPC)Wtsi}	PMC7263671

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MGI Allele	Allele Type	Produced
Vgf^em1(IMPC)H	Indel	Mice
Vgf^{em1(IMPC)Wtsi}	Point Mutation	Mice

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: Vgf MGI:1343180

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

Human diseases caused by Vgf mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data