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Gene: Fmr1 MGI:95564

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
fragile X messenger ribonucleoprotein 1
Synonyms:
fragile X mental retardation 1,  Fmr-1,  FMRP

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Fmr1 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.

The table below shows human diseases predicted to be associated to Fmr1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors, Impaired social interactions OMIM:618830
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
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Cognitive impairment, Attention deficit hype... ORPHA:280397
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Epilepsy, Nocturnal Frontal Lobe, 2
Depression, Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus OMIM:603204
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
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
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Ataxia, Bilateral tonic-clonic seizure, Slender build, Aggressive behavior OMIM:617709
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Bilateral tonic-clonic seizure, Impaired ability to form peer relationships... OMIM:608636
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Schizophrenia 15
Hyperactivity OMIM:613950
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Irritability, ... OMIM:615006
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608631
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Aggressive behavior, Agitation, Status epilepticus, Emotional lab... OMIM:617171
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Depression, Myoclonic seizure, Seizure, Dementia, Myoclonus OMIM:162350
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... OMIM:619970
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Depression, Dementia, Myoclonus, Men... OMIM:204300
Epilepsy, Progressive Myoclonic, 12
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Depression, Myoclonus, Attention deficit hyper... OMIM:619191
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... OMIM:300088
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Impulsivity, Myoclonic s... OMIM:617113
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Restlessness, Bilateral tonic-clonic seizure, Irritability, Focal impaired awareness seizure, Men... OMIM:610003
Polymicrogyria, Bilateral Temporooccipital
Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Status epilepticus, Focal i... OMIM:612691
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv... ORPHA:101039
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Bilateral tonic-clonic seizure, Confusion, Ataxia, Focal-onset seizure, Depression, Gait ataxia, ... OMIM:615362
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus ORPHA:22
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries ORPHA:79084
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... ORPHA:3077
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... ORPHA:90301
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619639
Autism
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Ovarian Dysgenesis 10
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Small for gestat... OMIM:245570
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder OMIM:617863
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
Landau-Kleffner Syndrome
Gait ataxia, Non-convulsive status epilepticus without coma, Hyperactivity, Bilateral tonic-cloni... ORPHA:98818
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... ORPHA:3000
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Epilepsy, Progressive Myoclonic 7
Bilateral tonic-clonic seizure, Ataxia, Myoclonic seizure, Myoclonus, Mental deterioration OMIM:616187
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Intellectual Developmental Disorder, Autosomal Recessive 37
Seizure, Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... ORPHA:208441
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, Mental ... ORPHA:86909
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... OMIM:618357
Dravet Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Intellectual Developmental Disorder, X-Linked 72
Seizure, Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Mental d... ORPHA:2382
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic seizure, Focal-onset seizur... ORPHA:725
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Polymicrogyria, Bilateral Perisylvian, X-Linked
Cognitive impairment, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence se... OMIM:300388
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst OMIM:617100
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure, Ataxia, Cachexia, Chorea, Dysmetria, Depression, Gait ataxia, Irr... OMIM:618093
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Polycysti... ORPHA:3085
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Self-injurious behavior,... OMIM:617904
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Chorea, Seizure, Self... ORPHA:382
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Choreoathetosis, Irritability, Status epilepticus, Myoclonus, Fai... OMIM:609056
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Dementia, Myoclo... OMIM:254800
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... OMIM:614840
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Tonic seiz... OMIM:617389
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Preeclampsia
Type I diabetes mellitus, Polycystic ovaries ORPHA:275555
Rolandic Epilepsy
Short attention span, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal ... ORPHA:1945
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Limb ataxia, Choreoathetosi... OMIM:616230
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... OMIM:616540
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Seizure, G... OMIM:605021
N-Acetylaspartate Deficiency
Short attention span, Broad-based gait, Unsteady gait, Seizure, Truncal ataxia, Abnormal repetiti... OMIM:614063
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Insulin-resistant diabetes mellitus, Hypergonadotropic hypogonadism, Secondary amenorrhea, Polycy... OMIM:268020
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:79085
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
Benign Familial Infantile Epilepsy
Psychomotor deterioration, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:306
Isolated Focal Cortical Dysplasia
Psychomotor deterioration, Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic sei... ORPHA:65683
Stxbp1-Related Encephalopathy
Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... ORPHA:599373
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Aggressive behavior, Typical absence seizure, My... OMIM:616409
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Ataxia, Aggressive behavior, Focal motor status epilepticus, Focal-onset seizure, Seizu... OMIM:619150
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... OMIM:619605
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonic seizur... OMIM:617831
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Generaliz... ORPHA:36387
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... ORPHA:98807
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... OMIM:620145
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (... OMIM:607682
Partington Syndrome
Macroorchidism, Limb dystonia ORPHA:94083
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Generalized non-motor (... OMIM:619157
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonus, Myocl... OMIM:614018
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se... OMIM:616341
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait disturbance, Difficulty... ORPHA:98764
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... OMIM:618587
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior OMIM:309530
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Distal Deletion 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Ataxia-Telangiectasia
Diabetes mellitus, Polycystic ovaries, Type II diabetes mellitus, Delayed puberty, Abnormal testi... ORPHA:100
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Episo... OMIM:618924
Familial Focal Epilepsy With Variable Foci
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... ORPHA:98820
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment OMIM:238700
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus OMIM:613721
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Choreoathetosis, Agenesis ... ORPHA:561854
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, Dysphagia, Recurrent ... OMIM:617862
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure... OMIM:611726
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Seizure, Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... OMIM:616139
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... ORPHA:8
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure OMIM:613722
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:435651
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mann... OMIM:239500
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Chorea, Gait ... OMIM:618917
Developmental And Epileptic Encephalopathy 107
Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure OMIM:620033
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition... OMIM:600795
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol... OMIM:604367
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Late... ORPHA:101071
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive psychomotor deterioration... ORPHA:263516
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... OMIM:619827
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz... OMIM:613855
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Pick Disease Of Brain
Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion... OMIM:172700
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus OMIM:266100
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:435660
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Male infertility, Azoospermia, Cognitive impairment, Testicular atrophy ORPHA:276183
Developmental And Epileptic Encephalopathy 97
Epileptic spasm, Tremor, Inability to walk, Seizure, Stereotypical hand wringing OMIM:619561
Spinocerebellar Ataxia 32
Cerebellar atrophy, Azoospermia, Infertility, Cognitive impairment, Testicular atrophy OMIM:613909
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Childhood Disintegrative Disorder
Social and occupational deterioration, Seizure, Dementia, Abnormal emotion, Progressive language ... ORPHA:168782
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Resting tremor, Dystonia, Ataxia, Tremor, Choreoathetosis, Male hypogonadism, Shuff... OMIM:300055
Parasomnia, Sleep Bruxism Type
Myoclonus, Bruxism OMIM:606840
Fragile X Syndrome
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand flapping, Congenital mac... OMIM:300624
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Hereditary Geniospasm
Abnormal social behavior, Intention tremor ORPHA:53372
Spinocerebellar Ataxia, Autosomal Recessive 12
Bilateral tonic-clonic seizure, Limb ataxia, Ataxia, Gait ataxia OMIM:614322
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, Focal clonic seizure, Mental deterioration, Neonat... ORPHA:140927
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity OMIM:300143
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... ORPHA:66624
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Seizure, Abnormal repetitive manner... OMIM:619470
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Dysmetria, Gait ataxia, Generalized... OMIM:618090
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub... ORPHA:90795
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Mitochondrial Complex I Deficiency, Nuclear Type 12
Bilateral tonic-clonic seizure, Ataxia, Choreoathetosis, Seizure, Dementia, Myoclonus, Generalize... OMIM:301020
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Choreoathetosi... OMIM:618497
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
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Seizure, Obesity ORPHA:85286
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Generalized non-motor... OMIM:271980
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Infantile spasms, Tonic seizure, Focal-onset seizure, Seizure, Irritability, Difficulty walking, ... OMIM:617393
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ... OMIM:617350
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Bilateral tonic-clonic seizure, Obesity, Large for gestational age OMIM:240900
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Developmental And Epileptic Encephalopathy 58
Inability to walk, Seizure, Abnormal repetitive mannerisms, Status epilepticus OMIM:617830
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Narcolepsy Type 1
Transient global amnesia, Obesity ORPHA:2073
Lissencephaly 3
Bilateral tonic-clonic seizure, Ataxia, Seizure, Agenesis of corpus callosum, Generalized tonic s... OMIM:611603
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Bilateral tonic-clonic seizure, Slender build, Chorea, Generalized non-motor (abse... OMIM:617600
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Ovarian neoplasm OMIM:604370
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Yoon-Bellen Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Generalized myoclonic-atonic seizure, S... OMIM:619701
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Seizure, Dysplastic corpus callosum, Bilateral tonic-clonic seizure, Ataxia OMIM:620317
Manganese Poisoning
Postural tremor, Confusion, Akinesia, Depression, Memory impairment, Irritability, Gait disturban... ORPHA:306682
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma OMIM:613399
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Bilateral tonic-clonic seizure OMIM:104290
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset, Short attention span ORPHA:163721
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal tonic seizure, Myoclonic seizure, At... OMIM:617106
Congenital Fibrinogen Deficiency
Micropenis, Hemorrhagic ovarian cyst, Decreased testicular size ORPHA:335
Congenital Disorder Of Glycosylation, Type Iaa
Pseudobulbar paralysis, Failure to thrive, Bilateral tonic-clonic seizure, Status epilepticus OMIM:617082
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines OMIM:301076
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Fragile X Syndrome
Macroorchidism, Self-injurious behavior, Attention deficit hyperactivity disorder ORPHA:908
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus OMIM:608105
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Chorea, Gen... ORPHA:485350
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentration, Aggressive beha... ORPHA:85327
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Emotional lability, Obesity, Cryptorchidism OMIM:309585
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure OMIM:619031
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... OMIM:604317
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Focal-onset seizure, Self-injurious behavior, Convulsive status epilepticus, D... OMIM:618760
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Oral-pharyngeal dysp... ORPHA:208447
Donohue Syndrome
Precocious puberty, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic islet-cell hyperplasia... OMIM:246200
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus,... OMIM:614487
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Hyperinsuline... ORPHA:528
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Bilateral tonic-clonic seizure, Ataxia OMIM:618425
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, ... OMIM:619854
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Seizure, Dementia OMIM:226750
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries OMIM:616831
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence... ORPHA:79137
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Irritability, M... OMIM:617290
Unilateral Focal Polymicrogyria
Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Aggressive behavior, Foc... ORPHA:268947
Ovarian Cancer
Ovarian papillary adenocarcinoma, Dysgerminoma OMIM:167000
Sarcosinemia
Emotional lability, Bilateral tonic-clonic seizure, Ataxia ORPHA:3129
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha... ORPHA:250972
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615108
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, Seizure, Dystonia, Abnormal repetitive mannerisms OMIM:617820
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Va... OMIM:615109
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Cerebral Creatine Deficiency Syndrome 2
Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Seizure, Myoclonus, Febrile seizure ... OMIM:612736
Intellectual Developmental Disorder, Autosomal Recessive 6
Kinetic tremor, Torticollis, Postural tremor, Impaired social interactions OMIM:611092
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Myoclonic seizure, Agenesi... OMIM:619301
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Partial agenesis of the co... OMIM:619302
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h... ORPHA:64280
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S... OMIM:616645
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... OMIM:607745
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Seizure, EEG with centrotemporal focal spike waves, Obesity ORPHA:217377
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Chorea, Choreoathe... OMIM:616981
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... ORPHA:1929
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Failure to thrive in infancy OMIM:619065
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spastic ataxia, Somatic sensory dysfunction, Bilateral tonic-clonic seizure, Aggressive behavior,... ORPHA:199354
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Generalized non-motor (absence) seizure, Obesity, Seizure, Abnormal repetitive manner... OMIM:613886
Chromosome 22Q13 Duplication Syndrome
Short attention span, Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention ... OMIM:615538
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Mitochondrial Complex I Deficiency, Nuclear Type 15
Irritability, Failure to thrive, Bilateral tonic-clonic seizure OMIM:618237
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Progressive cereb... ORPHA:248111
Lujan-Fryns Syndrome
Macroorchidism, Attention deficit hyperactivity disorder ORPHA:776
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Seizure, Aplasia/Hypoplasia of the testes ORPHA:3055
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Clonic seizure OMIM:615282
Pparg-Related Familial Partial Lipodystrophy
Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Insulin-resistant diabetes mellitus, Secondar... ORPHA:79083
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hypoplasia of the ovary, Hypog... ORPHA:110
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Obesity, Aggressive behavior OMIM:620270
Familial Partial Lipodystrophy, Dunnigan Type
Diabetes mellitus, Dysmenorrhea, Secondary amenorrhea, Polycystic ovaries ORPHA:2348
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Focal-onset seizure, ... ORPHA:168491
Megalencephaly
Macroorchidism, Truncal obesity, Long penis ORPHA:2477
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Seizure, Bruxism, Abnormal rep... OMIM:618718
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Nocturnal seizures, Myoclonus, Attention ... OMIM:619725
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Clark-Baraitser syndrome
Macroorchidism, Seizure, Obesity, Tall stature OMIM:300602
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Neurodevelopmental Disorder With Involuntary Movements
Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Self-injurious behavior, Athetosis, Foc... OMIM:617493
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Small for gestational age, Focal-onset seizure, ... ORPHA:289266
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, P... ORPHA:411515
Intellectual Developmental Disorder, Autosomal Recessive 46
Ataxia, Large for gestational age, Aggressive behavior, Seizure, Self-injurious behavior, Agitation OMIM:616116
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... ORPHA:247768
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Focal impaired aware... OMIM:620292
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Frontotemporal dementia, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive manner... OMIM:612069
Infantile Cerebellar-Retinal Degeneration
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Athetosis, Decreased body weight, Fa... OMIM:614559
Hernández-Aguirre Negrete Syndrome
Seizure, Obesity, EEG abnormality ORPHA:2139
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Prostate cancer, Ovarian neoplasm OMIM:616534
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Abnormal fallopian tube morphology, Prostate cancer, Ovarian neoplasm ORPHA:145
Severe Canavan Disease
Seizure, Irritability, Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia ORPHA:314911
Perry Syndrome
Akinesia, Tremor, Frontotemporal dementia, Depression, Inappropriate behavior, Dystonia, Short st... OMIM:168605
Coenzyme Q10 Deficiency, Primary, 9
Short attention span, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Impulsivity,... OMIM:619028
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder OMIM:618725
Congenital Disorder Of Glycosylation, Type Iiy
Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Status epilepticus OMIM:620200
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Atkin-Flaitz Syndrome
Macroorchidism, Obesity ORPHA:1193
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic stat... OMIM:619913
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Lethargy OMIM:605899
Intellectual Developmental Disorder, X-Linked 108
Overweight, Broad-based gait, Difficulty walking, Attention deficit hyperactivity disorder OMIM:301024
Ceroid Lipofuscinosis, Neuronal, 3
Psychomotor deterioration, Bilateral tonic-clonic seizure, Seizure, Dementia, Myoclonus OMIM:204200
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Choreoathetosis, Episodic ataxia, Bilateral tonic-clonic seizure, Paresthesia ORPHA:53583
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Seizure, Inappropriate behavior, Co... ORPHA:309246
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Focal impaired awareness seizure, S... ORPHA:330050
Developmental And Epileptic Encephalopathy 47
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, Limb ataxia, Status e... OMIM:617166
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Short attention span, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Tonic... OMIM:619580
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Short attention span, Bilateral tonic-clonic seizure, Aggressive beh... OMIM:300558
Cln3 Disease
Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Focal-onset seizure, Depression, Myo... ORPHA:228346
Bardet-Biedl Syndrome 5
External genital hypoplasia, Obesity, Hypogonadism, Cognitive impairment, Micropenis OMIM:615983
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Depression, Atte... ORPHA:98784
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Precocious p... ORPHA:163681
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Myoclonic se... OMIM:617711
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm OMIM:175200
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Unsteady gait, Blepharospasm, Dementia, Falls, Gait imbalance... ORPHA:240094
Microphthalmia, Isolated 4
Absent testis OMIM:613094
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Gait ataxia, Progressive cerebellar ataxia, Cognitive impairment ORPHA:98773
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity, Impaired social interactions, Aggressive behavior ORPHA:329249
Systemic Primary Carnitine Deficiency
Confusion, Bilateral tonic-clonic seizure with focal onset ORPHA:158
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonic seizure, Irritabi... OMIM:617105
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Seizure, Diminished ability to concentrate, Fe... OMIM:615516
Mehmo Syndrome
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Obesity, Seizure, EEG abnormali... ORPHA:85282
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Obesity Due To Sim1 Deficiency
Obesity, Cognitive impairment, Attention deficit hyperactivity disorder, Memory impairment, Polyp... ORPHA:369873
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Se... OMIM:617976
Cystic Echinococcosis
Ovarian cyst, Renal cyst, Hepatic cysts, Abnormality of the testis size ORPHA:400
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis ORPHA:85274
Bardet-Biedl Syndrome 10
Seizure, Hypogonadism, Obesity OMIM:615987
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior, Micropenis ORPHA:75858
Intellectual Developmental Disorder With Seizures And Language Delay
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:619000
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
Lafora Disease
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Confusion, Ataxi... ORPHA:501
11P15.4 Microduplication Syndrome
Seizure, Obesity, Aggressive behavior ORPHA:300305
Mitochondrial Complex I Deficiency, Nuclear Type 13
Irritability, Failure to thrive, Bilateral tonic-clonic seizure, Focal motor seizure OMIM:618235
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Unsteady gait, Bruxism, Seizure, Agitation, Focal impaired awareness seizure, D... OMIM:617435
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Dysmetria, Myoclonic sei... OMIM:617810
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Seizure, Obesity ORPHA:436141
Proteus-Like Syndrome
Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries ORPHA:2969
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... ORPHA:562
Corticobasal Syndrome
Dystonia, Akinesia, Tremor, Dementia, Gait disturbance, Limb dystonia, Memory impairment ORPHA:454887
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Dystonia, Oculogyric crisis, Inability to walk, Myoclonic seizure, Self-injuriou... OMIM:614254
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Progressive neurologic deterioration, Dysmetria,... ORPHA:254881
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:617836
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Autism, Susceptibility To, 3
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Developmental And Epileptic Encephalopathy 66
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... OMIM:618067
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Impaired social interactions, Aggressive behavior OMIM:616083
Juvenile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Depression, Seizure, Dementia, Progressive language deterioration... ORPHA:79264
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure... OMIM:615859
Spinocerebellar Ataxia 21
Ataxia, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Cogni... OMIM:607454
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Alpers-Huttenlocher Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Choreoathetosis, Myoclonus ORPHA:726
Short Syndrome
Ovarian cyst, Insulin-resistant diabetes mellitus OMIM:269880
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Chorea, Seizure, Focal impaired awareness seizure, Status epilept... OMIM:613970
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Gait ataxia ORPHA:488635
Aminoacylase 1 Deficiency
Seizure, Hyperactivity, Bilateral tonic-clonic seizure OMIM:609924
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... OMIM:261600
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Bilateral tonic-clonic seizure ORPHA:100988
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... OMIM:615637
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Low frustration tolerance, Compulsive behaviors, Macroorchidi... OMIM:309520
Adiposis Dolorosa
Obesity, Depression OMIM:103200
Infantile Systemic Hyalinosis
Abnormality of the adrenal glands, Aplasia/Hypoplasia of the thymus, Polycystic ovaries ORPHA:2176
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Seizure, Obesity, Depression ORPHA:276630
Autism, Susceptibility To, X-Linked 6
Seizure, Obesity OMIM:300872
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Ovarian serous cystadenoma ORPHA:276280
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovaries ORPHA:79086
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Dystonia, Mental deterioration OMIM:615924
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Overweight, Depression, Seizure, Abnormal repetitive mannerisms, ... ORPHA:457240
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Dysphagia, Gene... ORPHA:313772
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Optic atrophy OMIM:300983
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Bilateral tonic-clonic seizure, Dementia, Myoclonus, Cognitive impairment OMIM:607876
Parkinson Disease 17
Tremor, Resting tremor, Akinesia OMIM:614203
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:618856
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia OMIM:203740
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age OMIM:256450
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Obesity, Seizure, Attention deficit hyperactivity disorder, Compulsive beha... ORPHA:444002
Leptin Receptor Deficiency
Abnormal eating behavior, Aggressive behavior, Obesity, Abnormal hypothalamus morphology, Emotion... OMIM:614963
Intellectual Developmental Disorder, X-Linked 92
Decreased testicular size OMIM:300851
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Tall stature OMIM:618406
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T... OMIM:300607
Atypical Rett Syndrome
Restrictive behavior, Generalized myoclonic seizure, Infantile spasms, Tremor, Inability to walk,... ORPHA:3095
Leptin Deficiency Or Dysfunction
Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decreased testicular size OMIM:614962
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... OMIM:609425
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Seizure, Dementia, Agitation, Myoclonus, Disinhibition, Semantic dementia, Mem... ORPHA:1020
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... OMIM:619616
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Seizure, Attention deficit hyperactivity diso... OMIM:301029
Intellectual Developmental Disorder, Autosomal Dominant 39
Aggressive behavior, Generalized non-motor (absence) seizure, Obesity, Focal impaired awareness s... OMIM:616521
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl... OMIM:619092
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, Focal impaired awareness seizure, Generalized tonic seizure ORPHA:163985
Huntington Disease
Abnormal libido, Aggressive behavior, Oral-pharyngeal dysphagia, Inability to walk, Bradykinesia,... ORPHA:399
Hereditary Central Diabetes Insipidus
Lethargy, Polydipsia ORPHA:30925
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Seizure, Atten... OMIM:617695
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:619428
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Dysmenorrhea, Oligomenorrhea, Polycystic ovaries ORPHA:79240
Peho-Like Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:617507
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
Lipodystrophy, Familial Partial, Type 2
Labial pseudohypertrophy, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovari... OMIM:151660
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Lateral ventricle dilatation, Bruxism OMIM:615716
Central Precocious Puberty In Male
Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Seizure, Overgrowth,... ORPHA:649929
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Cervix cancer, Pancreatic adenocarcinoma, Multiple renal cysts ORPHA:2869
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Irritability, Bilateral tonic-clonic seizure ORPHA:457205
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Dystonia, Abnormal repetitiv... OMIM:618218
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Myoclonic seizure OMIM:619690
Hyperparathyroidism, Transient Neonatal
Ovarian cyst, Hyperparathyroidism OMIM:618188
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... ORPHA:352582
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Dysmenorrhea, Irregular menstruation, Polycystic ovaries, Oligomenorrhea, Delayed puberty ORPHA:264580
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia OMIM:615031
Atypical Juvenile Parkinsonism
Resting tremor, Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Short stepped... ORPHA:391411
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicular size ORPHA:261483
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Obesity And Hypopigmentation
Overgrowth, Polyphagia, Obesity OMIM:620195
Kleine-Levin Syndrome
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... ORPHA:33543
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Seizure, Failure to thrive, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:616281
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ... ORPHA:249
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... OMIM:618012
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Tremor, Dementia, Dystonia, Mental deterioration OMIM:300894
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Lateral ventricle dilatation, Bilateral tonic-clonic seizure OMIM:619278
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Intellectual Developmental Disorder With Autism And Macrocephaly
Overweight, Pica, Seizure, Recurrent hand flapping, Tall stature OMIM:615032
Hsd10 Disease
Short attention span, Ataxia, Tremor, Choreoathetosis, Gait disturbance, Abnormal social behavior ORPHA:391417
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... ORPHA:2298
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Failure to thrive, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic... OMIM:300912
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Bilateral tonic-clonic seizure, Ataxia, Obesity, Seizure, Generalized myoclonic seizure, Focal my... ORPHA:464282
Sulfite Oxidase Deficiency, Isolated
Choreoathetosis, Agitation, Bilateral tonic-clonic seizure, Ataxia OMIM:272300
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure OMIM:620028
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Dystonia, Freezing of gait OMIM:619911
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Seizure, Micropenis, ... OMIM:610628
Polyembryoma
Macroorchidism, Irregular menstruation, Isosexual precocious puberty ORPHA:180229
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Dementia, Shuffling gait, Memo... ORPHA:247234
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Seizure, Agitation, Increased body weight, Progressive neurologic deterioration ORPHA:276608
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
14Q11.2 Microduplication Syndrome
Aggressive behavior, Obesity, Seizure, Attention deficit hyperactivity disorder, Polyphagia ORPHA:261229
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Diabetes mellitus, Decreased adiponectin level, Dysmenorrhea, Decreased serum leptin, Secondary a... ORPHA:280365
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... ORPHA:3464
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Myoclonic-Astatic Epilepsy
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Si... ORPHA:1942
X-Linked Intellectual Disability, Hedera Type
Atonic seizure, Obesity, Dysmetria, Bilateral tonic-clonic seizure ORPHA:93952
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seiz... OMIM:618170
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Seizure, Attenti... OMIM:620242
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Torticollis, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Akinesia, Tremor, Social and occupational deterioration, Blepharospasm, Falls, Ga... ORPHA:240071
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Choreoathetosis, Status epilepticus, Generalized... OMIM:612164
Lipodystrophy, Congenital Generalized, Type 1
Diabetes mellitus, Decreased serum leptin, Decreased fertility in females, Labial hypertrophy, Hy... OMIM:608594
Immunodeficiency 61
Obesity, Attention deficit hyperactivity disorder OMIM:300310
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Depression, Seizure, Dysphagia, Abnormal repetitive mannerisms DECIPHER:45
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Renal cyst, Ovarian cyst, Aplasia of the vagina, Ap... OMIM:614527
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... ORPHA:1359
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Obesity, Hypoplasia of the prostate, Seizure, EEG abnormality, Micropenis OMIM:301900
Ataxia-Oculomotor Apraxia Type 4
Short attention span, Ataxia, Obesity, Cognitive impairment ORPHA:459033
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:618354
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Depression, Attention deficit hyperactivity disorder, Macroorchidism, T... ORPHA:90674
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Azoospermia, Hypogonadism, In... OMIM:229070
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Akinesia, Dementia, Limb dystonia, Mental deterioration OMIM:616840
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity ORPHA:71529
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Seizure, Difficulty walking, Dystonia, Abnormal repetitive mannerisms ORPHA:280763
Severe Neonatal-Onset Encephalopathy With Microcephaly
Seizure, Bilateral tonic-clonic seizure ORPHA:209370
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Decreased fertility in females, Labial hypertrophy, Hyperinsulinemia, Dec... OMIM:269700
Congenital Insensitivity To Pain With Severe Intellectual Disability
Pain insensitivity, Small for gestational age, Bilateral tonic-clonic seizure, Impaired tactile s... ORPHA:453510
Dentici-Novelli Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Epileptic spasm, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:619877
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Inability to walk, Steppage gait ORPHA:324410
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Seizure, Gait disturbance, Inappropriate laughter, Febrile seizure (within... OMIM:614104
Trisomy 20P
Hypospadias, Cryptorchidism, Gait disturbance, Abnormal autonomic nervous system physiology, Cogn... ORPHA:261318
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short attention span, Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity... OMIM:618342
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Seizure, Depression OMIM:620114
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
D-2-Hydroxyglutaric Aciduria 1
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Seizure, Late... OMIM:600721
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Atonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Foc... ORPHA:411986
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Shyness, Aggressive behavior, Depression, Irritability, Self... ORPHA:449291
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Large for gestational age OMIM:601820
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Small for gestational age, Infantile spasms, Ataxia, Partial agen... ORPHA:79243
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Impaired distal vibration sensation, Impaired vibration sensation in the lower limbs, Obe... OMIM:604360
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... OMIM:610539
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia, Seizure, Status epilepticus ORPHA:529665
Central Diabetes Insipidus
Lethargy, Polydipsia, Anorexia ORPHA:178029
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Attention deficit hyperactivity disorder, Gait disturbance, Increased body weight, Impulsivity ORPHA:589905
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Restlessness, Bilateral tonic-clonic seizure, Infantile spasms, Seizure, Irritability, Failure to... ORPHA:544503
Lynch Syndrome 4
Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Seizure, Compulsive behaviors, Attention deficit h... ORPHA:352490
Oromandibular Dystonia
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Depression, Blepharospasm, Limb dystonia, ... ORPHA:93958
Ritscher-Schinzel Syndrome 4
Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Aggressive behavior, Focal-onset seizure, Ch... OMIM:619435
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Agitation, Disinhibition... OMIM:607485
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Progressive neur... OMIM:254780
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Obsessive-compulsive trai... OMIM:618825
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Seizure, Irritability, Failure to th... ORPHA:481152
Christianson Syndrome
Generalized-onset seizure, Dystonia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal atax... ORPHA:85278
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Postencephalitic Parkinsonism
Resting tremor, Oculogyric crisis, Akinesia, Depression, Tremor by anatomical site, Abnormal aggr... ORPHA:97349
Hyperekplexia 3
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Confu... ORPHA:363558
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Status epilepticus, Myoclonus OMIM:618201
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Confusion, Focal motor seizure, Dysmetria, Gait ataxia, Episodic ... OMIM:602481
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Polyphagia, Obesity, Hypoglycemic seizures... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Polyphagia, Obesity, Hypoglycemic seizures... ORPHA:71526
Idiopathic Intracranial Hypertension
Focal sensory seizure with olfactory features, Abnormal emotion, Obesity, Depression ORPHA:238624
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Tremor, Depression, Impaired social interactions, Dystonia, Action tremor OMIM:619738
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Tongue thr... ORPHA:98795
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Ataxia, Abnormal repetitive mannerisms, Cryptorchidism, Self-... ORPHA:228402
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:301058
Hereditary Late-Onset Parkinson Disease
Resting tremor, Akinesia, Depression, Dementia, Low frustration tolerance, Shuffling gait, Dyston... ORPHA:411602
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepti... ORPHA:364028
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Akinesia, Tremor, Dementia, Gait disturbance, Dystonia OMIM:606693
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors OMIM:619467
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Generalized-onset seizure, Dysplastic corpus callosum, Hypoesthesia... OMIM:619737
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Confusion, Seizure, Agitation, Cognitive impairment, Emotional lability, Abnormal repetit... ORPHA:927
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Fatty Acid Hydroxylase-Associated Neurodegeneration
Bilateral tonic-clonic seizure, Focal-onset seizure, Depression, Progressive gait ataxia, Dysphag... ORPHA:329308
Orofaciodigital Syndrome I
Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts OMIM:311200
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Hyperactivity, Dystonia, Ataxia, Impulsivity, Un... ORPHA:35069
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... ORPHA:228360
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Seizure, Failure to thrive, Hypospadias OMIM:618874
Dk1-Cdg
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizure, Failure to thrive ORPHA:91131
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Seizure, Bilateral tonic-clonic seizure OMIM:300423
Intellectual Developmental Disorder, Autosomal Recessive 71
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Dementia, Bilateral tonic-clonic seizure OMIM:540000
Developmental And Epileptic Encephalopathy 61
Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617933
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Chorea, Status epilepticus, Myoclonus, Mental deterioration, Fail... OMIM:616672
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder OMIM:274300
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, Obesity, External genital hypoplasia OMIM:615982
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Lissencephaly Due To Tuba1A Mutation
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Partial agenesis of the co... ORPHA:171680
Bilateral Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:268940
Nephronophthisis 15
Seizure, Obesity OMIM:614845
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism OMIM:613192
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Adrenal hyperplasia, Male pseudohermaphroditism, Seizure, Macroorchidism, ... ORPHA:90790
Lissencephaly 9 With Complex Brainstem Malformation
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Focal impaired awar... OMIM:618325
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm OMIM:614350
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Seizure, Agitat... OMIM:618056
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue t... ORPHA:98794
Angelman Syndrome Due To A Point Mutation
Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Seizure, Inappropriate laughter, Dys... ORPHA:411511
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Hypospadias, Aggressive behavior, Tremor, Cryptorchidism, Gait ataxia, Hypogonadis... OMIM:300354
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, ... ORPHA:313892
Histiocytoid Cardiomyopathy
Renal cyst, Polycystic ovaries ORPHA:137675
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Irritab... ORPHA:79351
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Inability to walk, Seizure, Irritability, Sta... OMIM:617864
Hyperekplexia 1
Seizure, Exaggerated startle response, Myoclonus, Nocturnal seizures OMIM:149400
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Tongue thrusting, Seizure, Status epilepticus, Focal clonic seizu... OMIM:220120
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous... OMIM:608800
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia ORPHA:500180
Summitt Syndrome
Obesity OMIM:272350
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia, Weight loss OMIM:275000
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Dystonia, Seizure, Agitation, Gait disturbance, Bruxism, Recurrent hand flapping OMIM:617903
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Hyperactivity, Broad-based gait, Aggressive behavior ORPHA:457260
X-Linked Intellectual Disability, Cantagrel Type
Seizure, Abnormal repetitive mannerisms ORPHA:85277
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Dystonia, Inability to walk, Self-injurious behavior, Seizure, Status epilep... OMIM:618004
Supranuclear Palsy, Progressive, 2
Axial dystonia, Postural tremor, Akinesia, Irritability, Falls, Gait imbalance, Retrocollis, Memo... OMIM:609454
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Obesity, Oligozoospermia OMIM:615703
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Self hugging, Increased body weight, Head-banging, Seizur... OMIM:182290
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Amish Lethal Microcephaly
Irritability, Agenesis of corpus callosum, Bilateral tonic-clonic seizure ORPHA:99742
Aceruloplasminemia
Torticollis, Ataxia, Akinesia, Tremor, Limb ataxia, Gait ataxia, Blepharospasm, Cognitive impairm... ORPHA:48818
Tay-Sachs Disease
Psychomotor deterioration, Seizure, Exaggerated startle response, Dementia OMIM:272800
Morgagni-Stewart-Morel Syndrome
Obesity, Depression, Seizure, Cognitive impairment, Memory impairment ORPHA:77296
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Ataxia, Tonic seizure, Repetitive compulsive behavior, Inability to walk, Bruxism, Generalized no... OMIM:300260
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Dystonia, Ataxia, Impulsivity, Precocious puberty, Tip-toe gait, Agitation, Attention deficit hyp... OMIM:619950
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Aggressive behavior, Obesity, Seizure, Self-injurious behavior... OMIM:600430
Autosomal Recessive Spastic Paraplegia Type 11
Short attention span, Ataxia, Overweight, Mental deterioration, Obesity, Memory impairment, Seizu... ORPHA:2822
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclonus ORPHA:309155
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Bulimia, Obesity OMIM:614651
Adiposis Dolorosa
Obesity, Depression, Seizure, Paresthesia, Memory impairment ORPHA:36397
Insulin-Like Growth Factor I Deficiency
Short attention span, Hyperactivity, Decreased body weight OMIM:608747
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Mental deterioration, Generalized no... ORPHA:395
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure, Head-banging OMIM:619356
Alternating Hemiplegia Of Childhood
Bilateral tonic-clonic seizure, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior,... ORPHA:2131
Leopard Syndrome 1
Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the ovary, Mic... OMIM:151100
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Agenesis of corpus callo... OMIM:615802
Supranuclear Palsy, Progressive, 1
Axial dystonia, Akinesia, Tremor, Irritability, Falls, Gait imbalance, Retrocollis, Limb dystonia... OMIM:601104
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Optic atrop... OMIM:616881
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Thyroiditis, Polycystic ovaries, Menorrhagia, Delayed puberty, Hypothyroi... ORPHA:79259
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Impulsivity, Increased circulating g... ORPHA:99330
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Seizure, Abnormal temper tantrums, Abnormal repetitive mannerisms ORPHA:530983
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Premature ovarian insufficiency, Postural tremor, Action tremor, Dysmetria, Gait ... OMIM:300623
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Dystonia, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia... OMIM:610217
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Cerebellar hypoplasia, ... OMIM:620327
Hijazi-Reis Syndrome
Seizure, Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Dystonia, Tremor, Inability to walk, Typical ... ORPHA:845
Intellectual Developmental Disorder, Autosomal Dominant 42
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal hemiclonic seizure, Focal-... OMIM:616973
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Bilateral tonic-clonic seizure, Seizure, Athetosis, Focal impaired awareness seizure, Polydipsia,... ORPHA:369929
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Athetosis,... OMIM:617302
Insulinoma
Increased body weight, Seizure, Transient global amnesia, Paresthesia, Abnormality of pain sensat... ORPHA:97279
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Generalized-onset seizure, Gait ataxia, Difficulty walking, Dystonia, Abnormal ... OMIM:617807
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Bruxism OMIM:616351
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Gait disturbance, Attention deficit ... ORPHA:43
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Decreased fertility, Abnormal testis morphology, Hypogonadism, Obesity ORPHA:2233
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Ataxia, Bilateral tonic-clonic sei... ORPHA:42
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Dysplastic corpus c... OMIM:617281
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Agitation, Status epilepticus, Polyphagia ORPHA:276556
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Obesity, Oligomenorrhea OMIM:604931
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Myoclonic spasms, Depression OMIM:184850
Hyperekplexia 2
Exaggerated startle response, Myoclonus OMIM:614619
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Self-injurious behavior, Seizure, Gait disturbance, Attention defici... OMIM:300986
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... OMIM:614837
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Seizure, Tics, Attention deficit hyperactivity disorder OMIM:617808
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Hypoglycemic seizu... ORPHA:480864
Early Infantile Epileptic Encephalopathy
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Foca... ORPHA:1934
Rett Syndrome
Inability to walk, Seizure, Gait disturbance, Agitation, Difficulty walking, Dystonia, Abnormal r... ORPHA:778
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Obesity, Decreased fertility, Hypogonadism... ORPHA:2234
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Seizure, Compulsive behaviors, Abnormal repe... OMIM:618430
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Short attention span, Hyperactivity, Obesity, Tall stature OMIM:618089
Galloway-Mowat Syndrome 6
Seizure, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter OMIM:618347
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Seizure, Abnormal repetitive mannerisms OMIM:613443
48,Xxyy Syndrome
Ataxia, Tremor, Depression, Seizure, Attention deficit hyperactivity disorder, Abnormal repetitiv... ORPHA:10
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Seizure, Short attention span, Obesity, Aggressive behavior OMIM:619056
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
Rett Syndrome
Dystonia, Gait apraxia, Bruxism, Gait ataxia, Seizure, Truncal ataxia, Motor deterioration, Stere... OMIM:312750
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Attention defici... ORPHA:435638
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting, Seizure, Abnormal repetitive mannerisms ORPHA:3306
Ochoa Syndrome
Cryptorchidism, Polydipsia ORPHA:2704
5Q14.3 Microdeletion Syndrome
Seizure, Abnormal repetitive mannerisms ORPHA:228384
Secondary Non-Traumatic Avascular Necrosis
Addictive alcohol use, Difficulty walking ORPHA:399180
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Agitation, Status epilepticus, Polyphagia ORPHA:276575
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Hypogonadism, Vagina... OMIM:209900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Exaggerated startle response, Agyria, Hydrocephalus, Lissencephaly, Cerebellar hyp... OMIM:253800
Snijders Blok-Campeau Syndrome
Broad-based gait, Infantile spasms, Unsteady gait, Myoclonic seizure, Attention deficit hyperacti... OMIM:618205
Congenital-Onset Steinert Myotonic Dystrophy
Bradyphrenia, Short attention span, Hyperactivity, Obesity, Dysphagia, Decreased body weight ORPHA:589821
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Hypospadias ORPHA:141333
Acth-Independent Macronodular Adrenal Hyperplasia
Depression, Truncal obesity, Agitation, Mental deterioration, Emotional lability OMIM:219080
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Dystonia, Ataxia, Akinesia, Retinal degeneration, Tremor, Optic atrophy, Phonic ti... OMIM:234200
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Choreoacanthocytosis
Chorea, Compulsive behaviors, Impaired vibratory sensation, Self-mutilation of tongue and lips du... ORPHA:2388
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:261534
Rabson-Mendenhall Syndrome
Enlarged ovaries, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes mellitus, Long p... ORPHA:769
Den Hoed-De Boer-Voisin Syndrome
Short attention span, Ataxia, Generalized clonic seizure, Overweight, Focal-onset seizure, Genera... OMIM:619229
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Agitation, Status epilepticus, Polyphagia ORPHA:276580
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Micropenis, Hypoplasia of the ovary, Decreased testicular size OMIM:619321
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Hyperactivity, Ataxia, Hypospadias, Abnormal eating behav... ORPHA:209905
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... OMIM:619835
Angelman Syndrome
Hyperactivity, Ataxia, Infantile spasms, Aggressive behavior, Tongue thrusting, Polyphagia, Obesi... ORPHA:72
Intellectual Developmental Disorder, Autosomal Dominant 53
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Irritability, Overgrowth... OMIM:617798
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Ataxia, Aggressive behavior, Pica, Obesity, Seizure, Status epilepticus OMIM:620191
Metachromatic Leukodystrophy, Adult Form
Short attention span, Progressive psychomotor deterioration, Depression, Memory impairment, Progr... ORPHA:309271
Intellectual Developmental Disorder, Autosomal Dominant 54
Bilateral tonic-clonic seizure, Small for gestational age, Ataxia, Aggressive behavior, Seizure, ... OMIM:617799
4Q21 Microdeletion Syndrome
Tremor, Self-injurious behavior, Seizure, Abnormal repetitive mannerisms ORPHA:238750
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Seizure, Low frustration tolerance, Abnormal repetitive mannerisms, S... OMIM:300486
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycyst... ORPHA:201
Alazami Syndrome
Abnormal eating behavior, Seizure, Abnormal repetitive mannerisms, Self-mutilation, Stereotypical... ORPHA:319671
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short attention span, Hyperactivity, Small for gestational age, Truncal obesity, Attention defici... ORPHA:73272
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Broad-based gait, Increased body weight OMIM:614450
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Seizure, Failure to thrive, Bilateral tonic-clonic seizure, Focal impaired awareness seizure ORPHA:488613
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Bilateral tonic-clonic seizure, Ataxia, Large for gestational age, Generalized non-motor (absence... OMIM:615398
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, Obesity, External genital hypoplasia ORPHA:363741
Nmda Receptor Encephalitis
Short attention span, Generalized-onset seizure, Confusion, Oculogyric crisis, Hypersexuality, Fo... ORPHA:217253
Potocki-Lupski Syndrome
Seizure, Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia OMIM:610883
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Compulsive behaviors, Impaire... OMIM:612469
Ataxia-Oculomotor Apraxia 4
Ataxia, Obesity, Cognitive impairment OMIM:616267
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Inability to walk, Seizure, Myo... OMIM:300672
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Dystonia, E... ORPHA:309263
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Myoclonic seizure, Abnormal repetitive mannerisms, Infantile spasms, Dysphagia ORPHA:572013
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Focal-onset seizure, Inability to walk, Seizure, Status epilepticus, Dysphagia, Abnormal repetiti... OMIM:617802
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Myoclonic seizure, Seizure, Dementia, Dystonia OMIM:272750
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure OMIM:618120
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Seizure, Self-injurious behavior, Increased body weight, Aggressive behavior OMIM:300860
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Chorea, Bilateral tonic-clonic seizure, Truncal ataxia ORPHA:369840
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Seizure, Abnormal repetitive mannerisms ORPHA:529965
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... OMIM:619121
Rett Syndrome, Congenital Variant
Dystonia, Tongue thrusting, Athetosis, Seizure, Irritability, Bruxism, Abnormal repetitive manner... OMIM:613454
Citrullinemia Type Ii
Restlessness, Hyperactivity, Decreased body mass index, Confusion, Aggressive behavior, Abnormal ... ORPHA:247585
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response, Optic atrophy, Optic disc pallor OMIM:609541
Pelger-Huet Anomaly
Seizure, Failure to thrive, Bilateral tonic-clonic seizure OMIM:169400
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight, Depression OMIM:615954
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Irritability, Myoc... ORPHA:447997
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur... ORPHA:457351
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure OMIM:619983
Congenital Myopathy 9A
Akinesia OMIM:618822
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Bilateral tonic-clonic seizure with focal onset, Aggressive behavio... ORPHA:488627
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Pica, Seizure, Irritability, Obsessive-compulsive trait, Abnormal repetitive manne... OMIM:617796
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Irritability, Azoospermia, Hypogonadism, Infe... ORPHA:96263
Digeorge Syndrome
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Parathyroid hypoplasia, Hy... OMIM:188400
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Dystonia, Emotional lability, Abnormal social... ORPHA:309256
Wilson Disease
Aggressive behavior, Hypersexuality, Increased body weight, Depression, Weight loss, Difficulty w... ORPHA:905
Jaberi-Elahi Syndrome
Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia, Choreoathetosis, Failure to thrive OMIM:617988
Developmental And Epileptic Encephalopathy 95
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Seizure, Status... OMIM:618143
Marchiafava-Bignami Disease
Ataxia, Aggressive behavior, Gait ataxia, Gait disturbance, Addictive alcohol use ORPHA:221074
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Tremor, Self-injurious behavior, Seizure, Compulsive behaviors, Dysphagia, A... OMIM:617061
Distal 16P11.2 Microdeletion Syndrome
Seizure, Obesity, Attention deficit hyperactivity disorder ORPHA:261222
Bardet-Biedl Syndrome 8
Hypogonadism, Hypospadias, Obesity OMIM:615985
Melas
Short attention span, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Depression, Se... ORPHA:550
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms ORPHA:397612
Sandhoff Disease
Bilateral tonic-clonic seizure, Ataxia, Impaired temperature sensation, Progressive psychomotor d... OMIM:268800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy, Difficulty walking ORPHA:320406
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Broad-based gait, Ataxia, Seizure, Dystonia ORPHA:438216
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Progressive neurologic deterioration, Large for gestational age, Increased body weight, Seizure, ... ORPHA:263455
Stankiewicz-Isidor Syndrome
Hyperactivity, Hypospadias, Cryptorchidism, Pineal cyst, Abnormal optic disc morphology, Shawl sc... OMIM:617516
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Pseudopseudohypoparathyroidism
Obesity, Cognitive impairment OMIM:612463
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Tremor, Seizure, Gait imbalance, Attention deficit hype... OMIM:619312
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typical absence seiz... ORPHA:466950
Proximal 16P11.2 Microdeletion Syndrome
Obesity, Choreoathetosis, Seizure, Attention deficit hyperactivity disorder, Impaired social inte... ORPHA:261197
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Aggressive behavior, Seizure, Gait disturbance, Attention deficit hyperactivity... OMIM:300352
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure OMIM:271900
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Increased body weight, Clitoral hypoplasia, Compulsiv... ORPHA:398069
22Q11.2 Duplication Syndrome
Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive beh... ORPHA:1727
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Progressive neurologic deterioration, Aggressive behavior OMIM:252920
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Hypoglycemic seizures, Large for gestational age ORPHA:293964
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Micropenis, Hypogonadotropic hyp... ORPHA:398079
Pilarowski-Bjornsson Syndrome
Seizure, Abnormal repetitive mannerisms OMIM:617682
Cri-Du-Chat Syndrome
Short attention span, Hyperactivity, Aggressive behavior, Difficulty walking, Abnormal repetitive... OMIM:123450
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Hyperactivity, Ataxia, Confusion, Inability to walk, Dysmetria, Gait distur... ORPHA:139396
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Seizure, Diminished ability to concentrate, Attention deficit hyperactivity disorder, Com... OMIM:615656
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia, Irregular menstruation OMIM:615986
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:618381
Glass Syndrome
Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Freque... OMIM:612313
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Ab... OMIM:616393
Kleefstra Syndrome Due To 9Q34 Microdeletion
Epileptic spasm, Generalized non-motor (absence) seizure, Obesity, Depression, Seizure, Irritabil... ORPHA:96147
East Syndrome
Salt craving, Ataxia, Inability to walk, Difficulty walking, Polydipsia ORPHA:199343
Angelman Syndrome
Hyperactivity, Ataxia, Obesity, Seizure, Progressive gait ataxia, Paroxysmal bursts of laughter OMIM:105830
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Panhypopituitarism, Oligozoospermia... ORPHA:91351
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Blepharophimosis-Impaired Intellectual Development Syndrome
Seizure, Low frustration tolerance, Attention deficit hyperactivity disorder, Abnormal repetitive... OMIM:619293
Intellectual Developmental Disorder, Autosomal Dominant 48
Seizure, Hyperactivity, Abnormal repetitive mannerisms OMIM:617751
Pigmented Nodular Adrenocortical Disease, Primary, 4
Emotional lability, Increased body weight, Depression OMIM:615830
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Progressive psychomotor deterioration, Obesity, Seizure, Myoclonus, Polyphagia ORPHA:251004
Leprechaunism
Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis, Hyperinsuline... ORPHA:508
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Obe... ORPHA:466943
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Akinesia, Truncal ataxia OMIM:618249
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Gait ataxia, Seizure, Attention deficit hyperactivity disorder, Comp... ORPHA:476126
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Bilateral tonic-clonic seizure, Ataxia, Dysphagia, Febrile seizure (within the age range of 3 mon... ORPHA:496641
Alg9-Cdg
Bicornuate uterus, Hepatic cysts, Hypoplastic nipples, Hypoplasia of the ovary ORPHA:79328
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Seizure, Attention deficit hyperactivity disorder, Frequent temper tantrums, Abnorm... OMIM:619103
Mitochondrial Dna-Associated Leigh Syndrome
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Chorea, Gait ataxia, Seizure, Dysphagia... ORPHA:255210
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Tonic seizure, Seizure, Irritability, Dysphagia, Atonic seizure, Fo... OMIM:618367
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Obesity OMIM:617885
Niemann-Pick Disease, Type C2
Dystonia, Ataxia, Seizure, Dementia, Dysphagia, Abnormal repetitive mannerisms OMIM:607625
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl scrotum, T... ORPHA:2745
Marbach-Schaaf Neurodevelopmental Syndrome
Aggressive behavior, Obesity, Seizure, Attention deficit hyperactivity disorder, Recurrent hand f... OMIM:619680
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Pain insensitivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (abse... OMIM:620224
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:614231
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615501
Familial Cold Urticaria
Polydipsia ORPHA:47045
Molybdenum Cofactor Deficiency, Complementation Group B
Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms, Irritability OMIM:252160
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Compulsive behaviors OMIM:613174
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:620070
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Gait disturbance, Abnormal tempe... ORPHA:500055
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Seizure, Generalized tonic seizure OMIM:617193
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
Coffin-Siris Syndrome 7
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors OMIM:618027
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... OMIM:609734
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Reduced circulating prolactin concentration OMIM:300888
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:614207
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Partial agenesis of the corpus call... OMIM:619512
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Abnormal repetitive manne... OMIM:620073
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Bilateral tonic-clonic seizure with focal onset, Progressive neurologic deterioration, Ob... OMIM:614947
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Aggressive behavior, Shyness, Obesity, Self-injurious behavior, Self-mu... ORPHA:293948
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:98754
Weaver Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Lateral ventric... OMIM:277590
Macrocephaly/Autism Syndrome
Short attention span, Penile freckling, Large for gestational age, Obesity, Hydrocele testis, Ove... OMIM:605309
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic... ORPHA:744
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:177901
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:615474
Biotinidase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Focal motor seizure, Seizure, Generaliz... ORPHA:79241
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... ORPHA:3044
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Teratoma, Pineal
Polydipsia OMIM:273120
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior OMIM:618914
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Short attention span, Torticollis, Inability to walk, Focal-onset seizure, Seizur... ORPHA:300570
White-Sutton Syndrome
Waddling gait, Hyperactivity, Aggressive behavior, Hypoglycemic seizures, Self-injurious behavior... OMIM:616364
1Q44 Microdeletion Syndrome
Agenesis of corpus callosum, Bilateral tonic-clonic seizure ORPHA:238769
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Severe failure to thrive, Bilateral tonic-clonic seizure ORPHA:423479
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Emotional lability, Depression, Abdominal obesity, Cognitive impairment, M... ORPHA:189427
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... ORPHA:488618
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Seizure, Low frustration tolerance, Abnormal temper t... ORPHA:457279
Familial Hyperaldosteronism Type I
Polydipsia, Adrenal hyperplasia ORPHA:403
Japanese Encephalitis
Bilateral tonic-clonic seizure, Anorexia, Focal motor seizure, Choreoathetosis, Status epilepticu... ORPHA:79139
Sotos Syndrome
Aggressive behavior, Partial agenesis of the corpus callosum, Increased body weight, Seizure, Ove... OMIM:117550
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Overweight, Head-banging, Seizure, Self-injurious behavior, Lateral ventric... OMIM:619575
Gaucher Disease, Perinatal Lethal
Opisthotonus, Akinesia, Progressive neurologic deterioration OMIM:608013
Cystinosis
Polydipsia, Abnormal repetitive mannerisms, Gait disturbance ORPHA:213
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure, Large for gestational age, Gait ataxia, Disproportionate tall sta... ORPHA:457359
Smith-Magenis Syndrome
Self-injurious behavior, Seizure, Gait disturbance, Attention deficit hyperactivity disorder, Abn... ORPHA:819
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Seizure, Abnormal repetitive mannerisms ORPHA:500159
Hyperphosphatasia-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Ataxia ORPHA:247262
Limb-Mammary Syndrome
Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl... ORPHA:69085
Congenital Myopathy 12
Akinesia OMIM:612540
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Generalized-onset seizure, Seizure, Cognitive impairment, Dysphagia OMIM:617527
Webb-Dattani Syndrome
Bilateral tonic-clonic seizure, Obesity OMIM:615926
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Mitochondrial Trifunctional Protein Deficiency 2
Seizure, Bilateral tonic-clonic seizure OMIM:620300
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Decreas... ORPHA:478
Warburg Micro Syndrome 3
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:614222
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Dysphagia OMIM:617301
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonic seizure, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Intention tremor, Res... OMIM:619475
Williams Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Polycysti... ORPHA:904
Kinsship Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619297
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
Cocaine Intoxication
Bilateral tonic-clonic seizure, Focal-onset seizure, Atypical absence status epilepticus, Seizure... ORPHA:90068
Foxg1 Syndrome Due To 14Q12 Microdeletion
Seizure, Abnormal repetitive mannerisms ORPHA:261144
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Adrenal hyperplasia OMIM:613677
Bardet-Biedl Syndrome 6
Vaginal atresia, Hypospadias, Obesity, External genital hypoplasia OMIM:605231
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Infantile spasms OMIM:618733
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Generalized-onset seizure, Small for gestational age, Bilateral tonic-clonic sei... OMIM:620024
Lujo Hemorrhagic Fever
Bilateral tonic-clonic seizure, Confusion, Seizure, Dysphagia, Mental deterioration ORPHA:319213
Mosaic Variegated Aneuploidy Syndrome 1
Bilateral tonic-clonic seizure, Small for gestational age, Seizure, Generalized myoclonic seizure... OMIM:257300
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Bilateral tonic-clonic seizure, Ataxia, Seizure, Myoclonus, Failure to thrive OMIM:618426
De Sanctis-Cacchione Syndrome
Mental deterioration, Bilateral tonic-clonic seizure, Choreoathetosis, Ataxia OMIM:278800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Pain insensitivity, Bilateral tonic-clonic seizure, Aggressive behavior, Hair-pullin... OMIM:620330
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Polydipsia, Hypoplasia of penis, Anterior pituitary hypoplasia ORPHA:3157
2Q37 Microdeletion Syndrome
Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive beh... ORPHA:1001
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Methanol Poisoning
Addictive alcohol use ORPHA:31825
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non-motor (absence) s... ORPHA:513456
Panhypophysitis
Decreased female libido, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... ORPHA:95513
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Gait ataxia, Abnormal repetitive mannerisms, Overfriendliness OMIM:616579
Bardet-Biedl Syndrome 17
Polydipsia, Hypogonadism, Micropenis OMIM:615994
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Pediatric-Onset Graves Disease
Hyperactivity, Polydipsia, Polyphagia, Goiter ORPHA:525731
Wiedemann-Steiner Syndrome
Psychomotor deterioration, Short attention span, Hyperactivity, Aggressive behavior, Seizure, Low... ORPHA:319182
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia OMIM:619147
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Kleefstra Syndrome 1
Seizure, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:610253
Combined Oxidative Phosphorylation Deficiency 3
Seizure, Ataxia, Bilateral tonic-clonic seizure, Cognitive impairment OMIM:610505
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Renal cyst, Micropenis, Central hypothyroidism, Annular pancreas ORPHA:798
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hyperactivity, Agitation, Weight loss ORPHA:424
Fg Syndrome Type 1
Broad-based gait, Hypospadias, Cryptorchidism, Small pituitary gland, Compulsive behaviors, Atten... ORPHA:93932
Asparagine Synthetase Deficiency
Exaggerated startle response, Tremor, Clonic seizure, Seizure, Irritability OMIM:615574
Phelan-Mcdermid Syndrome
Broad-based gait, Aggressive behavior, Unsteady gait, Tongue thrusting, Seizure, Bruxism, Abnorma... OMIM:606232
Dilated Cardiomyopathy With Ataxia
Ataxia, Repetitive compulsive behavior, Seizure, Dystonia, Action tremor ORPHA:66634
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Unsteady gait, Seizure, Abnormal repetitive mannerisms, Self-mutilation, Ste... OMIM:212066
Familial Hyperaldosteronism Type Iii
Polydipsia, Adrenal hyperplasia ORPHA:251274
Isolated Permanent Neonatal Diabetes Mellitus
Bilateral tonic-clonic seizure, Ataxia, Weight loss, Generalized myoclonic seizure, Failure to th... ORPHA:99885
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Seizure, Focal impaired awareness se... ORPHA:468678
Staphylococcal Necrotizing Pneumonia
Lethargy, Addictive alcohol use ORPHA:36238
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Generalized myoclonic... OMIM:614756
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Bilateral tonic-clonic seizure, Small for gestational age, Failure to thrive in infancy, Aggressi... ORPHA:268261
Hallermann-Streiff Syndrome
Small for gestational age, Hyperactivity, Bilateral tonic-clonic seizure, Choreoathetosis OMIM:234100
Hermansky-Pudlak Syndrome 10
Bilateral tonic-clonic seizure, Focal myoclonic seizure OMIM:617050
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cry... ORPHA:353281
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Seizure, Exaggerated startle response, Dystonia ORPHA:521426
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Obesity, Generalized non-motor (absence) seizure, Generalized myo... ORPHA:369837
Trichotillomania
Hair-pulling OMIM:613229
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure OMIM:301040
Whipple Disease
Erectile dysfunction, Polydipsia, Ataxia, Anorexia ORPHA:3452
Niemann-Pick Disease Type C
Axial dystonia, Dystonia, Ataxia, Progressive neurologic deterioration, Tremor, Depression, Progr... ORPHA:646
Arthrogryposis Multiplex Congenita 5
Dystonia, Akinesia, Hand tremor OMIM:618947
Dpagt1-Cdg
Ataxia, Akinesia, Tremor, Inability to walk, Emotional blunting ORPHA:86309
Megalocornea-Intellectual Disability Syndrome
Seizure, Abnormal repetitive mannerisms, Ataxia ORPHA:2479
Rauch-Steindl Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619695
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Generalized-onset seizure, Atonic seizure, Truncal ataxia, Bilateral tonic-clonic seizure OMIM:620066
Isolated Osteopoikilosis
Addictive alcohol use ORPHA:166119
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Bilateral tonic-clonic seizure, Large for gestational age, Myoclonic seizure, Gait ataxia, Seizur... OMIM:280000
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Weight loss ORPHA:99819
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polydipsia, Salt craving, Ataxia, Dysdiadochokinesis OMIM:612780
Acute Lung Injury
Addictive alcohol use ORPHA:178320
Nephronophthisis 4
Polydipsia OMIM:606966
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Adrenal hyperplasia ORPHA:231580
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Adrenocortical Carcinoma
Irritability, Increased body weight, Weight loss ORPHA:1501
Joubert Syndrome 6
Abnormal repetitive mannerisms, Ataxia OMIM:610688
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia OMIM:304800
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure, Failure to thrive in infancy ORPHA:79124
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, External ge... ORPHA:177907
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Self-biting, Choreoathetosis, Dystonia, Abnormal repetiti... ORPHA:522077
Histidinemia
Hyperactivity ORPHA:2157
Bardet-Biedl Syndrome 12
Hydrometrocolpos, Obesity, Hypogonadism, Cognitive impairment, Vaginal atresia OMIM:615989
Acute Promyelocytic Leukemia
Metrorrhagia, Addictive alcohol use, Anorexia ORPHA:520
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Tuberous Sclerosis Complex
Hyperactivity, Epileptic spasm, Impulsivity, Aggressive behavior, Infantile spasms, Repetitive co... ORPHA:805
Alström Syndrome
Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado... ORPHA:64
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Memory impairment, Abnormal s... ORPHA:314647
D-Bifunctional Protein Deficiency
Seizure, Failure to thrive, Bilateral tonic-clonic seizure OMIM:261515
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Seizure, Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder OMIM:619005
Aspartylglucosaminuria
Macroorchidism ORPHA:93
Aspartylglucosaminuria
Macroorchidism OMIM:208400
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Herpes Simplex Virus Encephalitis
Addictive alcohol use ORPHA:1930
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Bainbridge-Ropers Syndrome
Inability to walk, Self-injurious behavior, Seizure, Recurrent hand flapping, Abnormal repetitive... OMIM:615485
Nephrogenic Diabetes Insipidus
Polydipsia, Anorexia ORPHA:223
Kleefstra Syndrome
Aggressive behavior, Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Self-mutil... ORPHA:261494
Legius Syndrome
Short attention span, Hyperactivity, Dystonia, Ovarian neoplasm, Vestibular schwannoma, Male uret... ORPHA:137605
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, High urinary gonadotr... ORPHA:881
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Impaired pain sensation, Obesity, Depression, Seizure, Self-injurious behavi... ORPHA:293987
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Addictive alcohol use ORPHA:90065
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Mucopolysaccharidosis Type 2
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Progressive neurologic det... ORPHA:580
Nephronophthisis 3
Polydipsia OMIM:604387
Pitt-Hopkins Syndrome
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Gait ataxia OMIM:610954
Nephronophthisis 1
Polydipsia OMIM:256100
Gaucher Disease
Ataxia, Bilateral tonic-clonic seizure, Depression, Dysphagia, Generalized myoclonic seizure ORPHA:355
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Unsteady gait, Polyphagia, Dysmetria, Self-inj... ORPHA:96121
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizu... OMIM:301044
Gm1 Gangliosidosis Type 1
Seizure, Exaggerated startle response, Dystonia ORPHA:79255
Mitochondrial Complex I Deficiency, Nuclear Type 1
Failure to thrive, Bilateral tonic-clonic seizure, Ataxia OMIM:252010
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior, Irritability, Abnormal aggressive, impulsive or viol... ORPHA:1675
Van Esch-O'Driscoll Syndrome
Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity OMIM:301030
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Short attention span, Multifocal seizures, Aggressive behavior, Seizure, Abnormal repetitive mann... OMIM:301066
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Generalized-onset seizure, Inability to walk, Opisthotonus, Seizure, Abnormal repetitive manneris... ORPHA:508533
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Tonic seizure, Abnormal repetitive mannerisms, Typical absence seizure, Bruxism, S... OMIM:615873
Apparent Mineralocorticoid Excess
Polydipsia ORPHA:320
Mend Syndrome
Cryptorchidism, Hyperactivity, Abnormal social behavior, Aggressive behavior ORPHA:401973
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... ORPHA:99880
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Helix Syndrome
Polydipsia, Hyperparathyroidism OMIM:617671
Senior-Boichis Syndrome
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:84081
Nephronophthisis 11
Polydipsia OMIM:613550
Gitelman Syndrome
Polydipsia, Salt craving, Ataxia OMIM:263800
Wolfram Syndrome
Hypogonadism, Male hypogonadism, Polydipsia, Ataxia ORPHA:3463
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Ataxia, Truncal ataxia, Dysmetria, Gait ataxia, Seizure, Dysphagia, Abnormal re... OMIM:617330
African Trypanosomiasis
Akinesia, Tremor, Choreoathetosis, Irritability, Gait disturbance, Difficulty walking, Delirium ORPHA:3385
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Simple febrile seizure, Seizure, Gait disturbance, Attention deficit hyperactivity disorder, Abno... ORPHA:464311
Hyperparathyroidism, Neonatal Severe
Polydipsia, Primary hyperparathyroidism OMIM:239200
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... ORPHA:143
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Seizure, Febrile seizure (within the... ORPHA:459070
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Hypospadias, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of th... ORPHA:93111
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Self-injurious ... OMIM:612474
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Exaggerated startle response, Epileptic spasm, Dystonia, Inability to walk, Sei... ORPHA:438213
Ogden Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Irritability, Dysphagia, Abnormal repe... OMIM:300855
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Hypospadias, Cryptorchidism, Hydrocele testis, Chordee, Attention d... OMIM:619522
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cry... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cry... ORPHA:353277
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Dysmetria, Gait ataxia, Depression, Impotence, Dementia, Gait disturbance, Abnormal auton... ORPHA:93256
Cushing Disease
Increased body weight, Emotional lability, Depression, Truncal obesity, Abdominal obesity, Dement... ORPHA:96253
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Renal Hypoplasia
Polydipsia ORPHA:93101
Holoprosencephaly 14
Partial agenesis of the corpus callosum, Bilateral tonic-clonic seizure OMIM:619895
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Seizure, Gait disturbance, Febrile seizure (within the age range of 3 months to 6 ... ORPHA:464306
Erdheim-Chester Disease
Polydipsia, Ataxia, Hypogonadotropic hypogonadism ORPHA:35687
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Ethylene Glycol Poisoning
Addictive alcohol use, Ataxia ORPHA:31826
Cirrhotic Cardiomyopathy
Addictive alcohol use ORPHA:57777
Hartsfield Syndrome
Agenesis of corpus callosum, Bilateral tonic-clonic seizure OMIM:615465
Toxic Epidermal Necrolysis
Polydipsia, Abnormal vagina morphology, Dysphagia ORPHA:537
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocio... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocio... ORPHA:363958
Porphyria Cutanea Tarda
Addictive alcohol use ORPHA:101330
Oligomeganephronia
Polydipsia ORPHA:2260
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms ORPHA:468631
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Seizure, Unsteady gait, Abnormal repetitive mannerisms OMIM:616682
Oculocerebrorenal Syndrome Of Lowe
Depression, Self-injurious behavior, Seizure, Compulsive behaviors, Attention deficit hyperactivi... ORPHA:534
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Increased body weight, Emotional lability, Depression, Weight loss, Truncal obesity, De... ORPHA:99889
Sotos Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Sei... ORPHA:821
Arboleda-Tham Syndrome
Dysphagia, Seizure, Gait imbalance, Dystonia, Abnormal repetitive mannerisms OMIM:616268
Arima Syndrome
Polydipsia, Ataxia OMIM:243910
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms, Difficulty walking OMIM:618653
Hypomagnesemia 3, Renal
Polydipsia OMIM:248250
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Seizure, Hyperactivity, Abnormal repetitive mannerisms OMIM:309590
Infantile Nephropathic Cystinosis
Polydipsia ORPHA:411629
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Cystinosis, Nephropathic
Male infertility, Oral-pharyngeal dysphagia, Dysphagia, Male hypogonadism, Polydipsia OMIM:219800
Doors Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure ORPHA:79500
1P36 Deletion Syndrome
Polyphagia, Self-injurious behavior, Seizure, Gait disturbance, Dysphagia, Abnormal repetitive ma... ORPHA:1606
Gitelman Syndrome
Parathyroid adenoma, Polydipsia, Salt craving, Neoplasm of the pancreas ORPHA:358
Norrie Disease
Self-injurious behavior, Seizure, Irritability, Attention deficit hyperactivity disorder, Abnorma... ORPHA:649
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms ORPHA:508498
Distal Renal Tubular Acidosis
Polydipsia ORPHA:18
Juvenile Nephropathic Cystinosis
Polydipsia ORPHA:411634
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia OMIM:602522
Primrose Syndrome
Restlessness, Ataxia, Aggressive behavior, Self-injurious behavior, Seizure, Tics, Attention defi... OMIM:259050
Hellp Syndrome
Increased body weight ORPHA:244242
Lowe Oculocerebrorenal Syndrome
Seizure, Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Autosomal Recessive Polycystic Kidney Disease
Biliary hyperplasia, Polydipsia, Pancreatic cysts ORPHA:731
Coffin-Siris Syndrome 12
Seizure, Abnormal repetitive mannerisms OMIM:619325
Monosomy 22Q13.3
Hair-pulling ORPHA:48652
Proximal Renal Tubular Acidosis
Polydipsia ORPHA:47159
Kabuki Syndrome 1
Seizure, Lateral ventricle dilatation, Focal impaired awareness seizure, Bilateral tonic-clonic s... OMIM:147920
Wolf-Hirschhorn Syndrome
Seizure, Abnormal repetitive mannerisms OMIM:194190
Bartter Syndrome, Type 2, Antenatal
Polydipsia OMIM:241200
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Inability to walk, Focal-onset seizure, Bruxism, Seizure, Status epilep... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Inability to walk, Focal-onset seizure, Bruxism, Seizure, Atypical absence seiz... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Inability to walk, Focal-onset seizure, Bruxism, Seizure, Atypical absence seiz... ORPHA:261552
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360

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 Fmr1

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 Fmr1.

No publications found that use IMPC mice or data for Fmr1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Fmr1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Fmr1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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