Gene Summary

Name:
VGF nerve growth factor inducible
Synonyms:
LOC381677

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
limb grasping Vgfem1(IMPC)H HOM Early adult 4.80×10-09
increased grip strength Vgfem1(IMPC)H HOM Early adult 1.24×10-05
hyperactivity Vgfem1(IMPC)H HOM Early adult 1.48×10-28
abnormal locomotor behavior Vgfem1(IMPC)H HOM Early adult 1.22×10-10
increased circulating alanine transaminase level Vgfem1(IMPC)H HOM Early adult 2.29×10-12
tremors Vgfem1(IMPC)H HOM Early adult 5.01×10-05
increased exploration in new environment Vgfem1(IMPC)H HOM Early adult 1.20×10-06
increased circulating aspartate transaminase level Vgfem1(IMPC)H HOM   Early adult 8.68×10-05
decreased circulating fructosamine level Vgfem1(IMPC)H HOM Early adult 1.53×10-08
short tibia Vgfem1(IMPC)H HOM Early adult 5.44×10-06
decreased circulating glucose level Vgfem1(IMPC)H HOM Early adult 2.26×10-08
decreased spleen weight Vgfem1(IMPC)H HOM Early adult 6.29×10-05
decreased prepulse inhibition Vgfem1(IMPC)H HOM Early adult 2.60×10-07
male infertility Vgfem1(IMPC)H HOM Early adult 0.00
increased circulating total protein level Vgfem1(IMPC)H HOM Early adult 9.52×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

3 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

3 Images

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
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrom... OMIM:103900
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism, Elevated aldosterone:renin ratio, Hypertension OMIM:617027
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction, Diabetes mellitus OMIM:608320
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... OMIM:160120
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Hypertension, Adrena... OMIM:201910
Pheochromocytoma/Paraganglioma Syndrome 3
Elevated circulating catecholamine level, Chemodectoma, Palpitations, Hypertension associated wit... OMIM:605373
Sandhoff Disease, Adult Form
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creat... ORPHA:309169
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Pituitary Adenoma 1, Multiple Types
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... OMIM:102200
Coronary Artery Disease, Autosomal Dominant 2
Type II diabetes mellitus, Sudden cardiac death, Hypertension, Myocardial infarction OMIM:610947
Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism, Hypertension OMIM:605635
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia, Hypertension ORPHA:71529
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Pes cavus, Tremor, Elevated circulating creatine kinase conce... OMIM:615048
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level OMIM:605115
Familial Hyperaldosteronism Type Ii
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Abnormal circulating renin, Int... ORPHA:404
Familial Hyperaldosteronism Type I
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Dexamethasone-suppressible prim... ORPHA:403
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Hypertension, Adrenal hyperplasia OMIM:202110
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Absent patellar reflexes, Abnormal foot morphology, Tremor, Decreased patellar reflex, Mildly ele... OMIM:614369
Pheochromocytoma/Paraganglioma Syndrome 1
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Palpitations, Caroti... OMIM:168000
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Limb dystonia, Emotional lability, Parkinsonism, Abnormal pyramidal sign, Cognitive i... ORPHA:216873
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Depression, Memory impairment, Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parki... ORPHA:401901
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Optic Atrophy 2
Babinski sign, Absent Achilles reflex, Dysdiadochokinesis, Tremor OMIM:311050
Leukoencephalopathy, Brain Calcifications, And Cysts
Mental deterioration, Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor functio... OMIM:614561
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries, Hyperinsulinemia, Hypertension, Diabetes mellitus ORPHA:79084
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism, Hypertension OMIM:145260
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Dec... ORPHA:168563
Preeclampsia/Eclampsia 1
Hypertension OMIM:189800
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Spasticity, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal... OMIM:615924
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Transient ischemic attack, Hypertension OMIM:616779
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Polycystic ovaries, Abnormal circulating hormone concentration, Hypertension, I... ORPHA:280356
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Ankle flexion contracture, Spasticity, Inability to walk, Ankle clonus, Irritability, Babinski si... OMIM:616657
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Increased circulating ACTH level, Increased circulating and... OMIM:615962
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Hypertension, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Citrullinemia Type Ii
Abnormal eating behavior, Hepatic steatosis, Delirium, Hepatomegaly, Restlessness, Mania, Hypopro... ORPHA:247585
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
Lessel-Kubisch Syndrome
Hypogonadism, Hypertension OMIM:618681
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Hypertension, Myocardial infarction, Congestive heart failure OMIM:615703
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decreased testi... ORPHA:453533
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Absence of pubertal development, Azoospermia, Decreased testicular size, Cryptorchidism, Hypogona... OMIM:614837
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Hypertension... OMIM:615830
Familial Hyperaldosteronism Type Iii
Epistaxis, Adrenal hyperplasia, Abnormal circulating renin, Prolonged QT interval, Intracranial h... ORPHA:251274
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hyperglycemia, Transie... ORPHA:99886
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Spasticity, Gait ataxia, Rigidity, Clumsiness, Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
Pure Autonomic Failure
Abnormality of circulating catecholamine level, Syncope, Orthostatic hypotension ORPHA:441
Normosmic Congenital Hypogonadotropic Hypogonadism
Absence of pubertal development, Non-obstructive azoospermia, Cryptorchidism, Increased female li... ORPHA:432
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial fibrillation, Reduced left ventricular ejection fraction, Atrial flutter, Hypertension OMIM:620734
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Babinski sign, Cognitive impairment, Ataxia OMIM:611105
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Elevate... OMIM:612964
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Intellectual Developmental Disorder, Autosomal Recessive 48
Small hand, Inability to walk, Inappropriate laughter, Emotional lability, Tremor, Self-mutilatio... OMIM:616269
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Liddle Syndrome 2
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level OMIM:618126
Dystonia 11, Myoclonic
Depression, Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive beh... OMIM:159900
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ... OMIM:615300
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Palpitations, Adrenal hyperplasia, Decreased circulating renin level, Hypertension, Gl... ORPHA:231580
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Glucose intolerance, Polycystic ovar... OMIM:615363
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Epilepsy, Progressive Myoclonic, 6
Memory impairment, Difficulty walking, Pes cavus, Myoclonus, Tremor, Elevated circulating creatin... OMIM:614018
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Adult Neuronal Ceroid Lipofuscinosis
Mental deterioration, Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function... ORPHA:79262
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hypertension, Decreased serum leptin, Diabetic ketoacidosis OMIM:615238
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Pes cavus, Tremor, Rigidity, Ataxia OMIM:617018
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Glutaric Aciduria Iii
Hypertension, Hyperthyroidism, Goiter OMIM:231690
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Migraine, Familial Hemiplegic, 1
Hemiplegia, Confusion, Tremor, Hemiparesis, Ataxia, Agitation OMIM:141500
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Elevated circulating creatine k... ORPHA:276435
Liddle Syndrome 1
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level OMIM:177200
Basal Ganglia Calcification, Idiopathic, 1
Mental deterioration, Depression, Memory impairment, Bradykinesia, Chorea, Limb dysmetria, Tremor... OMIM:213600
Ganglioneuroma
Gastrointestinal hemorrhage, Abnormality of the adrenal glands, Hypertension, Neoplasm of the adr... ORPHA:251992
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Increased LDL cholesterol concentration, Tetraplegia, Ataxia, Hepatomegaly, Jau... OMIM:267700
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Pes cavus, Palmoplantar hyperkeratosis, Tremor OMIM:309560
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... OMIM:612885
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Irritability, Hyperphenylalaninemia, Hypertonia, Progressive neurologic deteri... OMIM:261630
Spinocerebellar Ataxia 37
Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Memory impairment, Leg muscle stiffness, Difficulty walking, Limb ataxia, Pes... ORPHA:251282
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Ataxia, Spasticity, Laryngeal dystonia, Bradykinesia, Chorea, Decreased circulatin... OMIM:606159
Fibular Hemimelia
Toe syndactyly, Short tibia, Limited knee flexion/extension, Finger syndactyly, Difficulty walkin... ORPHA:93323
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism ORPHA:181
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism, Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism, Hypertension OMIM:614495
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular f... OMIM:540000
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Hypogonadism, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Cognitive impairment,... OMIM:615768
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing hormone stimu... OMIM:616030
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Glut1 Deficiency Syndrome 2
Reticulocytosis, Tremor, Splenomegaly, Reduced haptoglobin level, Irritability, Ataxia, Dystonia,... OMIM:612126
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Congenital Glucokinase-Related Hyperinsulinism
Hand tremor, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal... ORPHA:79299
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... ORPHA:243
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level OMIM:218030
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Depression, Confusion, Myoclonus, Gait ataxia, Tremor, Abnormality of extra... OMIM:615362
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo... OMIM:171400
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Dystonia 12
Depression, Bradykinesia, Emotional lability, Tremor, Parkinsonism, Torticollis, Unsteady gait, D... OMIM:128235
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level, Hypotension, Hypertension OMIM:611489
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Bradykinesia, Incoordination, Postural tremor, Pes cavus, Gait ataxia... OMIM:128230
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Decreased circula... ORPHA:231625
Renal Failure, Progressive, With Hypertension
Hypertension OMIM:161900
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
46,Xy Partial Gonadal Dysgenesis
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,... ORPHA:251510
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... OMIM:616053
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension ORPHA:1345
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Bilateral coxa valga, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Cryptor... ORPHA:3085
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Limb fasciculations, Abnormal glucose homeostasis, Tremor, Elevated circulatin... ORPHA:90117
Potocki-Shaffer Syndrome
Delayed puberty, Hypothyroidism, Hypertension ORPHA:52022
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Lipodystrophy, Familial Partial, Type 4
Hypertension, Insulin-resistant diabetes mellitus OMIM:613877
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Hyperaldosteronism, Adrenal hyperplasia, Abnorma... ORPHA:369929
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism, Hypertension OMIM:614496
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... ORPHA:52901
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Tetraplegia, Ataxia, Hepatomegaly, Jaundice, ... OMIM:603553
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Obesity, Increased serum testosterone level... ORPHA:247768
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Pes cavus, Gait ataxia, Dysmetria, Tremor, Elevated circulating creatine kinase concentration, St... OMIM:618387
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Spinocerebellar Ataxia Type 12
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Gai... ORPHA:98762
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased serum testosterone concentration, Decreased te... OMIM:614897
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Congenital Generalized Lipodystrophy
Insulin resistance, Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Overg... ORPHA:528
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Attention deficit hyperactivity disorder, Oligozoospermia, Macroo... ORPHA:3000
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal la... ORPHA:435660
Congenital Disorder Of Glycosylation, Type Ij
Micrognathia, Clinodactyly of the 5th finger, Tremor, Aggressive behavior, Hypertonia, Jaundice, ... OMIM:608093
Hyperphenylalaninemia, Bh4-Deficient, D
Transient hyperphenylalaninemia, Hypertonia, Tremor, Hyperphenylalaninemia OMIM:264070
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular size, Increased... OMIM:202010
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Saccharopinuria
Mental deterioration, Hypercystinemia, Gait ataxia, Hyperammonemia, Tremor, Hyperlysinemia, Abnor... ORPHA:3124
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism, Hypertension, Decreased circulating renin level OMIM:614492
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Obesity, Polyphagia, Primary amenorrhea, Micropenis, Dec... OMIM:614962
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Bradykinesia, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Scissor gait, ... ORPHA:521406
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon ORPHA:401945
Multiple Myeloma
Elevated circulating creatinine concentration, Splenomegaly, Lymphadenopathy, Anemia, Hyperprotei... ORPHA:29073
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Solitary Fibrous Tumor
Uterine neoplasm, Hypoglycemia, Recurrent hypoglycemia, Vaginal neoplasm, Prostate cancer, Weight... ORPHA:2126
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Bradykinesia, Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Gait distu... ORPHA:314632
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Decreased fertility, Tremor, Elevated circulating creatine kinase concentration, ... OMIM:313200
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Fasciculations, Pes cavus, Gait ataxia, Myoclonus, Tremor, Babinski sign, Abnormal py... OMIM:607317
Spinocerebellar Ataxia 48
Mental deterioration, Depression, Chorea, Gait ataxia, Dysmetria, Tremor, Irritability, Babinski ... OMIM:618093
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo... OMIM:308750
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Frequent falls, Difficulty walking, Myoclonus, Tremor, Elevated circulatin... OMIM:159950
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Manganese Poisoning
Depression, Memory impairment, Decreased male libido, Bradykinesia, Confusion, Inappropriate laug... ORPHA:306682
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Depression, Elevated circulating phytanic acid concentration, Abnormality of the live... OMIM:614307
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... OMIM:617284
Narcolepsy Type 1
Precocious puberty, Male sexual dysfunction, Female sexual dysfunction, Obesity, Restless legs, A... ORPHA:2073
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... ORPHA:1972
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... OMIM:308700
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Limb dystonia, Tremor, Rigidity, Abnormality of extrapyramidal motor func... OMIM:605407
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Depression, Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable r... OMIM:620482
Coenzyme Q10 Deficiency, Primary, 9
Oppositional defiant disorder, Myoclonus, Dysmetria, Tremor, Short attention span, Impaired tande... OMIM:619028
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Classic Galactosemia
Mental deterioration, Incoordination, Speech apraxia, Action tremor, Decreased fertility in femal... ORPHA:79239
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Type I diabetes mellitus, Hypertension, Cryptorchidism ORPHA:1192
Lipodystrophy, Familial Partial, Type 1
Hypertension, Insulin-resistant diabetes mellitus OMIM:608600
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Obesity, Oligomenorrhea OMIM:604931
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Loss of glu... ORPHA:435651
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Juvenile Huntington Disease
Broad-based gait, Depression, Bradykinesia, Chorea, Gait ataxia, Myoclonus, Rigidity, Irritabilit... ORPHA:248111
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Poor motor coordination, Spasticity, Tetraparesis, Progressive psychomotor de... ORPHA:363400
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Mental deterioration, Neuromuscular dysphagia, Falls, Depression, Memory impairment, Bradykinesia... ORPHA:240085
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Progressive Supranuclear Palsy-Corticobasal Syndrome
Hand clenching, Involuntary movements, Mental deterioration, Memory impairment, Limb myoclonus, P... ORPHA:240103
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Decreased response to growth hormone stimulation test, Decreased testicul... ORPHA:280679
Phenylketonuria
Depression, Short attention span, Tremor, Lower limb spasticity, Hyperphenylalaninemia, Ataxia, D... ORPHA:716
Parkinson Disease 22, Autosomal Dominant
Depression, Resting tremor, Restless legs, Rigidity, Parkinsonism with favorable response to dopa... OMIM:616710
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Neurodegeneration With Brain Iron Accumulation 7
Pes cavus, Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Increased circul... OMIM:617916
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Spasticity, Cerebral palsy, Aggressive behavior, Hyperactivity, Unsteady gait, Compu... OMIM:301107
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Mental deterioration, Chorea, Limb ataxia, Gait ataxia, Pes cavus, Tremor, Eleva... OMIM:208920
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Memory impairment, Abnormality of the liver, Tremor, Biliary tract a... ORPHA:79234
Spastic Paraparesis And Deafness
Hypogonadism, Spastic paraparesis, Tremor OMIM:312910
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Babinski sign, Scis... OMIM:260300
Parkinson Disease 14, Autosomal Recessive
Mental deterioration, Spasticity, Resting tremor, Axial dystonia, Hemiparesis, Loss of ambulation... OMIM:612953
Corticobasal Syndrome
Involuntary movements, Memory impairment, Limb myoclonus, Progressive extrapyramidal muscular rig... ORPHA:454887
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease... ORPHA:95619
Hypermanganesemia With Dystonia 2
Spasticity, Limb dystonia, Opisthotonus, Parkinsonism, Bradykinesia, Tip-toe gait, Inability to w... OMIM:617013
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Spinocerebellar Ataxia 12
Depression, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dementia, Dysdia... OMIM:604326
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Spinocerebellar Ataxia Type 14
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Abnormality of the Achilles tendon, Cognit... ORPHA:98763
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Myoclonus, Tremor, Ataxia OMIM:616187
Methanol Poisoning
Type I diabetes mellitus, Inflammatory arteriopathy, Permanent atrial fibrillation, Type II diabe... ORPHA:31825
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Polycystic Kidney Disease 5
Hypertension OMIM:617610
Alopecia Universalis
Type I diabetes mellitus, Abnormality of the thyroid gland, Hypertension ORPHA:701
Glycine Encephalopathy 1
Myoclonus, Hyperglycinemia, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impul... OMIM:605899
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Spinocerebellar Ataxia Type 27
Depression, Memory impairment, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxi... ORPHA:98764
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Hypertension, Myocardial infarction OMIM:618620
Familial Cervical Artery Dissection
Transient ischemic attack, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... ORPHA:36382
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Ectopic Aldosterone-Producing Tumor
Epistaxis, Decreased circulating renin level, Ovarian neoplasm, Hypertension, Glucocortocoid-inse... ORPHA:231632
Stxbp1-Related Encephalopathy
Spasticity, Inability to walk, Tremor, Hyperactivity, Ataxia, Dystonia, Spastic tetraplegia ORPHA:599373
Spastic Ataxia 2, Autosomal Recessive
Mental deterioration, Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, B... OMIM:611302
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Lopes-Maciel-Rodan Syndrome
Spasticity, Small hand, Bradykinesia, Bruxism, Tremor, Ankle clonus, Abnormal pyramidal sign, Dys... OMIM:617435
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Clumsiness... ORPHA:100973
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia, Pedal edema, Intestinal lymphangiectasia OMIM:152800
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Mental deterioration, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Abnormal pyr... OMIM:617145
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Radial bowing, Decreased circulating beta-2-m... OMIM:241600
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Rapid-Onset Dystonia-Parkinsonism
Depression, Resting tremor, Limb dystonia, Gait ataxia, Emotional lability, Craniofacial dystonia... ORPHA:71517
46,Xy Sex Reversal 1
Elevated circulating luteinizing hormone level, Abnormal male external genitalia morphology, Gona... OMIM:400044
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hypotension, Con... ORPHA:90791
Atypical Rett Syndrome
Restrictive behavior, Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Sma... ORPHA:3095
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Clitoral hypertrophy, Long penis, Insulin-resista... OMIM:262190
Kennedy Disease
Testicular atrophy, Decreased fertility, Type II diabetes mellitus, Erectile dysfunction ORPHA:481
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Developmental And Epileptic Encephalopathy 97
Inability to walk, Tremor, Stereotypical hand wringing OMIM:619561
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
46,Xy Sex Reversal 3
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Ambiguo... OMIM:612965
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Increased serum estradiol, ... ORPHA:90797
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Tremor, Irritab... ORPHA:3077
Coffin-Siris Syndrome 8
Self-injurious behavior, Failure to thrive, Inguinal hernia, Cryptorchidism, Aggressive behavior,... OMIM:618362
Grange Syndrome
Aortic regurgitation, Hypertension ORPHA:79094
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Mental deterioration, Falls, Resting tremor, Pes cavus, Gait ataxia, Aggressi... OMIM:617225
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Precocious puberty, Elevated circulating 17-hydroxyprogesterone concentrati... ORPHA:90795
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Seckel Syndrome 7
Hypoplasia of the uterus, Central hypothyroidism, Primary amenorrhea OMIM:614851
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Paroxysmal Hemicrania
Hypertension, Diabetes mellitus ORPHA:157835
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Hip subluxation, Short tibia, Camptodactyl... ORPHA:356961
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Reduced circulating growt... OMIM:300845
Neurodegeneration With Brain Iron Accumulation 4
Mental deterioration, Spasticity, Depression, Generalized dystonia, Pes cavus, Emotional lability... OMIM:614298
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Tremor, Elevated circulating creatine kinase concentration, Ataxia, Compulsive behavio... OMIM:619405
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Tremor, Rigidity, Irritability, Parkinsonism, Limb hypertonia, Hyperphenylalaninemi... OMIM:261640
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Hsd10 Mitochondrial Disease
Spasticity, Spastic tetraplegia, Hypoglycemia, Aggressive behavior, Elevated circulating tiglylgl... OMIM:300438
Fragile X Tremor/Ataxia Syndrome
Mental deterioration, Depression, Dysdiadochokinesis, Resting tremor, Memory impairment, Postural... OMIM:300623
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Gonadal dysgenesis, Hypogonadism, Cryptorchidism, Hernia, Aggressive behavior... ORPHA:3306
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Cryptorchidism, Gon... OMIM:194072
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Dec... OMIM:620651
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis, Motor stereotypy OMIM:619470
Donohue Syndrome
Precocious puberty, Postprandial hyperglycemia, Clitoral hypertrophy, Long penis, Hyperglycemia, ... OMIM:246200
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Intention tremor, Abno... ORPHA:101110
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Lipodystrophy, Familial Partial, Type 6
Hypertension, Diabetes mellitus OMIM:615980
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation OMIM:619651
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Aggressive ... OMIM:612736
Preeclampsia
Elevated systolic blood pressure, Type I diabetes mellitus, Elevated diastolic blood pressure, Po... ORPHA:275555
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Difficulty walking, Pes cavus, Tremor, Vocal cord paralysis OMIM:158580
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Spasticity, Dementia, Chorea, Myoclonus, Tremor, Dysmetria, Clumsiness, Cognitive impairm... ORPHA:79263
Morgagni-Stewart-Morel Syndrome
Abnormality of the thyroid gland, Hypothyroidism, Abnormality of the endocrine system, Hypertensi... ORPHA:77296
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Raynaud phenomenon OMIM:615750
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Hypertension, Abnormality of circulating cortisol level,... ORPHA:320
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Spinocerebellar Ataxia 7
Mental deterioration, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor ... OMIM:164500
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio... OMIM:171420
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Falls, Inappropriate behavior, Bradykinesia, Extrapyramidal ... ORPHA:99750
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... ORPHA:98793
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Clinodactyly of the 5th finger, Hypoproteinemia ORPHA:1116
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... ORPHA:98754
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Mental deterioration, Limb myoclonus, Frequent falls, Difficulty walking, Inability to walk, Myoc... ORPHA:2590
Spinocerebellar Ataxia Type 37
Falls, Limb dysmetria, Myoclonus, Tremor, Cogwheel rigidity, Gait disturbance, Truncal ataxia, Dy... ORPHA:363710
Stiff Skin Syndrome
Type II diabetes mellitus, Hypertension ORPHA:2833
Hypogonadism, Male
Testicular atrophy, Hypospadias, Male hypogonadism, Micropenis OMIM:241100
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Aceruloplasminemia
Parkinsonism, Cognitive impairment, Torticollis, Ataxia, Decreased circulating ceruloplasmin conc... ORPHA:48818
Hyperprolinemia, Type I
Hyperprolinemia, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy OMIM:239500
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Small hand, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ataxia, Truncal... OMIM:610185
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... ORPHA:177904
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Truncal ataxia OMIM:276880
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... ORPHA:177901
Hartnup Disorder
Episodic ataxia, Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity, Hyp... OMIM:234500
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Primary Membranoproliferative Glomerulonephritis
Hypertension, Myocardial infarction ORPHA:54370
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia OMIM:207731
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Mental deterioration, Spasticity, Pes cavus, Tremor, Babinski sign, Steppage gait, Hypertonia, Ha... OMIM:609260
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Spinocerebellar Ataxia 38
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia OMIM:615957
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Shuffling gait, Spastic tetraplegia, Small hand, Resting tremor, Male hypogon... OMIM:300055
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Equinovarus deformity, Abnormal foot morphology, Difficulty walking, Inabili... ORPHA:101077
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Tremor, Pancreatic islet-cell ... ORPHA:276608
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... OMIM:614839
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small scrotum, Xerostomia, Absence of pubertal development, Type II diabete... ORPHA:398079
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Difficulty walking, Chorea, Leukocytosis, Splenomegaly, Tremo... OMIM:615673
Aicardi-Goutieres Syndrome 6
Splenomegaly, Tremor, Rigidity, Loss of ambulation, Irritability, Thrombocytopenia, Hepatomegaly,... OMIM:615010
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Cerebral hemorrhage, Lacunar strok... ORPHA:136
Amed Syndrome, Digenic
Attention deficit hyperactivity disorder, Hypoplasia of the uterus, Adrenal hypoplasia, Failure t... OMIM:619151
Huntington Disease-Like 2
Depression, Memory impairment, Bradykinesia, Chorea, Action tremor, Rigidity, Irritability, Demen... OMIM:606438
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Landau-Kleffner Syndrome
Depression, Memory impairment, Speech apraxia, Gait ataxia, Emotional lability, Short attention s... ORPHA:98818
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:300983
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Absence of pubertal development, Adrenal insufficiency, Pr... OMIM:300200
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hypopituitarism, Ischemic stroke, Cerebral ischemia, ST segm... ORPHA:90065
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Inguinal hernia, Elevated circulating follicle st... OMIM:300068
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Decreased testicular size, Obesity, Cry... OMIM:616222
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Progressive extrapyramidal movement disorder, Chorea, Abnormality of ext... ORPHA:382
Sneddon Syndrome
Intracranial hemorrhage, Hypertension ORPHA:820
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Parkinsonism, Cognitive impairment, Neutropen... ORPHA:167
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Tremor, Rigidity, Gait disturbance, Hyperactivity OMIM:618090
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Paraparesis, Cognitive impairment, Gait apra... OMIM:615157
Senior-Loken Syndrome
Hypertension ORPHA:3156
Hemiparkinsonism-Hemiatrophy Syndrome
Depression, Bradykinesia, Difficulty walking, Hemiatrophy, Tremor, Hemiparesis, Parkinsonism, Dys... ORPHA:306669
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, ... OMIM:617872
Nelson Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca... ORPHA:199244
Generalized Epilepsy With Febrile Seizures-Plus
Tibial torsion, Incoordination, Talipes valgus, Obsessive-compulsive trait, Tremor, Pes planus, L... ORPHA:36387
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Progressive Supranuclear Palsy
Blepharospasm, Depression, Falls, Memory impairment, Bradykinesia, Emotional lability, Tremor, Ri... ORPHA:683
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Neonatal Hemochromatosis
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat... ORPHA:446
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Neuroferritinopathy
Blepharospasm, Arm dystonia, Involuntary movements, Resting tremor, Bradykinesia, Difficulty walk... ORPHA:157846
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Elevated circulating creatine kinase concentration, Loss ... ORPHA:209335
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Cryptorchidism, Hypothyroidism, Del... ORPHA:95496
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Riboflavin Transporter Deficiency
Hypogonadism, Diabetes insipidus, Hypertension ORPHA:97229
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Talipes equinovalgus, Chorea, Gait ataxia, Self-mutilation, Lower limb spasticity, Hyperactivity,... OMIM:620445
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Leg muscle stiffness, Bradykinesia, Dementia, Akinesia, Myoclonus... OMIM:606693
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Hypoglycemia, Hypocalcemia, Short humerus, Short ribs, Talip... OMIM:607143
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Thrombocytosis, Hep... OMIM:226300
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Chorea, Action tremor, Tremor, Hyperkinetic movements, Aggressive behavior, Parkinson... OMIM:619738
Spinocerebellar Ataxia With Epilepsy
Depression, Gait ataxia, Myoclonus, Dysmetria, Tremor, Hyperalaninemia, Progressive neurologic de... ORPHA:254881
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Polycysti... ORPHA:79083
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia, Microphallus, Bifid scrotum, Abnormal scrotum morphology, Cryptorchidism, Inguinal ... ORPHA:397590
Spinocerebellar Ataxia 18
Pes cavus, Dysmetria, Tremor, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis OMIM:607458
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:309120
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Attention deficit hyperactivity disorder, Hyperch... OMIM:620211
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Dysmetria, Tremor, Babinski sign, Ataxia OMIM:612437
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Cardiomyopathy, Palpitations, Neoplasm of the pancreas,... ORPHA:892
Classic Phenylketonuria
Self-injurious behavior, Mental deterioration, Depression, Memory impairment, Hemiplegia, Paraple... ORPHA:79254
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Premature ovarian insuff... ORPHA:79237
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... OMIM:201170
Spinocerebellar Ataxia 42
Depression, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Cognitive impairment,... OMIM:616795
Amyloidosis, Hereditary Systemic 2
Hypertension OMIM:105200
Proximal Myopathy With Extrapyramidal Signs
Progressive extrapyramidal movement disorder, Involuntary movements, Resting tremor, Progressive ... ORPHA:401768
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dementia, Dystonia OMIM:605909
Late-Infantile/Juvenile Krabbe Disease
Mental deterioration, Neuromuscular dysphagia, Spastic paraparesis, Difficulty walking, Hemiplegi... ORPHA:206443
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Sinus tachycardia, Congestive heart failure, Positive regitine bl... ORPHA:94080
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Bradykinesia, Dementia, Postural tremor, Gai... OMIM:600116
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Mental deterioration, Depression... ORPHA:79095
Polyembryoma
Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio... ORPHA:180229
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... OMIM:301101
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Spasticity, Limb ataxia, Gait ataxia, Splenomegaly, ... OMIM:616719
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705