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Gene: Vgf MGI:1343180

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Gene Summary

Name:
VGF nerve growth factor inducible
Synonyms:
LOC381677

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating aspartate transaminase level Vgfem1(IMPC)H HOM   Early adult 8.77×10-05
increased circulating alanine transaminase level Vgfem1(IMPC)H HOM Early adult 2.18×10-12
male infertility Vgfem1(IMPC)H HOM Early adult 0.00
decreased circulating glucose level Vgfem1(IMPC)H HOM Early adult 2.13×10-08
short tibia Vgfem1(IMPC)H HOM Early adult 5.44×10-06
increased circulating total protein level Vgfem1(IMPC)H HOM Early adult 9.52×10-05
limb grasping Vgfem1(IMPC)H HOM Early adult 4.80×10-09
tremors Vgfem1(IMPC)H HOM Early adult 5.01×10-05
decreased prepulse inhibition Vgfem1(IMPC)H HOM Early adult 2.60×10-07
decreased circulating fructosamine level Vgfem1(IMPC)H HOM Early adult 1.53×10-08
abnormal locomotor behavior Vgfem1(IMPC)H HOM Early adult 1.22×10-10
increased grip strength Vgfem1(IMPC)H HOM Early adult 1.24×10-05
decreased spleen weight Vgfem1(IMPC)H HOM Early adult 6.36×10-05
hyperactivity Vgfem1(IMPC)H HOM Early adult 1.59×10-28
increased exploration in new environment Vgfem1(IMPC)H HOM Early adult 1.20×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
7q11.23 duplication syndrome
Short attention span DECIPHER:43
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... OMIM:103900
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Diabetes mellitus, Myocardial infarction OMIM:608320
Episodic Ataxia, Type 1
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... OMIM:160120
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Hyperaldosteronism, Familial, Type Iv
Hypertension, Hyperaldosteronism OMIM:617027
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
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula... OMIM:605373
Sandhoff Disease, Adult Form
Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Focal dystonia, Gait ataxi... ORPHA:309169
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Hypertension, Type II diabetes mellitus, Myocardial infarction OMIM:610947
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Spinal Muscular Atrophy, Jokela Type
Pes planus, Elevated circulating creatine kinase concentration, Tremor, Calf muscle hypertrophy, ... OMIM:615048
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hyperaldosteronism OMIM:605635
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ... OMIM:168000
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Abnormal foot morphology, Decreased patellar reflex, Absent patellar reflexes, Mildly ele... OMIM:614369
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par... ORPHA:216873
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Co... ORPHA:401901
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... OMIM:615954
Pseudohypoaldosteronism, Type Iia
Hypertension, Pseudohypoaldosteronism OMIM:145260
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Absent Achilles reflex OMIM:311050
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries ORPHA:79084
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myocl... OMIM:615924
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Hypertension, Transient ischemic attack OMIM:616779
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Ankle flexion contracture, Inability to walk, Babinski sign, Spastic tetraplegia, ... OMIM:616657
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Hepatic f... ORPHA:247585
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Type II diabetes mellitus, Myocardial infarction OMIM:615703
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... OMIM:219080
Lessel-Kubisch Syndrome
Hypertension, Hypogonadism OMIM:618681
Glucocorticoid Resistance, Generalized
Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s... OMIM:615962
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Hyperaldosteronism, Familial, Type Iii
Hypertension, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... ORPHA:3464
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Pure Autonomic Failure
Abnormality of circulating catecholamine level, Syncope, Orthostatic hypotension ORPHA:441
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... ORPHA:3085
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... OMIM:615830
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr... ORPHA:158048
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... ORPHA:432
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:604367
Liddle Syndrome 2
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618126
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity OMIM:611105
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Small hand, Inappropriate laughter... OMIM:616269
Ovarian Dysgenesis 10
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decr... ORPHA:453533
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Lower Motor Neuron Syndrome With Late-Adult Onset
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ... ORPHA:276435
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Epilepsy, Progressive Myoclonic, 6
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... OMIM:614018
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hypertension, Decreased adiponectin level, Decreased serum leptin OMIM:615238
Maternally-Inherited Diabetes And Deafness
Congestive heart failure, Hypertension, Type II diabetes mellitus, Arrhythmia, Hypertrophic cardi... ORPHA:225
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... ORPHA:231580
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto... ORPHA:79262
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Liddle Syndrome 1
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:177200
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Pes cavus OMIM:617018
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Glutaric Aciduria Iii
Hypertension, Hyperthyroidism, Goiter OMIM:231690
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension, Abnormality of the adrenal glands, Neoplasm of the adr... ORPHA:251992
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra... OMIM:213600
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors OMIM:159900
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Progressive neurologic deterioration, Tremor, Dysphagia, Choreoathetosis, Irritability,... OMIM:261630
Migraine, Familial Hemiplegic, 1
Ataxia, Confusion, Tremor, Hemiparesis, Agitation, Hemiplegia OMIM:141500
Hemophagocytic Lymphohistiocytosis, Familial, 1
Decreased HDL cholesterol concentration, Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, H... OMIM:267700
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia, Pes cavus, Palmoplantar hyperkeratosis OMIM:309560
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... OMIM:606159
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism ORPHA:181
Pseudohypoaldosteronism, Type Iib
Hypertension, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Pseudohypoaldosteronism OMIM:614495
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Recurrent hy... ORPHA:79299
Spinocerebellar Ataxia 37
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Abnormal left ventri... OMIM:540000
Preeclampsia
Elevated diastolic blood pressure, Polycystic ovaries, Hypertension, Elevated systolic blood pres... ORPHA:275555
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Lipodystrophy... ORPHA:528
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis, Pes cavus OMIM:158580
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogonadism, Cognitive impairme... OMIM:615768
Familial Cervical Artery Dissection
Diabetes mellitus, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... ORPHA:36382
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc... ORPHA:90041
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, D... OMIM:612126
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Corticosteroid-Binding Globulin Deficiency
Hypertension, Decreased circulating cortisol level, Hypotension OMIM:611489
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Apparent Mineralocorticoid Excess
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:218030
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Fatiguable weaknes... ORPHA:90117
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Hypertension, Increased circulating cortisol lev... OMIM:171400
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Congenital Disorder Of Glycosylation, Type Ij
Micrognathia, Tremor, Cryptorchidism, Jaundice, Aggressive behavior, Hypertonia, Clinodactyly of ... OMIM:608093
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Bilateral coxa valga OMIM:620270
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Confusion, Tremor, Babinski sign, Depression, Gait ataxia, Dementia, Abnormality of extra... OMIM:615362
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Depression, Bradykinesia, Dystonia, ... OMIM:128235
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia OMIM:264070
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Renal Failure, Progressive, With Hypertension
Hypertension OMIM:161900
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Le... ORPHA:251282
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Potocki-Shaffer Syndrome
Hypertension, Hypothyroidism, Delayed puberty ORPHA:52022
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... ORPHA:231625
Pseudohypoaldosteronism, Type Iie
Hypertension, Pseudohypoaldosteronism OMIM:614496
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Hamme... OMIM:618387
Lipodystrophy, Familial Partial, Type 4
Hypertension, Insulin-resistant diabetes mellitus OMIM:613877
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:369929
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, Hepatomegaly, Ataxia, Hepatosplenomegaly, ... OMIM:603553
Müllerian Aplasia And Hyperandrogenism
Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnorm... ORPHA:247768
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Saccharopinuria
Tremor, Mental deterioration, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abn... ORPHA:3124
Ectopic Aldosterone-Producing Tumor
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Hypertension,... ORPHA:231632
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Pseudohypoaldosteronism, Type Iic
Hypertension, Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine... OMIM:612716
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia,... ORPHA:521406
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... ORPHA:29073
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... ORPHA:435660
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension ORPHA:401945
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Elevated circulating creatine kinase concentration, Tremor, Dementia, Tongue fasciculations, Myoc... OMIM:159950
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decrea... OMIM:614962
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Tremor, Decreased fertility, Calf muscle hype... OMIM:313200
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Hypergonadotropic hypogonadism, Tremor, Elevated circulating phytanic acid concentration,... OMIM:614307
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment, Hyperlysinemia, Anemia OMIM:238700
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... ORPHA:314632
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... OMIM:202010
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... ORPHA:791
Solitary Fibrous Tumor
Hypoglycemia, Vaginal neoplasm, Weight loss, Recurrent hypoglycemia, Prostate cancer, Hypoinsulin... ORPHA:2126
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin... ORPHA:79085
Late-Onset Familial Hypoaldosteronism
Abnormal external genitalia, Abnormal circulating corticosterone level, Elevated serum 11-deoxyco... ORPHA:556037
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... ORPHA:3000
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Depression, Gait ataxia, Irritabi... OMIM:618093
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... ORPHA:435651
Classic Galactosemia
Male infertility, Hepatomegaly, Premature ovarian insufficiency, Ataxia, Cryptorchidism, Secondar... ORPHA:79239
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Early-Onset Familial Hypoaldosteronism
Abnormal external genitalia, Abnormal circulating corticosterone level, Elevated serum 11-deoxyco... ORPHA:556030
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Dystonia 28, Childhood-Onset
Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Cognitive ... OMIM:617284
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Coenzyme Q10 Deficiency, Primary, 9
Short attention span, Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tan... OMIM:619028
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Insul... ORPHA:363400
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Lipodystrophy, Familial Partial, Type 1
Hypertension, Insulin-resistant diabetes mellitus OMIM:608600
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Depression, Irritability,... ORPHA:248111
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Crigler-Najjar Syndrome Type 1
Tremor, Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Pro... ORPHA:79234
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Type I diabetes mellitus, Cryptorchidism, Hypertension ORPHA:1192
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor ... OMIM:208920
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... ORPHA:280679
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Hyperactivity, Broad-based gait, Parkinsonism, Anorexia, A... ORPHA:3077
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dysphagia, Increased circulating very long-chai... OMIM:617916
Manganese Poisoning
Decreased female libido, Postural tremor, Confusion, Akinesia, Aggressive behavior, Hypersexualit... ORPHA:306682
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Obesity, Oligomenorrhea OMIM:604931
Parkinson Disease 14, Autosomal Recessive
Elevated circulating creatine kinase concentration, Tremor, Hand tremor, Loss of ambulation, Eyel... OMIM:612953
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behavi... OMIM:301107
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Rigidity, Tremor, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Mental dete... ORPHA:240085
Progressive Supranuclear Palsy-Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Limb apraxia, Involuntary movements, Tremor, Rigidi... ORPHA:240103
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia, Myo... OMIM:605899
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Hypermanganesemia With Dystonia 2
Elevated circulating creatine kinase concentration, Progressive neurologic deterioration, Tremor,... OMIM:617013
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Restless legs, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Pa... OMIM:616710
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... ORPHA:454887
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... OMIM:604326
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Type II diabetes mellitus, Myocardial infarction OMIM:618620
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cognitive i... ORPHA:98763
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Spastic Paraparesis And Deafness
Tremor, Hypogonadism, Spastic paraparesis OMIM:312910
Coffin-Siris Syndrome 8
Hyperactivity, Inguinal hernia, Aggressive behavior, Cryptorchidism, Self-injurious behavior, Fai... OMIM:618362
Polycystic Kidney Disease 5
Hypertension OMIM:617610
Lopes-Maciel-Rodan Syndrome
Tremor, Unsteady gait, Abnormal pyramidal sign, Small hand, Bruxism, Dysphagia, Bradykinesia, Ank... OMIM:617435
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Ataxia, Tremor, Myoclonus OMIM:616187
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait di... ORPHA:98764
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Decreased circulating beta-2-microglobulin level, B lympho... OMIM:241600
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Permanent atrial fibrillation, Inflammatory arteriopa... ORPHA:31825
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Clumsiness, Stereotypical body rocking, Agitatio... ORPHA:100973
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Ma... ORPHA:324575
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Atypical Rett Syndrome
Restrictive behavior, Dystonia, Involuntary movements, Tremor, Inability to walk, Tongue thrustin... ORPHA:3095
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... OMIM:619405
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Dysphagia, Depression, Gait ataxia, Bradykinesia, Limb... ORPHA:71517
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Hypergonadotropic hypogonadism, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysm... OMIM:617145
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Gait ataxia ORPHA:217012
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic i... OMIM:246200
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub... ORPHA:90795
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia, Pedal edema OMIM:152800
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... OMIM:612965
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, I... OMIM:614298
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... ORPHA:90791
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, A... OMIM:300148
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Tremor, Inability to walk, Eyelid myoclonus, Clumsiness, Hepatosplenomegaly, Myocl... ORPHA:2590
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchidism, Increased... OMIM:614736
Hypoglycemia, Leucine-Induced
Ataxia, Hypoglycemia, Irritability, Hyperinsulinemic hypoglycemia, Spasticity OMIM:240800
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Grange Syndrome
Aortic regurgitation, Hypertension ORPHA:79094
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... OMIM:308700
Hartnup Disorder
Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional l... OMIM:234500
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Dysphagia... OMIM:261640
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Primary Membranoproliferative Glomerulonephritis
Hypertension, Myocardial infarction ORPHA:54370
Slc35A2-Cdg
Increased circulating thyroglobulin level, Camptodactyly of finger, Spastic tetraparesis, Coxa va... ORPHA:356961
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Galactokinase Deficiency
Premature ovarian insufficiency, Small for gestational age, Hypergonadotropic hypogonadism, Hypog... ORPHA:79237
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... OMIM:612736
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Progressive neurologic deterioration, Tremor, Rigidity, Dysphagia, Choreoathetosis, Irr... OMIM:233910
Peripartum Cardiomyopathy
Tachycardia, Diabetes mellitus, Abnormality of thyroid physiology, Right ventricular failure, Car... ORPHA:563
Kallmann Syndrome With Spastic Paraplegia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... OMIM:308750
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... OMIM:616222
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Abnormal repe... OMIM:619470
Lipodystrophy, Familial Partial, Type 6
Hypertension, Diabetes mellitus OMIM:615980
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... OMIM:194072
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Hsd10 Mitochondrial Disease
Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Progressive neurolo... OMIM:300438
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte... ORPHA:77296
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms OMIM:239500
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia OMIM:619651
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Primary amenorrhea, Delayed thelarche, Hyperinsulinemic... OMIM:616033
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke OMIM:615750
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Premature ovarian insufficiency, Postural tremor, Parkinsonism, Action tremor, Dy... OMIM:300623
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Tremor, Rigidity, Splenomegaly, Irritability, Dystonia, Loss of a... OMIM:615010
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... OMIM:171420
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Precocious puberty, Cryptorchidism, Self-biting, Gonadal dysg... ORPHA:3306
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Central Precocious Puberty In Male
Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Attention deficit hy... ORPHA:649929
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... ORPHA:363710
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat... ORPHA:79263
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Micrognathia, Tremor, Choreoathetosis, Male hypogonadism, Ataxia, Parkinsonism, Shuffling gait, B... OMIM:300055
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A... OMIM:309548
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia ORPHA:1116
Paroxysmal Hemicrania
Hypertension, Diabetes mellitus ORPHA:157835
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Short palm, Broad-based gait, Ataxia, Tremor, Small hand, Dysmetria, Gait ataxia, Short foot, Dys... OMIM:610185
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Acute pancreat... OMIM:151660
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hepatomegaly, Hyperactivity, Ataxia, Elevated circulating cre... OMIM:615673
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Spermatogenic Failure 17
Male infertility OMIM:617214
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Babinski sign, Hammertoe, Hypertonia, Steppage gait, Mental deterioration, Spasticity, Pe... OMIM:609260
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98793
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98754
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia OMIM:207731
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Progressive neurologic deterioration, Reactive hypoglycemia, Tremor, Hyperinsulinemia, Agitation,... ORPHA:276608
Endocardial Fibroelastosis
Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,... ORPHA:48818
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Intracranial hemorrhage, Hyper... ORPHA:136
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Apparent Mineralocorticoid Excess
Hypertension, Decreased circulating aldosterone level, Abnormality of circulating cortisol level,... ORPHA:320
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177904
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Neuromuscular dysphagia, Spastic dys... ORPHA:240094
Amed Syndrome, Digenic
Hypoplasia of the uterus, Attention deficit hyperactivity disorder, Failure to thrive, Adrenal hy... OMIM:619151
Huntington Disease-Like 2
Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Dementia, Dystoni... OMIM:606438
Trisomy X
Tremor, Secondary amenorrhea, Depression, Hip dysplasia, Attention deficit hyperactivity disorder... ORPHA:3375
Chédiak-Higashi Syndrome
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... ORPHA:167
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177901
Stiff Skin Syndrome
Hypertension, Type II diabetes mellitus ORPHA:2833
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
X-Linked Charcot-Marie-Tooth Disease Type 3
Equinovarus deformity, Tremor, Abnormal foot morphology, Inability to walk, Hip dysplasia, Gait d... ORPHA:101077
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior, Abnormali... ORPHA:382
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Landau-Kleffner Syndrome
Speech apraxia, Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Slurred sp... ORPHA:98818
Neonatal Hemochromatosis
Hypoglycemia, Micrognathia, Increased circulating ferritin concentration, Congenital hepatic fibr... ORPHA:446
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... ORPHA:251623
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Spasticity OMIM:300983
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Co... OMIM:615157
Sneddon Syndrome
Intracranial hemorrhage, Hypertension ORPHA:820
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Talipes, Elevated circulating creatine kinase concentration, Tremor, Calf muscle h... ORPHA:209335
Senior-Loken Syndrome
Hypertension ORPHA:3156
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoglycemia, Cryptorchidism, Hypoplasia of t... OMIM:607143
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Prolonged QTc interval, Hyp... ORPHA:90065
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Androgen Insensitivity Syndrome
Inguinal hernia, Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina... OMIM:300068
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Riboflavin Transporter Deficiency
Hypertension, Hypogonadism, Diabetes insipidus ORPHA:97229
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Hemiatrophy, Dystonia, Difficulty wa... ORPHA:306669
Aapoaiv Amyloidosis
Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca... ORPHA:439232
Progressive Supranuclear Palsy
Impulsivity, Tremor, Rigidity, Unsteady gait, Dysphagia, Depression, Blepharospasm, Bradykinesia,... ORPHA:683
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... ORPHA:199244
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Neuroferritinopathy
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Palatal tremor, Chorea, Babi... ORPHA:157846
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Combined Oxidative Phosphorylation Deficiency 34
Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulating hormone co... OMIM:617872
Parkinson-Dementia Syndrome
Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia OMIM:260540
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Chorea, Insulin-resistant diabetes mellitus, Diffi... ORPHA:401768
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior, Cryptorchidism, Failure to thrive, Self-mutilation OMIM:604317
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Amyloidosis, Familial Visceral
Hypertension OMIM:105200
Perlman Syndrome
Hypoplasia of penis, Inguinal hernia, Femoral hernia, Cryptorchidism, Abnormal pancreas morpholog... ORPHA:2849
Generalized Epilepsy With Febrile Seizures-Plus
Pes planus, Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive... ORPHA:36387
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... OMIM:256450
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re... OMIM:614473
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglyce... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... OMIM:620211
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... OMIM:606693
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus OMIM:616421
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Dysmenorrhea, Mater... ORPHA:79083
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Depression, Hypertonia, Hyp... OMIM:619738
Spinocerebellar Ataxia With Epilepsy
Progressive neurologic deterioration, Tremor, Dysmetria, Depression, Gait ataxia, Progressive cer... ORPHA:254881
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... ORPHA:892
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Bardet-Biedl Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Pes cavus OMIM:607458
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Depression... OMIM:616795
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Classic Phenylketonuria
Tremor, Paraplegia, Depression, Self-injurious behavior, Hypertonia, Hemiplegia, Attention defici... ORPHA:79254
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Extracranial Carotid Artery Aneurysm
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis ORPHA:494424
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Hyperactivity, Small for gestational age, Cryptorchidism, Abnormal repetitive ma... ORPHA:352490
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Clubbing, Iron deficiency anemia, Clubbing of fingers, Hypoalbuminemia, Thrombocyto... OMIM:226300
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Cerebral hemorrhage, Congestive heart failure, Palpitations, Para... ORPHA:94080
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... ORPHA:206443
Pituitary Stalk Interruption Syndrome
Hypoplasia of penis, Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Cryptorchidis... ORPHA:95496
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Depress... ORPHA:79095
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type ... ORPHA:276575
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Ataxia, Attention deficit hyperactivity disorder OMIM:617113
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Inguinal hernia, Hypospadias, Small for gestational age, Dysmenorrhea, Hypoglycemi... ORPHA:397590
Cln5 Disease
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... ORPHA:228360
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increased body weigh... ORPHA:398069
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Lipodystrophy, Dysm... ORPHA:2348
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Denys-Drash Syndrome
Hypertension ORPHA:220
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Ambiguous genita... ORPHA:90794
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Chorea, Abnormal pyramidal si... ORPHA:500180
Hsd10 Disease
Short attention span, Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Gait disturbance, Myo... ORPHA:391417
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Stiff-Person Syndrome
Hypertension, Tachycardia, Diabetes mellitus OMIM:184850
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic ... OMIM:616719
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Type II diabetes mellitus, Myocardial infarction OMIM:615812
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension OMIM:616069
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... ORPHA:64753
Urocanic Aciduria
Broad-based gait, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal atax... ORPHA:210128
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Global Developmental Delay With Speech And Behavioral Abnormalities
Inguinal hernia, Supernumerary nipple, Precocious puberty, Cryptorchidism, Attention deficit hype... OMIM:619243
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
2P21 Microdeletion Syndrome
Failure to thrive, Hypogonadism, Hypoglycemia ORPHA:163693
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea OMIM:184700
Leptospirosis
Hepatomegaly, Anorexia, Jaundice, Hepatitis, Lymphadenopathy, Hyperproteinemia, Thrombocytopenia ORPHA:509
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Focal Segmental Glomerulosclerosis 1
Hypertension OMIM:603278
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Micrognathia, Splenomegaly, Pancreatic lymphangiectasis, ... OMIM:235255
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Adrenocortical adenoma, Pheochromocytoma,... ORPHA:139411
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Secondary amenorrhea, Premature pubarche OMIM:612847
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Glomus ... OMIM:115310
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Glucose intolerance, Te... OMIM:235200
Pediatric-Onset Graves Disease
Atrial fibrillation, Puberty and gonadal disorders, Congestive heart failure, Thyrotoxicosis with... ORPHA:525731
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure ORPHA:1349
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension OMIM:600666
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism, Impulsivity, Tremor, ... ORPHA:240071
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Prec... ORPHA:813
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Second degree atrioventricular block, Primary hyperaldosteronism, Pulmonary arteria... OMIM:615474
Ataxia With Vitamin E Deficiency
Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy... ORPHA:96
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Anorexia ORPHA:2494
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ... OMIM:620306
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... ORPHA:8
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spasticity, Abnormal ... OMIM:618718
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Falls, Myoclonus, Mental deterioration ORPHA:2382
Hypermanganesemia With Dystonia 1
Hepatomegaly, Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fin... OMIM:613280
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Achilles tendon contracture, Babinski sign, Dysmetria, Hand ... OMIM:302800
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Abnormal lymphatic vessel morphology, Reduced proportion of CD4+ effector me... ORPHA:90362
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Depression, Irritability, Att... OMIM:261600
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia, Rigidity, Inability to walk, Irritability, Athetosis, Gait disturbance, Myoclonus, ... OMIM:618241
Takayasu Arteritis
Myocardial infarction, Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertensi... ORPHA:3287
Sneddon Syndrome
Hypertension, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Acute pancreatitis, Diabetes mellitus, Lipodystrophy, Reduce... OMIM:608594
Usmani-Riazuddin Syndrome, Autosomal Dominant
Pes planus, Hyperactivity, Aggressive behavior, 2-3 toe syndactyly, Depression, Self-injurious be... OMIM:619467
Pituitary Gigantism
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... ORPHA:99725
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Pes cavus, Spastic gait OMIM:600363
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Inherited Creutzfeldt-Jakob Disease
Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr... ORPHA:282166
Stuve-Wiedemann Syndrome 1
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... OMIM:601559
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dementia, Spastic pa... ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity, P... OMIM:213200
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Emotional lability, Depression,... OMIM:137440
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Young-Onset Parkinson Disease
Female sexual dysfunction, Short attention span, Restless legs, Impulsivity, Tremor, Rigidity, De... ORPHA:2828
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Increased circulating free fatt... ORPHA:26793
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... OMIM:610600
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Pes planus, Hyperactivity, Aggressive behavior, Cryptorchidism, Chorea, Un... ORPHA:485350
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension ORPHA:567544
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Micrognathia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary ... ORPHA:1655
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
X-Linked Cerebral Adrenoleukodystrophy
Hoffmann sign, Dysmetria, Male hypogonadism, Hyperactivity, Ataxia, Confusion, Abnormal circulati... ORPHA:139396
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... ORPHA:52368
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Acute pancreatitis, Hypertriglyceridemia, Lipodystrophy, Red... OMIM:269700
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Sp... OMIM:615895
Nephronophthisis 18
Hypertension OMIM:615862
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Neonatal hypoglycemia, Sex reversal, Am... ORPHA:168558
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Neonatal hypogly... ORPHA:289548
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... ORPHA:96184
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairment, Dystonia, Mental... ORPHA:542310
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... OMIM:618187
Postorgasmic Illness Syndrome
Hypertension, Palpitations ORPHA:279947
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Depression, Bradykinesia, Inap... OMIM:168605
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Clonus, Athetosis, Hyperalaninemia OMIM:266150
X-Linked Adrenoleukodystrophy
Hyperactivity, Incoordination, Paralysis, Aggressive behavior, Paraparesis, Progressive spastic p... ORPHA:43
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Absent external genitalia, Adr... OMIM:273395
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis OMIM:301080
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... ORPHA:3411
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia ORPHA:329249
Polyarteritis Nodosa
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension ORPHA:767
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
4H Leukodystrophy
Ataxia, Hypogonadotropic hypogonadism, Tremor, Dysmetria, Dysphagia, Progressive gait ataxia, Dys... ORPHA:289494
Coenzyme Q10 Deficiency, Primary, 8
Hypertension OMIM:616733
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Ankle flexion contractu... OMIM:608799
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Aromatase Deficiency
Macroorchidism, postpubertal, Eunuchoid habitus, Male infertility, Hypergonadotropic hypogonadism... ORPHA:91
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Pes planus, Hyperactivity, Sandal gap, Aggressive behavior, Tremor, Cryptorchidism, Small hand, G... OMIM:300354
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... ORPHA:397946
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation OMIM:173900
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, ... ORPHA:276556
Adult-Onset Distal Myopathy Due To Vcp Mutation
Abnormality of the musculature of the lower limbs, Parkinsonism, Progressive neurologic deteriora... ORPHA:329478
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic... ORPHA:845
Dystonia 28
Precocious puberty, Hypothyroidism, Attention deficit hyperactivity disorder, Dysphagia ORPHA:589618
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Pes cavus, Ataxia, Gait disturbance ORPHA:101075
Arteriosclerosis, Severe Juvenile
Hypertension, Myocardial infarction, Delayed puberty OMIM:208060
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Ochoa Syndrome
Cryptorchidism, Hypertension ORPHA:2704
Behr Syndrome
Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Unsteady gait, Dysmetria, Dysphagia, ... OMIM:210000
Optic Atrophy 11
Hyperactivity, Ataxia, Splenomegaly, Gait apraxia, Dysmetria, Athetosis, Hyperkinetic movements, ... OMIM:617302
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Hypo... ORPHA:73272
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... OMIM:176270
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Pelizaeus-Merzbacher Disease
Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor... OMIM:312080
Oculopharyngodistal Myopathy 3
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Dysphagia OMIM:619473
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Pes planus, Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysme... ORPHA:1170
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Hyperactivity, Aggressive behavior ORPHA:457260
48,Xxyy Syndrome
Pes planus, Ataxia, Hypergonadotropic hypogonadism, Talipes, Tremor, Cryptorchidism, Depression, ... ORPHA:10
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dementia, ... OMIM:300894
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... ORPHA:227510
Coach Syndrome 2
Hypertension OMIM:619111
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Confusion, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubat... OMIM:607483
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Weight loss, Infertility, E... ORPHA:465508
Aarskog-Scott Syndrome
Inguinal hernia, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypto... OMIM:305400
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia, Hepatomegaly ORPHA:99828
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... OMIM:128100
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Familial Cerebral Saccular Aneurysm
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage ORPHA:231160
Ataxia-Telangiectasia
Diabetes mellitus, Ataxia, Abnormal testis morphology, Tremor, Gait disturbance, Type II diabetes... ORPHA:100
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Impulsivity, Tremor, Rigidity, Unstea... ORPHA:442835
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
X-Linked Acrogigantism
Enlarged pituitary gland, Increased body mass index, Decreased thyroid-stimulating hormone level,... ORPHA:300373
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Ataxia, Arachnodactyly, Tremor, Abnormal repetitive mannerisms, Gait ataxia, Hyperton... OMIM:619092
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, M... ORPHA:90790
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclo... ORPHA:139485
Neuronal Intranuclear Inclusion Disease
Ataxia, Tremor, Rigidity, Dementia, Gait disturbance, Cognitive impairment OMIM:603472
Spinocerebellar Ataxia 23
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia OMIM:610245
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Congestive he... ORPHA:276621
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... OMIM:171300
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... ORPHA:562
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Metrorrhagia, Anorexia, Precocious puberty, Ovarian neoplasm, Weight lo... ORPHA:370348
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension OMIM:166300
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Obesity, Congenital hypothyroidism OMIM:614613
Pituitary Adenoma 4, Acth-Secreting
Hypertension, Pituitary adenoma, Increased circulating ACTH level OMIM:219090
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor, Elevated circulating creatine kinase concentration, Dysphagia OMIM:619790
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Hyperactivity, Aggressive behavior, Decreased body weight OMIM:300958
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Progressive neurologic deterioration, Tremor, Abnormal circulating fatty-acid conce... ORPHA:263455
Charcot-Marie-Tooth Disease And Deafness
Tremor, Split hand, Talipes calcaneovalgus, Hammertoe, Steppage gait, Gait disturbance, Pes cavus OMIM:118300
Acquired Generalized Lipodystrophy
Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance... ORPHA:79086
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Dysphagia OMIM:618637
Septopreoptic Holoprosencephaly
Impulsivity, Precocious puberty, Dysphagia, Anterior hypopituitarism, Central diabetes insipidus ORPHA:280195
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... OMIM:610217
Johanson-Blizzard Syndrome
Diabetes mellitus, Abnormality of the pancreas, Hypoproteinemia, Anemia, Exocrine pancreatic insu... ORPHA:2315
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Tremor, Babinski sign, Slurred speech, Unsteady gait, Leg muscle stiffness, Clums... ORPHA:137898
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension OMIM:618061
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentration, Dysmetria, Oculo... OMIM:614867
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Pes cavus, Ataxia, Gait disturbance ORPHA:101078
Myotonic Dystrophy 1
Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy OMIM:160900
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Myopathy, Mitochondrial, And Ataxia
Ataxia, Elevated circulating creatine kinase concentration, Micrognathia, Tremor, Inability to wa... OMIM:617675
Intellectual Developmental Disorder, Autosomal Dominant 45
Pes planus, Hyperactivity, Cerebral palsy, Arachnodactyly, Chorea, Myoclonus, Attention deficit h... OMIM:617600
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... OMIM:201810
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Congenital Analbuminemia
Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hyp... ORPHA:86816
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose tolerance, Precocious pub... ORPHA:769
Fabry Disease
Transient ischemic attack, Angina pectoris, Myocardial infarction, Congestive heart failure, Hype... OMIM:301500
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable response t... ORPHA:199351
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Hereditary Pheochromocytoma-Paraganglioma
Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, C... ORPHA:29072
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Sandal gap, Aggressive behavior, Unsteady gait, Diminished ability to concentrate,... OMIM:615516
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidis... OMIM:616113
Monosomy 18P
Hypertension, Hypothyroidism ORPHA:1598
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension, Hypothyroidism OMIM:617763
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... OMIM:251230
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia OMIM:613870
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit hyperactivity disorder, Hyperi... ORPHA:35878
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Femoral-Facial Syndrome
Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Coxa vara, Abnormal fibula morpholo... ORPHA:1988
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Hypogonadotropic hypogonadism, Tremor, Babinski sign, Dysmetria, Dysphag... OMIM:607694
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Chorea, Hypertonia, ... ORPHA:2388
Cystathioninuria
Cystathioninemia, Talipes equinovarus, Tremor ORPHA:212
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... ORPHA:85327
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... ORPHA:1578
Juvenile Paget Disease
Hypertension ORPHA:2801
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Testicular atrophy, Congenital diaphragmatic hernia OMIM:601163
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Nephroblastoma
Hypertension ORPHA:654
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Self-mutilation, Depression, Hip dysplasia, Hyperkinetic movements, Upper limb spasticity... ORPHA:457240
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Postaxial polydactyly, Abnormal eating behavior, Tremor, Poor coordination, Obsessive-com... ORPHA:544254
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Oromandibular dystonia, Dysmetria, Gait ataxia, Chore... ORPHA:101
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia ORPHA:369873
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Bent Bone Dysplasia Syndrome 2
Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short ste... OMIM:620076
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
C3 Glomerulopathy
Hypertension ORPHA:329918
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Leg muscle stiffness, Dysp... OMIM:615530
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, Self-injurious ... OMIM:620023
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... OMIM:614831
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Sandal gap, Cryptorchidism, Polyphagia, Self-injurious behavior, Hip dyspl... ORPHA:228402
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Severe temper tantrums, Hypoglycemia, Aggressive behavior, Tremor, Spastic tetraplegia, D... OMIM:617710
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... OMIM:234200
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Overlap Myositis
Raynaud phenomenon, Hypertension, Diabetes mellitus, Pulmonary arterial hypertension ORPHA:206572
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Diabetes mellitus, Hyperthyroidism, Hypothyroidism, Hypertension ORPHA:449291
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Spastic tetraparesis, Imp... ORPHA:35069
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Impaired glucose tolerance, Maturity-onset diabetes of the young,... OMIM:137920
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Dysphagia, Depression, Bradykinesia, Dementia, Gait distu... OMIM:168601
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
19P13.12 Microdeletion Syndrome
Hyperactivity, Hypospadias, Precocious puberty, Cryptorchidism, Hyperlipidemia, Obesity, Self-inj... ORPHA:254346
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Atrioventricular block, Polycystic ovaries, Hypertension, Type I diabetes me... ORPHA:371428
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Intellectual Disability-Strabismus Syndrome
Failure to thrive, Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response ... ORPHA:363528
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Diabetes mellitus, Hypertension ORPHA:69663
Fragile X Syndrome
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand flapping, Congenital mac... OMIM:300624
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Seckel Syndrome 10
Diabetes mellitus, Elevated circulating luteinizing hormone level, Congestive heart failure, Hype... OMIM:617253
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cognitive impairment, Dystonia... ORPHA:70594
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Abnormality of the ovary, ... OMIM:209900
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxi... OMIM:616300
Cryoglobulinemia, Familial Mixed
Hypertension OMIM:123550
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Exocrine pancreatic insufficiency OMIM:260450
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Iliac crest serration, Rhizomelia, Hypoplasia... ORPHA:239
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Dysmenorrhea, Irregular menstruation, Increased body weight, ... ORPHA:264580
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia, Attention deficit hyperactivity disorder OMIM:617914
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty, Failure to thrive ORPHA:293181
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Hypoplasia of penis, Hyperactivity, Camptodactyly of finger, Cachexia, Aggressiv... ORPHA:85293
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Dysphagia, Depression, Bradykinesia, Dementia, Dy... OMIM:168600
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia OMIM:219250
Ataxia-Telangiectasia
Tremor, Choreoathetosis, Glucose intolerance, T lymphocytopenia, Hypoplasia of the thymus, Intent... OMIM:208900
Caudal Regression Syndrome
Cryptorchidism, Hypertension, Maternal diabetes ORPHA:3027
Fanconi Renotubular Syndrome 5
Hypertension OMIM:618913
Nephronophthisis 2
Hypertension, Pulmonary insufficiency OMIM:602088
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity OMIM:300143
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Tremor, Paraparesis, Gait disturbance, Pes cavus ORPHA:99014
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Hepatomegaly, Cerebral palsy, Ataxia, Hyperactivity, Aggressive behavior, ... ORPHA:163681
Fg Syndrome 3
Hyperactivity, Cryptorchidism, Joint contracture OMIM:300406
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... OMIM:606002
Heme Oxygenase 1 Deficiency
Hypertension, Epistaxis, Diffuse alveolar hemorrhage OMIM:614034
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Dysphagia, Hypothyroidism, Testicular atrophy OMIM:222300
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
13Q12.3 Microdeletion Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Camptodactyly, Failure t... ORPHA:412035
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Obesity OMIM:620195
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Short attention span, Hyperactivity, Broad-based gait, Ataxia, ... ORPHA:98794
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... ORPHA:247691
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Hypogonadism, Adrenal insufficiency, Micropen... OMIM:617575
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... OMIM:618877
Mohr-Tranebjaerg Syndrome
Dystonia, Tremor, Dysphagia, Mental deterioration, Spasticity OMIM:304700
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Hip dislocation, Dysmetri... OMIM:614381
Liver Disease, Severe Congenital
Micrognathia, Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron... OMIM:619991
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... ORPHA:1359
Meckel Syndrome 12
Hypoplasia of the uterus, Arthrogryposis multiplex congenita, Vaginal atresia OMIM:616258
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hor... OMIM:242900
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Myoectodermal Gonadal Dysgenesis Syndrome
Omphalocele, Small for gestational age, Elevated circulating luteinizing hormone level, Hypoplasi... OMIM:618419
Mirage Syndrome
Hyponatremia, Hypergonadotropic hypogonadism, Rocker bottom foot, Hypoglycemia, Thrombocytopenia,... OMIM:617053
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Cryptorchidism, Labial hypoplasia, Attention deficit hyperactivity disorder, ... OMIM:620073
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Leprechaunism
Reduced subcutaneous adipose tissue, Enlarged ovaries, Overgrowth of external genitalia, Labial h... ORPHA:508
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Chorea, Athetosis, Hypertonia... ORPHA:52503
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Pes planus, Hypercalcemia, Micrognathia, Tremor, Unilateral radial aplasia, Tapered finger, Parti... ORPHA:476126
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Abnormal central motor function, Hypouricemia, Ataxia, Cerebral pals... ORPHA:760
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... OMIM:608768
49,Xxxxy Syndrome
Pes planus, Down-sloping shoulders, Coxa valga, Tremor, Cryptorchidism, Hip dislocation, Irritabi... ORPHA:96264
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty, Abnormal repetitive mannerisms OMIM:619877
48,Xxxy Syndrome
Pes planus, Down-sloping shoulders, Coxa valga, Tremor, Cryptorchidism, Hip dislocation, Irritabi... ORPHA:96263
Werner Syndrome
Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Ovarian neoplasm, Hy... ORPHA:902
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Impulsivity, Akinesia, Rigidity, Dysphagia, Depression, Bradykinesi... ORPHA:411602
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... ORPHA:758
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation... ORPHA:309854
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Hypertension OMIM:301050
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tapered finger, Tremor, Babinski sign, Dysmetria, Gait ataxia, Hypertonia, Steppage gait,... OMIM:616505
Gaucher Disease, Type I
Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten... OMIM:230800
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Alagille Syndrome 2
Hypertension, Pulmonic stenosis OMIM:610205
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Irritability, Decreased serum zinc, Hypogonadism, Emo... OMIM:201100
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, 2-3 toe cutaneous syndactyly... OMIM:620242
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Cyanosis, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormo... OMIM:250790
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Renal Hypodysplasia/Aplasia 1
Hypertension OMIM:191830
Intellectual Developmental Disorder, X-Linked 12
Tremor, Cryptorchidism, Depression, Hyperkinetic movements, Gait disturbance, Spasticity, Hip sub... OMIM:300957
Infant Botulism
Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypertension, Hyperaldosteronism, Increased circulating renin level OMIM:612780
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Hypertension, Pheochromocytoma, Paraganglioma OMIM:193300
Myoclonic-Astatic Epilepsy
Syndactyly, Hyperactivity, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Abnormal emoti... ORPHA:1942
19P13.3 Microduplication Syndrome
Precocious puberty, Self-injurious behavior, Hyperactivity, Unilateral cryptorchidism ORPHA:447980
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Micrognathia, Tibial bowing, Hypoplastic iliac wing, Hepatoblastoma, Small proximal tibial epiphy... ORPHA:96334
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... ORPHA:56305
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Obsessive-compulsive trait, Dement... ORPHA:168491
Basilicata-Akhtar Syndrome
Precocious puberty, Neonatal hypoglycemia, Camptodactyly OMIM:301032
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele, Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Uro... OMIM:618820
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension, Hypothyroidism ORPHA:98808
Perry Syndrome
Parkinsonism, Tremor, Depression, Dementia, Abnormality of extrapyramidal motor function ORPHA:178509
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension OMIM:617021
Spastic Paraplegia 29, Autosomal Dominant
Lower limb spasticity, Hyperactivity, Clonus, Babinski sign, Spastic paraplegia, Upper limb spast... OMIM:609727
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Structural foot deformity, Vocal cord paralysis, Dysphagia, Mildly elevated creatine kinase ORPHA:397744
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Hypergonadotropic hypog... OMIM:607426
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Hyperammonemia, Cholestasis, Irrit... OMIM:207800
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Incoordination, Ataxia, Clonus, Elevated circulating creatine kinase concentration, Involuntary m... ORPHA:480864
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia,... OMIM:254900
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment OMIM:607876
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At... ORPHA:99027
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Microphthalmia, Syndromic 9
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Hypoplasia of the uterus, Bicor... OMIM:601186
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty, Head-banging OMIM:619356
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal ... ORPHA:646
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage OMIM:618886
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Paternal Uniparental Disomy Of Chromosome 1
Hypertension, Delayed puberty ORPHA:251004
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... ORPHA:79644
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension OMIM:613320
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Micrognathia, Tremor, Dysmetria, Depression, Primary amenorrhea, Progressive cerebellar ataxia, D... ORPHA:502423
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Restlessness, Brachydactyly, Hyperactivity, Micrognathia, Aggressive behavior, Cryptorchidism, Ba... OMIM:300534
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:615866
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Polyminimyoclonus, Impaired tandem gait, Areflexia of lower limbs, Clubbing of fingers, F... OMIM:619574
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Lead Poisoning
Hypertension, Decreased circulating osteocalcin level, Delayed puberty ORPHA:330015
Acromelic Frontonasal Dysostosis
Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,... OMIM:603671
Porphyria Variegata
Inappropriate antidiuretic hormone secretion, Hypertension, Tachycardia ORPHA:79473
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Hepatomegaly, Waddling gait, Dystonia, Ataxia, Elevated circulating creatine kina... OMIM:615356
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Abnormality of thyroid physiology, Congestive heart failure, Hypertens... ORPHA:1830
Livedoid Vasculopathy
Diabetes mellitus, Telangiectasia of the skin, Hypertension, Ischemic stroke, Graves disease ORPHA:542643
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Ollier Disease
Precocious puberty ORPHA:296
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Dysphagia, Athetosis, Dement... ORPHA:25
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Anorexia, Increa... ORPHA:85138
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Abnormal repetitive manne... ORPHA:819
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Rocker bottom foot, Dysphagia, Hypoplastic spleen, Adducted thumb ORPHA:89844
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Pr... ORPHA:96182
Pyruvate Carboxylase Deficiency
Anorexia, Tremor, Abnormal pyramidal sign, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia,... ORPHA:3008
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia, Hyperammonemia ORPHA:664
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Hypertension OMIM:613159
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension OMIM:612924
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Crypto... OMIM:258315
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
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Arterial Calcification, Generalized, Of Infancy, 1
Hypertension, Dilated cardiomyopathy, Congestive heart failure, Myocardial infarction OMIM:208000
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Stankiewicz-Isidor Syndrome
Hyperactivity, Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis OMIM:617516
Cirrhosis, Familial
Hypertension, Pulmonary arterial hypertension OMIM:215600
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:91355
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Ataxia, Hypouricemia, Increased circulating guanosine concentration,... OMIM:613179
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Clonus, Elevated circulating creatine kinase concentration, Oral-pharyngeal dysphagia, El... OMIM:616878
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Leopard Syndrome 1
Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the ovary, Mic... OMIM:151100
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypothyroidism, Hypotension ORPHA:93256
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Parathyr... ORPHA:653
Optic Pathway Glioma
Precocious puberty ORPHA:2086
Woolly Hair Nevus
Precocious puberty ORPHA:79414
Nestor-Guillermo Progeria Syndrome
Decreased serum leptin, Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary ... OMIM:614008
Spondyloenchondrodysplasia
Decreased response to growth hormone stimulation test, Raynaud phenomenon, Vasculitis, Hypertensi... ORPHA:1855
Alport Syndrome 2, Autosomal Recessive
Hypertension OMIM:203780
Aicardi-Goutieres Syndrome 9
Pericarditis, Portal hypertension, Hypertension, Increased blood pressure, Hypothyroidism OMIM:619487
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor... OMIM:263520
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic ... OMIM:617925
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Hypoplasia of the uterus, Chordee, Micro... OMIM:309801
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Oculom... OMIM:618060
Atypical Werner Syndrome
Fasting hyperinsulinemia, Hyperglycemia, Premature ovarian insufficiency, Abnormal circulating le... ORPHA:79474
Alagille Syndrome
Telangiectasia of the skin, Cryptorchidism, Hypertension, Delayed puberty ORPHA:52
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Primary testicular failure, Congestive heart failure, Hypertension, ... ORPHA:85450
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension OMIM:612925
Kleefstra Syndrome Due To A Point Mutation
Inguinal hernia, Large for gestational age, Precocious puberty, Self-injurious behavior, Umbilica... ORPHA:261652
Nephronophthisis 1
Hypertension OMIM:256100
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Hypertension, Pituitary growth hormone cell adenoma ORPHA:730
Angelman Syndrome
Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel... ORPHA:72
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Confusion, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Impoten... OMIM:105210
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hepatocellular carcinoma, Tremor, Hand tremor,... OMIM:277900
Adenine Phosphoribosyltransferase Deficiency
Hypertension, Atrial fibrillation ORPHA:976
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial infarction, Congestive... ORPHA:183
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
9P13 Microdeletion Syndrome
External genital hypoplasia, Precocious puberty, Attention deficit hyperactivity disorder, Bruxis... ORPHA:324313
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu... ORPHA:79443
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Pulmonary carcinoid tumor, Intracranial hemorrhage, Hypertension, Mitra... ORPHA:363618
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Rhizomelia, Neonatal hypoglycemia, Micrognathia, Tremor, Neutropenia, Opisthotonus, Chore... OMIM:616271
Microphthalmia With Limb Anomalies
Toe syndactyly, Unilateral cryptorchidism, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous ... OMIM:206920
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi... OMIM:618056
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosi... OMIM:613027
Hyperlysinemia
Short attention span, Neck hypertonia, Hyperactivity, Poor motor coordination, Spastic tetrapares... ORPHA:2203
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Hyperbilir... ORPHA:713
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Interstitial Cystitis
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... ORPHA:37202
Methylcobalamin Deficiency Type Cble
Hypertension ORPHA:2169
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Torticollis, Hemidystonia, Tapered finger, Tremor, Aggressive behavior, Attention... OMIM:619680
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hy... ORPHA:2495
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Metaphyseal chondrodysplasia, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait distu... ORPHA:83629
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Primary Progressive Freezing Gait
Hypertension ORPHA:75567
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Precocious puberty, Obesity, Attention deficit hyperactivity di... OMIM:619312
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypertension OMIM:613095
8P Inverted Duplication/Deletion Syndrome
Impulsivity, Precocious puberty, Cryptorchidism, Contractures of the large joints, Aplasia/Hypopl... ORPHA:96092
Alexander Disease
Diabetes mellitus, Sudden cardiac death, Precocious puberty, Hypertension, Hypotension, Hypothyro... ORPHA:58
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insufficiency, Hypogl... ORPHA:199299
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Micropenis, Decreased testicular... OMIM:619321
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Migraine, Familial Hemiplegic, 2
Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Aortic Arch Interruption
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... ORPHA:2299
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Coach Syndrome 1
Hypertension, Portal hypertension OMIM:216360
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Diabetes mellitus, Ataxia, Elevated circulating creatine kinase concentration, Tr... ORPHA:254892
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hypertension, Portal hypertension, Hematemesis OMIM:263200
Wagro Syndrome
Hypertension, Decreased testicular size OMIM:612469
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Tremor, Babinski sign, 2-3 toe syndactyly, Irritability, Glucose intoler... OMIM:616539
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hypertension OMIM:619758
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,... OMIM:616586
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension OMIM:614424
Gracile Bone Dysplasia
Asplenia, Flared metaphysis, Slender long bone, Hypocalcemia, Hypoplastic spleen, Brachydactyly OMIM:602361
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Birk-Landau-Perez Syndrome
Hypertension OMIM:617595
Scalp-Ear-Nipple Syndrome
Type I diabetes mellitus, Hypertension, Breast aplasia ORPHA:2036
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... OMIM:185070
Neuroblastoma, Susceptibility To, 1
Hypertension OMIM:256700
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Glycogen Storage Disease Ia
Hypertension, Delayed puberty OMIM:232200
Carpenter Syndrome 1
Omphalocele, External genital hypoplasia, Precocious puberty, Cryptorchidism, Obesity, Camptodact... OMIM:201000
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... ORPHA:324
Diffuse Cutaneous Systemic Sclerosis
Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hypertension, Hypertensi... ORPHA:220393
Multisystemic Smooth Muscle Dysfunction Syndrome
Cryptorchidism, Hypertension, Pulmonary arterial hypertension OMIM:613834
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Neonatal hypoglycemia, Aggressive behavior, Tremor, Positional foot deformity, Spastic te... ORPHA:572798
Alg9-Cdg
Omphalocele, Lipodystrophy, Bicornuate uterus, Hypoplasia of the ovary, Hypoplastic nipples ORPHA:79328
Renal Hypoplasia, Bilateral
Cryptorchidism, Hypertension ORPHA:97362
Acute Interstitial Pneumonia
Hypertension ORPHA:79126
Glycogen Storage Disease Ib
Hypertension, Pancreatic fibrosis, Delayed puberty OMIM:232220
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... OMIM:608747
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Cryptorchidism, Hypertrophic cardiomyopathy, Hypertension, Arrhythmia OMIM:614052
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... ORPHA:91139
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Alternating Hemiplegia Of Childhood
Skewfoot, Ataxia, Progressive neurologic deterioration, Anorexia, Tremor, Rigidity, Chorea, Episo... ORPHA:2131
Brain-Lung-Thyroid Syndrome
Short attention span, Hyperactivity, Dystonia, Ataxia, Incoordination, Involuntary movements, Abn... ORPHA:209905
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hem... ORPHA:512
Sickle Cell Disease
Cholelithiasis, Hypertension OMIM:603903
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:248370
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Igg4-Related Retroperitoneal Fibrosis
Renovascular hypertension, Large vessel vasculitis, Hydrocele testis, Hypertension, Budd-Chiari s... ORPHA:49041
Tick-Borne Encephalitis
Speech apraxia, Incoordination, Elevated circulating C-reactive protein concentration, Paralysis,... ORPHA:297
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Tachycardia OMIM:223900
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... OMIM:146255
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hemoperitoneum, Bra... ORPHA:99827
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... ORPHA:314769
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Small for gestationa... OMIM:609152
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... ORPHA:31826
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Bradykinesia... OMIM:601104
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Hypertension ORPHA:1555
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hashimoto thyr... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hashimoto thyr... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hashimoto thyr... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hashimoto thyr... ORPHA:881
Occipital Horn Syndrome
Coxa vara, Humerus varus, Short palm, Large iliac wing, Aplastic clavicle, Hepatitis, Abnormal pu... ORPHA:198
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bowing of the long bones, Ataxia, Tremor, Thrombocytopenia, Metaphyseal sclerosis, Abnormal pyram... OMIM:612199
Paternal Uniparental Disomy Of Chromosome 6
Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, Labial hypertro... ORPHA:96191
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Portal hypertension, Raynaud phenomenon, Dilated cardiomyopathy, Vasculitis, Hypertension, Type I... OMIM:615688
Bainbridge-Ropers Syndrome
Supernumerary nipple, Precocious puberty, Cryptorchidism, Contracture of the proximal interphalan... OMIM:615485
Japanese Encephalitis
Hyponatremia, Dystonia, Weakness due to upper motor neuron dysfunction, Neutrophilia, Genu recurv... ORPHA:79139
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Beta-Ketothiolase Deficiency
Hypertension, Hypotension ORPHA:134
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Irregular menstruation, Thyroiditis, Hypoglyc... ORPHA:79259
Renal Hypoplasia
Hypertension ORPHA:93101
Cockayne Syndrome Type 1
Male hypogonadism, Hypertension, Cryptorchidism ORPHA:90321
Myhre Syndrome
Abnormal penis morphology, Inguinal hernia, Hypospadias, External genital hypoplasia, Femoral her... ORPHA:2588
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubine... OMIM:208500
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Lower limb hypertonia, Dement... ORPHA:447753
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Poliomyelitis
Hypertension, Hypovolemic shock, Hypotension ORPHA:2912
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Phakomatosis Pigmentokeratotica
Precocious puberty, Cryptorchidism, Pheochromocytoma, Hyperhidrosis ORPHA:2874
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypertension, Hypotension OMIM:174000
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Flexion contracture, Hyperinsulinemia, D... OMIM:613327
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Confusion, Tremor, Jaundice, Schistocytosis, Elevated circulating creatinine con... OMIM:274150
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... ORPHA:963
Glycogen Storage Disease Ic
Hypertension, Pulmonary arterial hypertension, Spider hemangioma, Delayed puberty OMIM:232240
Aorta Coarctation
Congestive heart failure, Hypertension, Pulmonary arterial hypertension ORPHA:1457
Omodysplasia 2
Dyspareunia, Short humerus, Micrognathia, Cryptorchidism, Fibular hypoplasia, Hypoplastic distal ... OMIM:164745
Familial Dysautonomia
Hypertension, Orthostatic hypotension, Tachycardia ORPHA:1764
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... OMIM:164900
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... ORPHA:3342
Neuroleptic Malignant Syndrome
Hyponatremia, Extrapyramidal muscular rigidity, Elevated circulating creatine kinase concentratio... ORPHA:94093
Gabriele-De Vries Syndrome
Hallux valgus, Waddling gait, Sandal gap, Micrognathia, Tremor, Cryptorchidism, Long fingers, Tip... OMIM:617557
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Hypertension, Pulmonary embolism ORPHA:567546
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Abnormality of female external genitalia, Truncal obesity, Attention deficit ... ORPHA:2637
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension OMIM:235400
Arterial Tortuosity Syndrome
Aortic regurgitation, Hypertension, Ischemic stroke, Aortic valve stenosis, Telangiectases of the... OMIM:208050
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Familial Bicuspid Aortic Valve
Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur ORPHA:402075
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l... ORPHA:91387
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Bartter Syndrome Type 4
Hypertension, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating ren... ORPHA:89938
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval OMIM:614947
Intrahepatic Cholestasis Of Pregnancy
Tremor, Abnormality of the pancreas, Jaundice, Depression, Cholecystitis, Increased serum bile ac... ORPHA:69665
Apert Syndrome
Hypertension, Ovarian neoplasm ORPHA:87
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Male infertility OMIM:618948
Tuberous Sclerosis 1
Dental enamel pits, Precocious puberty, Adenoma sebaceum, Attention deficit hyperactivity disorde... OMIM:191100
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Renal Agenesis
Hypertension ORPHA:411709
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... OMIM:131100
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Tremor, Hepatomegaly, Elevated circulating creatine kinase concentration, Clonus OMIM:619424
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Progressive neurologic deterioration, Tremor, Rigidity, Dementia, Hypertonia, Spasticity OMIM:176500
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Hypertension, Pheochromoc... ORPHA:805
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... ORPHA:958
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension OMIM:616914
Pearson Syndrome
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... ORPHA:699
Neurofibromatosis, Type I
Parathyroid adenoma, Hypertension, Pheochromocytoma OMIM:162200
Lesch-Nyhan Syndrome
Self-injurious behavior, Testicular atrophy, Dysphagia OMIM:300322
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Hypokalemia, Periodic paralysis OMIM:613239
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Kallmann Syndrome
Dyspareunia, Pes planus, Hypogonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Decreased... ORPHA:478
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Posterior Urethral Valve
Hypertension ORPHA:93110
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypoglycemia, Aggressive behavior, Precocious puberty, Obesity, Umbilical hernia, Cholelithiasis,... OMIM:301066
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Impotence, Cognitive impairment OMIM:146500
Xfe Progeroid Syndrome
Hypertension OMIM:610965
Schinzel-Giedion Syndrome
Inguinal hernia, Streak ovary, Hypospadias, Failure to thrive in infancy, Dysphagia, Micropenis, ... ORPHA:798
Classic Homocystinuria
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... ORPHA:394
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... ORPHA:340
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypospadias, Precocious puberty, Truncal obesity, Type II diabetes mellitus, Enamel hypoplasia OMIM:210720
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Type I diabetes mellitus, Dentinogenesis imperfecta, Obesity OMIM:619269
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Chronic... OMIM:307030
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Alport Syndrome 3A, Autosomal Dominant
Hypertension OMIM:104200
Aicardi-Goutieres Syndrome 7
Hematemesis, Vasculitis, Hematochezia, Hypertension, Hypertrophic cardiomyopathy, Hypothyroidism OMIM:615846
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... OMIM:600376
Hurler Syndrome
Cardiomyopathy, Hypertension, Angina pectoris ORPHA:93473
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm OMIM:613807
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... ORPHA:424
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Jaundice, Unsteady ... OMIM:615512
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, H... OMIM:610505
Galloway-Mowat Syndrome 3
Hypertension OMIM:617729
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertension, Diabetes mellitus, Hypertensive crisis ORPHA:544482
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... ORPHA:1788
Denys-Drash Syndrome
Hypertension, Ovarian gonadoblastoma OMIM:194080
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Retrograde ejaculation, Hyperinsulinemia, Hypoglycemia ORPHA:230
Oligomeganephronia
Hypertension ORPHA:2260
Papillorenal Syndrome
Hypertension OMIM:120330
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Abnormal dense granules, Tremor,... OMIM:214500
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Hallermann-Streiff Syndrome
Cryptorchidism, Hypertension, Pulmonary arterial hypertension, Telangiectasia OMIM:234100
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Acute Intermittent Porphyria
Hypertension, Tachycardia ORPHA:79276
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension OMIM:123790
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Female hypogonadism, Mitral stenosis, Decreased serum leptin, Angina pector... ORPHA:740
Tibial Hemimelia
Absent tibia OMIM:275220
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Acromelic Frontonasal Dysplasia
Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, Aplasia/Hypo... ORPHA:1827
Carey-Fineman-Ziter Syndrome
Hypertensive crisis ORPHA:1358
Tuberous Sclerosis 2
Precocious puberty, Adenoma sebaceum, Attention deficit hyperactivity disorder, Hypothyroidism, S... OMIM:613254
Pierson Syndrome
Hypoproteinemia OMIM:609049
Alkaptonuria
Hypertension, Myocardial infarction ORPHA:56
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Male infertility, Diabetes mellitus, Progressive neurologic deteriora... OMIM:219800
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Congenital diaphragmatic hernia, Precocious puberty, Cryptorchi... ORPHA:2322
Hydrolethalus Syndrome 1
Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... OMIM:236680
Blau Syndrome
Hypertension, Pericarditis OMIM:186580
Hardikar Syndrome
Decreased serum insulin-like growth factor 1, Portal hypertension, Hematemesis, Hypertension, Bil... OMIM:301068
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... ORPHA:672
Senior-Boichis Syndrome
Hypertension, Portal hypertension ORPHA:84081
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Impulsivity, Precocious puberty, Agitation, Attention defici... OMIM:619950
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Peters Plus Syndrome
Inguinal hernia, Hypospadias, Cryptorchidism, Congenital hypothyroidism, Hypoplasia of the uterus... ORPHA:709
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Rectovaginal fistula OMIM:608980
Familial Osteodysplasia, Anderson Type
Hypertension ORPHA:2769
Early Infantile Epileptic Encephalopathy
Hyperactivity, Precocious puberty, Self-injurious behavior, Umbilical hernia, Micropenis, Failure... ORPHA:1934
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty OMIM:163200
Au-Kline Syndrome
Cryptorchidism, Hypertension, Supernumerary nipple OMIM:616580
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Tetraplegia, R... ORPHA:79102
Ciliary Dyskinesia, Primary, 18
Male infertility, Abdominal situs ambiguus, Immotile sperm OMIM:614874
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... ORPHA:2879
African Trypanosomiasis
Abnormality of the menstrual cycle, Abnormality of the endocrine system, Narcolepsy, Aggressive b... ORPHA:3385
Alport Syndrome
Hypertension ORPHA:63
Postinfectious Vasculitis
Cerebral vasculitis, Orchitis, Raynaud phenomenon, Cardiomyopathy, Hypertension, Ischemic stroke,... ORPHA:48435
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Cryptorchidism, Abnormal repetitive mannerisms, Hiatus hernia OMIM:616682
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Clubbing of fingers, Extrahepatic portal hypertension, Hepatic arteriov... ORPHA:2929
Cockayne Syndrome A
Cryptorchidism, Hypertension, Thymic hormone decreased, Hypogonadism, Arrhythmia OMIM:216400
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... OMIM:200980
Hunter-Macdonald Syndrome
Aortic regurgitation, Hypertension, Mitral regurgitation OMIM:611962
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypertension, Myocardial infarction ORPHA:90038
Marshall-Smith Syndrome
Bilateral cryptorchidism, Cryptorchidism, Premature ventricular contraction, Hypertension, Pulmon... OMIM:602535
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Hyperactivity, Small scrotum, Hypospadias, Septate vagina, Aggressive behavior, Pr... OMIM:270400
Adams-Oliver Syndrome 1
Supernumerary nipple, Hypertension, Pulmonic stenosis, Pulmonary arterial hypertension, Aortic va... OMIM:100300
Legius Syndrome
Hyperactivity, Ovarian neoplasm, Multiple lipomas, Xanthelasma, Male urethral meatus stenosis, At... ORPHA:137605
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryp... OMIM:227650
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Cryptorchidism, Abnormality of the Leydig cells, Camptodactyly, Testicular atrophy ORPHA:3063
Neurofibromatosis Type 1
Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Hypertension, Pheochromo... ORPHA:636
Orofaciodigital Syndrome I
Pancreatic cysts, Ovarian cyst, Hypertension OMIM:311200
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Hypertension, Breast aplasia, Congestive heart failure OMIM:181270
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypertension OMIM:617913
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Clubbing, Polysplenia, Abnormal sperm motility ORPHA:244
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Precocious puberty, Renovascular hypertension, Glomus jugular tumor, ... ORPHA:97685
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Campomelic Dysplasia
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... ORPHA:140
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Small fo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Small fo... ORPHA:363958
Tolchin-Le Caignec Syndrome
Precocious puberty, Umbilical hernia, Attention deficit hyperactivity disorder OMIM:618971
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Hypoplasia of the ut... OMIM:261540
Lipodystrophy, Familial Partial, Type 7
Type I diabetes mellitus, Hypertension, Orthostatic hypotension, Pulmonary arterial hypertension OMIM:606721
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Floating-Harbor Syndrome
Restlessness, Hypospadias, Small for gestational age, Impulsivity, Aggressive behavior, Precociou... ORPHA:2044
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Cockayne Syndrome
Diabetes mellitus, Cryptorchidism, Retinal hemorrhage, Absence of pubertal development, Hypertens... ORPHA:191
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Hypertriglyceridemia, Obesity ORPHA:369837
Orofaciodigital Syndrome Type 1
Pancreatic cysts, Hypertension ORPHA:2750
Acute Transverse Myelitis
Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage ORPHA:139417
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Charge Syndrome
Hypoplasia of the ulna, Hypogonadotropic hypogonadism, Down-sloping shoulders, Micrognathia, Abse... OMIM:214800
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Pancreatic cysts, Hypertension OMIM:266920
Cockayne Syndrome B
Cryptorchidism, Arrhythmia, Hypertension OMIM:133540
Cranioectodermal Dysplasia 1
Hepatomegaly, Brachydactyly, Broad toe, Rhizomelia, Short humerus, Malformation of the hepatic du... OMIM:218330
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Aicardi Syndrome
Precocious puberty, Multiple lipomas, Delayed puberty, Hiatus hernia ORPHA:50
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Immunodeficiency 87 And Autoimmunity
Hypertension, Third degree atrioventricular block, Dilated cardiomyopathy, Pulmonary arterial hyp... OMIM:619573
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Portal hypertension, Biliary hyperplasia, Pancreatic cysts, Hyperten... ORPHA:731
Kinsship Syndrome
Pes planus, Spastic tetraparesis, Micrognathia, Coxa valga, Hip dislocation, Bruxism, Fibular hyp... OMIM:619297
Arima Syndrome
Hypertension OMIM:243910
Systemic Lupus Erythematosus
Raynaud phenomenon, Hypertension ORPHA:536
Myhre Syndrome
Cryptorchidism, Aortic valve stenosis, Hypertension OMIM:139210
Pmm2-Cdg
Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated circulating g... ORPHA:79318
Cranioectodermal Dysplasia 2
Hypertension, Bile duct proliferation OMIM:613610
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Bowing of the long bones, Tremor, Splenomegaly, Lymphadenopathy, Hypocalcemia, Abno... ORPHA:667
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Hypospadias OMIM:615877
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Abnormality of the anter... ORPHA:438213
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Heart murmur, Abnormal left ventric... ORPHA:391665
Blau Syndrome
Pericarditis, Large vessel vasculitis, Hypertension, Pulmonary arterial hypertension, Abnormal sa... ORPHA:90340
Mucopolysaccharidosis Type 2, Severe Form
Cardiomyopathy, Arrhythmia, Hypertension, Heart murmur ORPHA:217085
Wolf-Hirschhorn Syndrome
Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Aplasia of the uterus... OMIM:194190
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... OMIM:620185
Mucopolysaccharidosis Type 2, Attenuated Form
Cardiomyopathy, Arrhythmia, Hypertension, Heart murmur ORPHA:217093
Generalized Arterial Calcification Of Infancy
Transient ischemic attack, Adrenal calcification, Retinal hemorrhage, Hypertension, Weak pulse, L... ORPHA:51608
Mucopolysaccharidosis Type 2
Cardiomyopathy, Arrhythmia, Hypertension ORPHA:580
Aicardi Syndrome
Precocious puberty, Lipoma, Hiatus hernia OMIM:304050
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Gastrointestinal hemorrhage, Hyperthyroidism, Cryptorchidism, Hypoplasia of t... ORPHA:567
Orofaciodigital Syndrome Type 4
Decreased testicular size, Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Mi... ORPHA:2753
Doors Syndrome
Adrenal hyperplasia, Congenital hypothyroidism ORPHA:79500
Renal Dysplasia
Hypertension ORPHA:93108
Williams Syndrome
Hypogonadotropic hypogonadism, Sudden cardiac death, Myocardial infarction, Precocious puberty, C... ORPHA:904
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Premature... ORPHA:125
Ciliary Dyskinesia, Primary, 1
Asplenia, Absent frontal sinuses, Male infertility OMIM:244400
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... OMIM:304120
Yunis-Varon Syndrome
Cryptorchidism, Renovascular hypertension, Hypertension, Cardiomyopathy, Pulmonary arterial hyper... ORPHA:3472
Williams-Beuren Syndrome
Diabetes mellitus, Portal hypertension, Early onset of sexual maturation, Hypertension, Mitral re... OMIM:194050
Keutel Syndrome
Hypertension, Pulmonic stenosis OMIM:245150
Paroxysmal Nocturnal Hemoglobinuria
Hypertension, Budd-Chiari syndrome, Myocardial infarction, Pulmonary embolism ORPHA:447
Congenital Disorder Of Glycosylation, Type Iim
Hypertension OMIM:300896
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Abdominal situs inversus OMIM:619607
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Hypertension OMIM:210710
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy OMIM:220111
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Cryptorchidism, Hypertension, Corneal neovascularization OMIM:308205
Cystic Fibrosis
Male infertility, Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Clubbing of fingers, Cirrh... OMIM:219700
Sponastrime Dysplasia
Precocious puberty, Hypothyroidism, Hypospadias, Small for gestational age ORPHA:93357
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Transient ischemic attack, Cryptorchidism, Renovascular hypertension,... 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) Vgfem1(IMPC)Wtsi PMC7263671

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MGI Allele Allele Type Produced
Vgfem1(IMPC)H Indel Mice
Vgfem1(IMPC)Wtsi Point Mutation Mice

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