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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
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
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Familial Alzheimer-Like Prion Disease
Depression, Emotional lability, Attention deficit hyperactivity disorder, Cognitive impairment, D... ORPHA:280397
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Epilepsy, Nocturnal Frontal Lobe, 2
Aggressive behavior, Depression, Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Slender build, Aggressive behavior, Bilateral tonic-clonic seizure, Ataxia OMIM:617709
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:617787
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Restrictive behavior, Seizure, Inflexible adherence ... OMIM:608636
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Restrictive behavior, Motor stereotypy, Inflexible a... OMIM:608631
Schizophrenia 15
Hyperactivity OMIM:613950
Rudiger Syndrome
Micropenis, Bicornuate uterus, Ovarian cyst OMIM:268650
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Focal clonic seizure, Epileptic spasm, Irritability, Tonic seizure, Bilateral ... OMIM:615006
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Depression, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Dementia OMIM:162350
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur... OMIM:619970
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Mental deterioration, Depression, Myoclonus, Status epilepticus without prominent motor symptoms,... OMIM:204300
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Depression, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder,... OMIM:619191
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Emotional lability, Aggressive behavior, Bilateral tonic-clonic seizure, Motor stereotypy, Status... OMIM:617171
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Mental deterioration, Irritability, Bilateral tonic-clonic seizure, Restlessness, Focal impaired ... OMIM:610003
Polymicrogyria, Bilateral Temporooccipital
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Aggressive beh... OMIM:612691
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Developmental And Epileptic Encephalopathy 43
Ataxia, Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hyperactiv... OMIM:617113
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines OMIM:300425
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Depression, Seizure, Confusion, Myoclonus, Gait ataxia, Emotional lability,... OMIM:615362
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia ORPHA:22
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Diabetes mellitus, Polycystic ovaries ORPHA:79084
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Tremor, Irritab... ORPHA:3077
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Aggressive behavior, Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure OMIM:619639
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant... ORPHA:90301
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Autosomal Dominant Epilepsy With Auditory Features
Focal autonomic seizure, Depression, Generalized-onset seizure, Bilateral tonic-clonic seizure wi... ORPHA:101046
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Small for gestational age, Focal impaired awareness seizure, Seizure, Focal-onset seizure, Attent... OMIM:245570
Autism
Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines OMIM:209850
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines OMIM:607373
Developmental And Epileptic Encephalopathy 24
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615871
Landau-Kleffner Syndrome
Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Social and occupationa... ORPHA:98818
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure OMIM:617863
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating hormone concentration,... ORPHA:280356
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:619964
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism OMIM:219050
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure, Ataxia OMIM:616187
Myoclonic Epilepsy Of Infancy
Mental deterioration, Generalized non-motor (absence) seizure, Febrile seizure (within the age ra... ORPHA:86909
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Aggressive behavior, Bilateral tonic... OMIM:618357
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior, Bilateral t... ORPHA:208441
Dravet Syndrome
Ataxia, Mental deterioration, Myoclonic seizure, Focal impaired awareness seizure, Generalized no... OMIM:607208
Lennox-Gastaut Syndrome
Mental deterioration, Myoclonus, Focal-onset seizure, Irritability, Generalized tonic seizure, Ag... ORPHA:2382
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity, Seizure OMIM:300271
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Focal-onset se... ORPHA:725
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Stereotypical hand wringing, Bilateral tonic-... OMIM:616056
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Seizure, Hyperactivity OMIM:615493
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Attention deficit hyperactivity disorder, Oligozoospermia, Macroo... ORPHA:3000
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Cognitive impairment, Bilateral tonic-clonic seizure, Pseudobulbar para... OMIM:300388
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Polycysti... ORPHA:3085
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Spinocerebellar Ataxia 48
Mental deterioration, Depression, Chorea, Gait ataxia, Dysmetria, Irritability, Cachexia, Bilater... OMIM:618093
Familial Adenomatous Polyposis 4
Renal cyst, Thyroid adenoma, Ovarian cyst, Uterine leiomyoma OMIM:617100
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Focal impaired awareness seizure, Seizure, Chorea, Aggressive be... ORPHA:382
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Developmental And Epileptic Encephalopathy 59
Self-injurious behavior, Focal clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-c... OMIM:617904
Epilepsy, Familial Temporal Lobe, 8
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... OMIM:616461
Developmental And Epileptic Encephalopathy 31A
Self-injurious behavior, Myoclonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-cloni... OMIM:616346
Myoclonic Epilepsy Of Unverricht And Lundborg
Mental deterioration, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-clonic ... OMIM:254800
Salt And Pepper Developmental Regression Syndrome
Failure to thrive, Myoclonus, Irritability, Bilateral tonic-clonic seizure, Status epilepticus, C... OMIM:609056
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
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
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... OMIM:620537
Developmental And Epileptic Encephalopathy 53
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilate... OMIM:617389
Rolandic Epilepsy
Depression, Febrile seizure (within the age range of 3 months to 6 years), Dysesthesia, Paresthes... ORPHA:1945
Estrogen Resistance
Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul... OMIM:615363
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:605021
N-Acetylaspartate Deficiency
Broad-based gait, Seizure, Short attention span, Self-mutilation, Truncal ataxia, Unsteady gait, ... OMIM:614063
Epilepsy, Progressive Myoclonic, 8
Progressive neurologic deterioration, Action myoclonus, Limb ataxia, Myoclonus, Bilateral tonic-c... OMIM:616230
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Insulin-resistant diabetes mellitus, Secondary amenorrhea, Hypergonadotropic hypogonadism, Polycy... OMIM:268020
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Myoclonus, Gait ataxia, Agenesis of corpus callosum, Bilateral ton... OMIM:616540
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Depression, Generalized non-motor (absence) ... OMIM:618873
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:79085
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... ORPHA:65683
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Aggressive behavior, Bilate... OMIM:616409
Stxbp1-Related Encephalopathy
Ataxia, Generalized myoclonic seizure, Focal impaired awareness seizure, Seizure, Epileptic spasm... ORPHA:599373
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Mental deterioration, Memory impairment, Inappropriate behavior, Irritabili... ORPHA:275864
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Seizure, Bruxism, Inappropriate laughter, Focal-onset seizure, Aggressive behavior, Ataxia... OMIM:619150
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Seizure, Gait ataxia, Hyperactivity, Dystonia, Dysphagia, Status epilepticus, Impulsivity OMIM:620448
Developmental And Epileptic Encephalopathy 98
Refractory status epilepticus, Focal-onset seizure, Attention deficit hyperactivity disorder, Clo... OMIM:619605
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:617831
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (a... ORPHA:36387
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Aplasi... OMIM:277000
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Primary Dystonia, Dyt13 Type
Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Action tremor, Craniofaci... ORPHA:98807
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Aggressive behavior, Attenti... OMIM:619157
Epilepsy, Progressive Myoclonic, 6
Ataxia, Memory impairment, Generalized non-motor (absence) seizure, Myoclonus, Bilateral tonic-cl... OMIM:614018
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Dysmetria, Delayed early-childhood social milestone development, Tonic seizure, Hype... OMIM:618090
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Typical absence seizure, Failure to thrive, Gait ataxia, Myoclonus, Focal hemi... OMIM:620145
Partington Syndrome
Macroorchidism, Limb dystonia ORPHA:94083
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Gait ataxia, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic sei... OMIM:618587
Spinocerebellar Ataxia Type 27
Memory impairment, Depression, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxi... ORPHA:98764
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Motor stereotypy, Generalized myoclonic seizure, Seizure OMIM:616341
Epilepsy, Familial Focal, With Variable Foci 4
Focal impaired awareness seizure, Focal-onset seizure, Attention deficit hyperactivity disorder, ... OMIM:617935
Distal Deletion 10P
Hypoplasia of penis, Cryptorchidism, Polycystic ovaries ORPHA:1580
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Atonic seizure OMIM:309530
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... OMIM:254770
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Decreased testicular size OMIM:619528
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Familial Focal Epilepsy With Variable Foci
Paresthesia, Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizures, Bilateral t... ORPHA:98820
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Type II diabetes mellitus, Polycystic ovaries, Delayed puberty,... ORPHA:100
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Recurrent hand flapping, Focal hemiclonic seizure, Tonic... OMIM:618141
Episodic Ataxia, Type 9
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clon... OMIM:618924
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Foxg1 Syndrome
Bruxism, Infantile spasms, Myoclonus, Focal-onset seizure, Reduced social reciprocity, Decreased ... ORPHA:561854
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:613721
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Hand tremor, Recurrent hand flapping, Gait ataxia, Dysphagia, Bilateral tonic-c... OMIM:617862
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure, Ataxia OMIM:618709
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic status epilepticus,... OMIM:611726
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:435651
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis OMIM:614840
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Developmental And Epileptic Encephalopathy 27
Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Bilateral tonic... OMIM:616139
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy, Reduced social reciprocity OMIM:606053
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia OMIM:619145
Developmental And Epileptic Encephalopathy 107
Tonic seizure, Motor stereotypy, Clonic seizure, Seizure OMIM:620033
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Febrile seizure (within the age range of 3 months to 6 years), Chorea, G... OMIM:618917
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Tonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:613722
Intellectual Developmental Disorder, Autosomal Recessive 64
Aggressive behavior, Reduced social reciprocity OMIM:618103
Hyperprolinemia, Type I
Seizure, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy, Status epilepticus OMIM:239500
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Bilateral tonic-clonic seizure, Seizure OMIM:614499
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:263516
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Memory impairment, Inappropriate behavior, Myoclonus, Disinhibition, Aggressive behavior, Gait di... OMIM:600795
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines OMIM:300495
Lipodystrophy, Familial Partial, Type 3
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... OMIM:604367
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Lateral ventricle dilatation, Infantile spasms, Focal atonic seizu... ORPHA:101071
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ... OMIM:613855
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
Pick Disease Of Brain
Inappropriate laughter, Irritability, Disinhibition, Polyphagia, Frontotemporal dementia, Emotion... OMIM:172700
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... ORPHA:64739
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity, Polyphagia, Reduced social reciprocity ORPHA:329249
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Spermatocyte maturation arrest, Decreased testicul... OMIM:617960
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis OMIM:617270
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Developmental And Epileptic Encephalopathy 97
Seizure, Inability to walk, Epileptic spasm, Tremor, Stereotypical hand wringing OMIM:619561
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ... OMIM:619317
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... OMIM:615300
Developmental Delay With Or Without Epilepsy
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Febrile seizure (wit... OMIM:620540
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Congenital stationary night blindness, Attention deficit... ORPHA:8
Childhood Disintegrative Disorder
Mental deterioration, Seizure, Abnormal emotion, Motor deterioration, Social and occupational det... ORPHA:168782
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog... ORPHA:435660
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy OMIM:620065
Parasomnia, Sleep Bruxism Type
Bruxism, Myoclonus OMIM:606840
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Seizure, Generalized-onset se... OMIM:619827
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Myoclonus, Seizure OMIM:615127
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Shuffling gait, Resting tremor, Bruxism, Emotional lability, Tremor, Macroorch... OMIM:300055
Hartnup Disorder
Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia, Hyperactivity OMIM:234500
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Infantile spasms, Focal-onset seizure, Agenesis of corpus callosum, Bilateral ... OMIM:619302
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Benign Familial Neonatal-Infantile Seizures
Mental deterioration, Neonatal seizure, Episodic ataxia, Focal clonic seizure, Tonic seizure, Bil... ORPHA:140927
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Seizure, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Status epilepticus, Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity OMIM:300143
Febrile Seizures, Familial, 4
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609253
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Precocious puberty, Premature adrenarche, Clitoral hypertrophy, Long penis, Irregular menstruatio... ORPHA:90795
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
Centralopathic Epilepsy
Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure OMIM:117100
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Aggressive behavior, H... OMIM:271980
Fragile X Syndrome
Recurrent hand flapping, Macroorchidism, postpubertal, Hyperactivity, Self-biting, Congenital mac... OMIM:300624
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Infantile spasms, Focal-onset seizure, Agenesis of corpus callosum, Bilateral ... OMIM:619301
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Developmental And Epileptic Encephalopathy 52
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Focal hemicl... OMIM:617350
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Mitochondrial Complex I Deficiency, Nuclear Type 12
Seizure, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Dementia, Generalized myoclonic seizu... OMIM:301020
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Epileptic spasm, Bruxism, Myoclonus, Stereotypical hand wringing, Ton... OMIM:618497
Developmental And Epileptic Encephalopathy 58
Inability to walk, Motor stereotypy, Status epilepticus, Seizure OMIM:617830
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... ORPHA:243
Pandas
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Emotional labi... ORPHA:66624
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure, Large for gestational age, Obesity, Truncal obesity OMIM:240900
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentra... ORPHA:85327
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclonus, Bil... ORPHA:139426
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Seizure, Difficulty walking, Infantile spasms, Irritability, Tonic seizure, Nocturnal seizures, M... OMIM:617393
Yoon-Bellen Neurodevelopmental Syndrome
Failure to thrive, Infantile spasms, Bilateral tonic-clonic seizure, Ataxia, Generalized myocloni... OMIM:619701
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Depression, Generalized non-motor (absence) seizure, Seizure, Chorea, In... ORPHA:485350
Lissencephaly 3
Seizure, Agenesis of corpus callosum, Generalized tonic seizure, Bilateral tonic-clonic seizure, ... OMIM:611603
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Ovarian neoplasm OMIM:604370
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Manganese Poisoning
Depression, Memory impairment, Confusion, Inappropriate laughter, Postural tremor, Akinesia, Emot... ORPHA:306682
Intellectual Developmental Disorder, Autosomal Recessive 6
Kinetic tremor, Postural tremor, Reduced social reciprocity, Torticollis OMIM:611092
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Seizure, Inability to walk, Dystonia, Motor stereotypy OMIM:617820
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Preeclampsia
Type I diabetes mellitus, Polycystic ovaries ORPHA:275555
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Dysplastic corpus callosum, Seizure, Ataxia OMIM:620317
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma OMIM:613399
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Micropenis ORPHA:335
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Breast ... ORPHA:432
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Short attention span, Focal-onset seizure, Seizure ORPHA:163721
Fragile X Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Macroorchidism, Irritability ORPHA:908
Developmental And Epileptic Encephalopathy 42
Convulsive status epilepticus, Myoclonic seizure, Tonic seizure, Focal tonic seizure, Ataxia, Bil... OMIM:617106
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Bilateral tonic-clonic seizure OMIM:104290
Congenital Disorder Of Glycosylation, Type Iaa
Status epilepticus, Failure to thrive, Bilateral tonic-clonic seizure, Pseudobulbar paralysis OMIM:617082
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines OMIM:301076
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Focal hemifacial clonic seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:608105
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Slender build, Chorea, Myoclonus, Rec... OMIM:617600
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, L... ORPHA:240094
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst ORPHA:454840
Cerebellar Atrophy, Developmental Delay, And Seizures
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Self-injurious behavior, Convulsive status epilepticus, Inability to walk, Stereotypical hand wri... OMIM:618760
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
X-Linked Intellectual Disability, Shashi Type
Obesity, Macroorchidism, Seizure ORPHA:85286
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Seizure, Infantile spasms, Aggressive behavior, Hyperactivity OMIM:619031
Pitt-Hopkins-Like Syndrome 1
Focal impaired awareness seizure, Status epilepticus, Generalized-onset seizure, Reduced social r... OMIM:610042
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Failure to thrive, Seizure, Generalized-onset seizure, Self-mutilation, Aggressive behavior, Hype... OMIM:604317
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Generalized myoclonic seizure, Typical absence seizure, Lateral ventricl... ORPHA:208447
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... OMIM:613670
Donohue Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic ... OMIM:246200
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hyperinsul... ORPHA:528
Obesity Due To Sim1 Deficiency
Memory impairment, Obesity, Polyphagia, Attention deficit hyperactivity disorder, Cognitive impai... ORPHA:369873
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Myoclonus, Dysmetria, Spastic ataxia, Cognitive impairment, Bilateral tonic-c... OMIM:614487
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Emotional lability, Cryptorchidism OMIM:309585
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Bilateral tonic-clonic seizure, Ataxia OMIM:618425
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Generalized non-motor (absence) seizure, Obesity, Stereotypical hand wringing, Bilateral... OMIM:619854
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries OMIM:616831
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Kohlschutter-Tonz Syndrome
Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Ataxia, Dementia, Focal-onset seizure OMIM:226750
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity, EEG with centrotemporal focal spike waves, Seizure ORPHA:217377
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Chorea, Generalized non-motor (absence) seizure, Bilateral tonic-cloni... ORPHA:79137
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly,... ORPHA:250972
Cowden Syndrome 5
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... OMIM:615108
Sarcosinemia
Emotional lability, Bilateral tonic-clonic seizure, Ataxia ORPHA:3129
Morm Syndrome
Aggressive behavior, Retinal atrophy, Hyperactivity, Micropenis, Retinal dystrophy ORPHA:75858
Ovarian Cancer
Ovarian papillary adenocarcinoma, Dysgerminoma OMIM:167000
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Myoclonic seizure, Myoclonus, Irritability, Tonic seizure, Bilateral tonic-clonic seizure, Clonic... OMIM:617290
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Unilateral Focal Polymicrogyria
Mental deterioration, Memory impairment, Seizure, Bilateral tonic-clonic seizure with focal onset... ORPHA:268947
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Cowden Syndrome 6
Varicocele, Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele tes... OMIM:615109
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:613608
Spinocerebellar Ataxia, Autosomal Recessive 12
Limb ataxia, Gait ataxia, Bilateral tonic-clonic seizure, Ataxia OMIM:614322
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Malignant Migrating Focal Seizures Of Infancy
Myoclonic seizure, Focal impaired awareness seizure, Failure to thrive, Epileptic spasm, Focal he... ORPHA:293181
Developmental And Epileptic Encephalopathy 34
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal hemiclonic s... OMIM:616645
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Aggres... OMIM:612736
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:611364
Childhood Absence Epilepsy
Myoclonic absence seizure, Depression, Typical absence seizure, Limb myoclonus, Febrile seizure (... ORPHA:64280
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni... OMIM:607745
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Mental deterioration, Somatic sensory dysfunction, Pseudobulbar paralysis, Emotional lability, Ir... ORPHA:199354
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Focal sensory seizure with somatosensory features, Memory impairmen... ORPHA:1929
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Developmental And Epileptic Encephalopathy 37
Chorea, Myoclonus, Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Multifocal seizures,... OMIM:616981
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Seizure, Obesity, Polyphagia, Motor stereotypy OMIM:613886
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... ORPHA:785
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Myoclonus, Bilateral tonic-clonic seizure, Ataxia OMIM:619065
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy, Clonic seizure, Seizure OMIM:615282
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Bilateral tonic-clonic seizure, Irritability OMIM:618237
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Seizure, Obesity, Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis ORPHA:3055
Dystonia 22, Juvenile-Onset
Bilateral tonic-clonic seizure, Mental deterioration, Dysdiadochokinesis, Dysmetria OMIM:620453
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Dysmenorrhea, Polycystic ovaries, Oligomenorrhea, Maternal d... ORPHA:79083
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Lujan-Fryns Syndrome
Attention deficit hyperactivity disorder, Macroorchidism ORPHA:776
Juvenile Huntington Disease
Broad-based gait, Depression, Gait ataxia, Irritability, Weight loss, Hyperactivity, Ataxia, Deme... ORPHA:248111
Chromosome 22Q13 Duplication Syndrome
Short attention span, Emotional lability, Polyphagia, Attention deficit hyperactivity disorder, B... OMIM:615538
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Myoclonus, Attention deficit hyperactivity disorder, Motor tics, Nocturnal seizur... OMIM:619725
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Seizure, Inability to walk, Bruxism, Tremor, Motor stereotypy, Hyperacti... OMIM:618718
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Complex febrile seizure, Seizure precipitate... ORPHA:363549
Developmental And Epileptic Encephalopathy 108
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... OMIM:620115
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity, External genital hypoplasia, Cognitive impairment, Micropenis OMIM:615983
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Mental deterioration, Myoclonic seizure, Typical absence seizure, Seizure, Dementia, Myoc... ORPHA:168491
Epilepsy, Familial Temporal Lobe, 6
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... OMIM:615697
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Focal-... ORPHA:289266
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity OMIM:300310
Familial Partial Lipodystrophy, Dunnigan Type
Dysmenorrhea, Secondary amenorrhea, Diabetes mellitus, Polycystic ovaries ORPHA:2348
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Glycosylphosphatidylinositol Biosynthesis Defect 17
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Overfriendliness, Dysplas... OMIM:618010
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Obesity, Inappropriate laughter, Short attention span, Polyphagia, Hyperactivit... ORPHA:411515
Seizures, Benign Familial Infantile, 2
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:605751
Intellectual Developmental Disorder, X-Linked 108
Difficulty walking, Attention deficit hyperactivity disorder, Overweight, Broad-based gait OMIM:301024
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Neurodevelopmental Disorder With Involuntary Movements
Self-injurious behavior, Chorea, Infantile spasms, Bilateral tonic-clonic seizure, Athetosis, Dys... OMIM:617493
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... ORPHA:247768
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Goiter, Ovarian carcinoma, Ovarian cyst, Hypothyroidism, Hyperthyroi... OMIM:158350
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Emotional lability, Disinhibition, Frontotemporal dementia, Dysphagia, Motor stereotypy OMIM:612069
Hernández-Aguirre Negrete Syndrome
Obesity, EEG abnormality, Seizure ORPHA:2139
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Aggressive behavior, Obesity, Hyperactivity, Ataxia OMIM:620270
Infantile Cerebellar-Retinal Degeneration
Failure to thrive, Decreased body weight, Bilateral tonic-clonic seizure, Ataxia, Athetosis, Foca... OMIM:614559
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Prostate cancer, Papillary thyroid carcinoma, Goiter OMIM:616534
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Focal impaired awareness seizure, Seizure, Febrile seizure (within the age range of 3 months to 6... OMIM:620292
Coenzyme Q10 Deficiency, Primary, 9
Oppositional defiant disorder, Myoclonus, Dysmetria, Short attention span, Bilateral tonic-clonic... OMIM:619028
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Attention deficit hyperactivity disorder, Obesity OMIM:618725
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... OMIM:619606
Intellectual Developmental Disorder, Autosomal Recessive 46
Self-injurious behavior, Seizure, Large for gestational age, Aggressive behavior, Ataxia, Agitation OMIM:616116
Congenital Disorder Of Glycosylation, Type Iiy
Status epilepticus, Bilateral tonic-clonic seizure, Agenesis of corpus callosum OMIM:620200
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Seizure, Cognitive impairment, Exaggerate... ORPHA:309246
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Cystic Echinococcosis
Abnormality of the testis size, Hepatic cysts, Ovarian cyst, Renal cyst, Eosinophilia ORPHA:400
Developmental And Epileptic Encephalopathy 103
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Tonic seizur... OMIM:619913
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Mehmo Syndrome
Seizure, External genital hypoplasia, Obesity, Cryptorchidism, EEG abnormality, Micropenis, Hypop... ORPHA:85282
Perry Syndrome
Short stepped shuffling gait, Depression, Inappropriate behavior, Akinesia, Tremor, Frontotempora... OMIM:168605
Hereditary Breast And/Or Ovarian Cancer Syndrome
Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer, Neoplasm of the pancreas ORPHA:145
Glycine Encephalopathy 1
Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Mental deterioration, Abnormal temper tantrums, EEG with generalized epilepti... ORPHA:163681
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Depression, Focal hyperkinetic seizure, Paroxysmal dystonia, Attention deficit hyperactivity diso... ORPHA:98784
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis ORPHA:85274
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Focal impaired awareness seizure, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, S... ORPHA:330050
Severe Canavan Disease
Bilateral tonic-clonic seizure, Irritability, Seizure, Oral-pharyngeal dysphagia ORPHA:314911
Peutz-Jeghers Syndrome
Uterine neoplasm, Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor OMIM:175200
Developmental And Epileptic Encephalopathy 47
Limb ataxia, Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status e... OMIM:617166
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Paresthesia, Choreoathetosis, Bilateral tonic-clonic seizure, Episodic ataxia ORPHA:53583
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atypi... OMIM:617711
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity, Seizure OMIM:615987
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Intellectual Developmental Disorder, Autosomal Recessive 38
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Recurrent hand flapping, ... OMIM:615516
Clark-Baraitser syndrome
Tall stature, Obesity, Macroorchidism, Seizure OMIM:300602
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Myoclonic seizure, Focal impaired awareness seizure, Epileptic spasm, Gait ataxia, Emotional labi... OMIM:619580
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Intellectual Developmental Disorder, X-Linked 30
Seizure, Generalized non-motor (absence) seizure, Short attention span, Aggressive behavior, Hype... OMIM:300558
Developmental And Epileptic Encephalopathy 63
Myoclonic seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Generalized tonic seizure... OMIM:617976
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Myoclonus, Bilateral tonic-clonic seizure, Dementia, Psychomotor deterioration OMIM:204200
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Cognitive impairment, Progressive cerebellar ataxia ORPHA:98773
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy, Seizure OMIM:618906
Systemic Primary Carnitine Deficiency
Confusion, Bilateral tonic-clonic seizure with focal onset ORPHA:158
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Developmental And Epileptic Encephalopathy 41
Myoclonic seizure, Epileptic spasm, Irritability, Status epilepticus without prominent motor symp... OMIM:617105
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Seizure OMIM:612621
11P15.4 Microduplication Syndrome
Aggressive behavior, Obesity, Seizure ORPHA:300305
Mccune-Albright Syndrome
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... ORPHA:562
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Clonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:620461
8p23.1 deletion syndrome
Hyperactivity, Cryptorchidism DECIPHER:39
Lafora Disease
Mental deterioration, Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic sei... ORPHA:501
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, Generalized non-motor (absence) seizure, Gait ataxia, Dysmetria, Bilateral ton... OMIM:617810
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Seizure ORPHA:436141
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Myoclonic seizure, Oculogyric crisis, Seizure, Inability to walk, Bruxis... OMIM:614254
Corticobasal Syndrome
Memory impairment, Akinesia, Limb dystonia, Tremor, Gait disturbance, Dementia, Dystonia ORPHA:454887
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Large for gestational age, Truncal obesity ORPHA:293964
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Mental deterioration, Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Myoclonus... ORPHA:2590
Mitochondrial Complex I Deficiency, Nuclear Type 13
Focal motor seizure, Failure to thrive, Bilateral tonic-clonic seizure, Irritability OMIM:618235
Spinocerebellar Ataxia With Epilepsy
Depression, Dysdiadochokinesis, Gait ataxia, Myoclonus, Dysmetria, Progressive neurologic deterio... ORPHA:254881
Lopes-Maciel-Rodan Syndrome
Seizure, Bruxism, Tremor, Dysphagia, Unsteady gait, Dystonia, Motor stereotypy, Focal impaired aw... OMIM:617435
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines OMIM:608049
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia OMIM:617836
Developmental And Epileptic Encephalopathy 66
Myoclonic seizure, Seizure, Focal clonic seizure, Focal-onset seizure, Generalized tonic seizure,... OMIM:618067
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Aggressive behavior, Reduced social reciprocity OMIM:616083
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Spinocerebellar Ataxia 21
Mental deterioration, Postural tremor, Limb ataxia, Gait ataxia, Akinesia, Cognitive impairment, ... OMIM:607454
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal... OMIM:615859
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with ... OMIM:601764
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Seizure, Dementia, Emotional lability, Motor stereotypy, Cognitive impairment, Bilate... ORPHA:79264
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Type I diabetes mellitus, Premature thelarche, Polycystic ovaries ORPHA:371428
Alpers-Huttenlocher Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Choreoathetosis ORPHA:726
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Atypical Rett Syndrome
Restrictive behavior, Neonatal seizure, Limb myoclonus, Seizure, Pill-rolling tremor, Inability t... ORPHA:3095
Infantile Systemic Hyalinosis
Abnormality of the adrenal glands, Aplasia/Hypoplasia of the thymus, Polycystic ovaries ORPHA:2176
Aminoacylase 1 Deficiency
Bilateral tonic-clonic seizure, Hyperactivity, Seizure OMIM:609924
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Focal impaired awareness seizure, Seizure, Chorea, Bilateral tonic-clonic seizure, Status epilept... OMIM:613970
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Generalized non-motor (absence) seizure, Generalized-onset seizure, Bila... OMIM:615637
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Bilateral tonic-clonic seizure, Abnormal lateral ventricle morphology, Gait ataxia, Seizure ORPHA:488635
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... ORPHA:91
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Emotional lability, Low frustration tolerance, Aggressive behavior, Hyperactivity, Compulsive beh... OMIM:309520
Short Syndrome
Ovarian cyst, Insulin-resistant diabetes mellitus OMIM:269880
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Depression, Seizure ORPHA:276630
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hydrocele testis ORPHA:276280
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Bilateral tonic-clonic seizure ORPHA:100988
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus, Polycystic ovaries ORPHA:79086
Autism, Susceptibility To, X-Linked 6
Obesity, Seizure OMIM:300872
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Tremor, Hyperactivity, Ataxia, Dystonia OMIM:615924
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Azoospermia, Gonadotropin deficiency, Hypogonadotro... ORPHA:52901
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Seizure, Self-mutilation, Bilateral tonic-clonic seizure, Overweight, Motor stereotypy ORPHA:457240
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:614858
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Tremor, Aggressive behavior, Hyperactivity, Ataxia OMIM:300983
Intellectual Developmental Disorder, Autosomal Dominant 74
Diminished ability to concentrate, Motor tics, Typical absence seizure, Bilateral tonic-clonic se... OMIM:620688
Parkinson Disease 17
Akinesia, Resting tremor, Tremor OMIM:614203
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Aggressive behavior, Obesity, Hyperactivity OMIM:301013
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Epilepsy, Familial Adult Myoclonic, 2
Myoclonus, Cognitive impairment, Bilateral tonic-clonic seizure, Ataxia, Dementia OMIM:607876
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure, Ataxia, Dysphagia, Gene... ORPHA:313772
11Q22.2Q22.3 Microdeletion Syndrome
Seizure, Obesity, Short attention span, Attention deficit hyperactivity disorder, Compulsive beha... ORPHA:444002
Adiposis Dolorosa
Obesity, Depression OMIM:103200
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Phenylketonuria
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... OMIM:261600
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:618856
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Gait ataxia, Dysmetria OMIM:203740
Developmental And Epileptic Encephalopathy 8
Tonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Exaggerated star... OMIM:300607
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age OMIM:256450
Hereditary Central Diabetes Insipidus
Lethargy, Polydipsia ORPHA:30925
Shukla-Vernon Syndrome
Broad-based gait, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, Motor s... OMIM:301029
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity, Polyphagia OMIM:618406
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bilateral ... OMIM:619616
Leptin Receptor Deficiency
Obesity, Abnormal eating behavior, Emotional lability, Abnormal hypothalamus morphology, Aggressi... OMIM:614963
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Gait ataxia, Aggressive behavior, Hyperactivity, Motor stereotypy, Small for g... OMIM:609425
Hyperekplexia-Epilepsy Syndrome
Generalized tonic seizure, Focal impaired awareness seizure, Exaggerated startle response ORPHA:163985
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Intellectual Developmental Disorder, Autosomal Dominant 39
Generalized non-motor (absence) seizure, Obesity, Self-mutilation, Polyphagia, Aggressive behavio... OMIM:616521
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Myoclonus, Gait ataxia, Tremor, Bilateral tonic-clonic seizure with generalize... OMIM:619092
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Tonic seizure, Focal emotional seizure with laughing, Bilateral to... OMIM:619881
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Seizure, Difficulty walking, Inability to walk, Limb a... OMIM:617695
Early-Onset Autosomal Dominant Alzheimer Disease
Memory impairment, Seizure, Confusion, Myoclonus, Disinhibition, Ataxia, Dementia, Semantic demen... ORPHA:1020
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Oligomenorrhea, Dysmenorrhea, Polycystic ovaries ORPHA:79240
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Focal impaired awareness seizure, Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-cloni... OMIM:619428
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... OMIM:619338
Peho-Like Syndrome
Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure OMIM:617507
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618470
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Labial pseudohypertrophy, Hyperinsulinemia, Type II diabetes... OMIM:151660
Baker-Gordon Syndrome
Self-injurious behavior, Inability to walk, Ataxia, Dystonia, Motor stereotypy, Choreoathetosis OMIM:618218
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Cervix cancer, Multiple renal cysts ORPHA:2869
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Myoclonic seizure, Lateral ventricle dilatation, Seizure, Bruxism, Bilateral tonic-clonic seizure OMIM:615716
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Myoclonic seizure, Motor stereotypy OMIM:619690
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Ovarian cyst OMIM:618188
Narcolepsy Type 1
Transient global amnesia, Depression, Obesity, Restless legs, Attention deficit hyperactivity dis... ORPHA:2073
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure, Irritability ORPHA:457205
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure with generalized ons... ORPHA:352582
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Dysmenorrhea, Polycystic ovaries, Oligomenorrhea, Delayed puberty ORPHA:264580
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Resting tremor, Inability to walk, Akinesia, Gait a... ORPHA:391411
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Obesity, Polyphagia, Micropenis OMIM:614962
Obesity And Hypopigmentation
Overgrowth, Obesity, Polyphagia OMIM:620195
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure, Gait ataxia, Dysmetria OMIM:615031
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Focal myoclonic seizure, Seizure, Obesity, Bilateral tonic-clonic seizure, Ataxia, Generalized my... ORPHA:464282
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c... ORPHA:249
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Seizure, Failure to thrive, Generalized non-motor (absence) seizure OMIM:616281
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Hypogonadism, Decreased testicular size, Cryptorchidism, Truncal obesity ORPHA:261483
Developmental And Epileptic Encephalopathy 93
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Infantile spasm... OMIM:618012
Neurodegeneration With Brain Iron Accumulation 5
Mental deterioration, Akinesia, Tremor, Dementia, Dystonia OMIM:300894
Ataxia-Oculomotor Apraxia Type 4
Obesity, Short attention span, Cognitive impairment, Ataxia ORPHA:459033
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... ORPHA:2298
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Small for gestational age, Bilateral tonic-clonic seizure OMIM:619278
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Intellectual Developmental Disorder, X-Linked 98
Failure to thrive, Generalized non-motor (absence) seizure, Atonic seizure, Bulimia, Bruxism, Ste... OMIM:300912
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal OMIM:614279
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Tonic seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:620028
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Freezing of gait, Dystonia OMIM:619911
Hsd10 Disease
Short attention span, Tremor, Gait disturbance, Ataxia, Abnormal social behavior, Choreoathetosis ORPHA:391417
Sulfite Oxidase Deficiency, Isolated
Agitation, Choreoathetosis, Bilateral tonic-clonic seizure, Ataxia OMIM:272300
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Memory impairment, Dysdiadochokinesis, Resting tremor, Akinesia, Gait ataxia, Ata... ORPHA:247234
Intellectual Developmental Disorder With Autism And Macrocephaly
Seizure, Tall stature, Recurrent hand flapping, Pica, Overweight OMIM:615032
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Progressive neurologic deterioration, Agitation, Seizure ORPHA:276608
Developmental And Epileptic Encephalopathy 28
Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epileptic spasm, Generali... OMIM:616211
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity OMIM:300928
14Q11.2 Microduplication Syndrome
Seizure, Obesity, Polyphagia, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Dysmenorrhea, Polycystic ovaries, Diabetes mellitus, Secondary ameno... ORPHA:280365
Stiff Person Spectrum Disorder
Difficulty walking, Falls, Emotional lability, Exaggerated startle response ORPHA:3198
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Decreased testicular size, Cryptorchidism, Reduced social reciprocity, Attenti... ORPHA:163976
Xq28 (MECP2) duplication
Depression, Seizure, Inability to walk, Gait ataxia, Dysphagia, Motor stereotypy DECIPHER:45
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Mental deterioration, Falls, Akinesia, Gait imbalance, Axial dystonia, Tremor, Soc... ORPHA:240071
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Isolated Thyroid-Stimulating Hormone Deficiency
Depression, Increased circulating prolactin concentration, Goiter, Attention deficit hyperactivit... ORPHA:90674
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Seizure, Short attention span, Aggressive behavior, Attention deficit hyperactivity d... OMIM:620242
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of the prostate, Seizure, Obesity, Cryptorchidism, EEG abnormality, Micropenis OMIM:301900
X-Linked Intellectual Disability, Hedera Type
Bilateral tonic-clonic seizure, Obesity, Dysmetria, Atonic seizure ORPHA:93952
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Polycystic ovaries, Decreased fertili... OMIM:608594
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Generalized tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, G... OMIM:612164
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Generalized non-motor (absence) seizure, Seizure, Dysmetria, Bilateral tonic-clonic seizure, Atax... OMIM:618170
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the... OMIM:614527
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Houge-Janssens Syndrome 3
Self-injurious behavior, Generalized non-motor (absence) seizure, Focal-onset seizure, Attention ... OMIM:618354
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Action tremor, Tremor, Reduced social reciprocity, Ataxia, Dystonia OMIM:619738
Severe Intellectual Disability And Progressive Spastic Paraplegia
Seizure, Difficulty walking, Dystonia, Motor stereotypy, Waddling gait ORPHA:280763
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Seizure, Decreased testicular size, Obesity, Cryptorchidism, Hypogonadotropic hypogonadism, Micro... OMIM:610628
Intellectual Developmental Disorder, Autosomal Dominant 7
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Inappropriate laughter, S... OMIM:614104
Myoclonic-Astatic Epilepsy
Ataxia, Generalized non-motor (absence) seizure, Abnormal emotion, Focal-onset seizure, Reduced s... ORPHA:1942
Non-Functioning Pituitary Adenoma
Secondary growth hormone deficiency, Male hypogonadism, Hypopituitarism, Decreased response to gr... ORPHA:91349
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Decreased fertility, Type II diabetes... OMIM:269700
Parkinson Disease 23, Autosomal Recessive Early-Onset
Mental deterioration, Resting tremor, Akinesia, Limb dystonia, Dementia OMIM:616840
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Myoclonus, Emotional lability, Irritability, Ton... OMIM:608643
Congenital Insensitivity To Pain With Severe Intellectual Disability
Pain insensitivity, Self-mutilation, Impaired tactile sensation, Bilateral tonic-clonic seizure, ... ORPHA:453510
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity ORPHA:71529
Severe Neonatal-Onset Encephalopathy With Microcephaly
Bilateral tonic-clonic seizure, Seizure ORPHA:209370
Polyembryoma
Isosexual precocious puberty, Macroorchidism ORPHA:180229
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Depression, Seizure, Exaggerated startle response OMIM:620114
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Myoclonic seizure, Motor stereotypy, Bilateral tonic-clonic seizure OMIM:619877
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Bruxism, Short attention span, Tremor, Aggressive behavior, Attention deficit hyperactivity disor... OMIM:618342
Trisomy 20P
Cryptorchidism, Gait disturbance, Cognitive impairment, Abnormal autonomic nervous system physiol... ORPHA:261318
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis OMIM:601820
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Inability to walk, Macroorchidism, Steppage gait ORPHA:324410
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Seizure, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:529665
Postencephalitic Parkinsonism
Depression, Oculogyric crisis, Resting tremor, Akinesia, Abnormal aggressive, impulsive or violen... ORPHA:97349
Central Diabetes Insipidus
Lethargy, Polydipsia, Anorexia ORPHA:178029
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Inability to walk, Infantile spasms, Myoclonus, Generali... ORPHA:411986
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Seizure, Recurrent hand flapping, ... ORPHA:449291
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Failure to thrive, Seizure, Infantile spasms, Irritability, Bilateral tonic-clonic seizure, Restl... ORPHA:544503
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:620502
Spastic Paraplegia 11, Autosomal Recessive
Mental deterioration, Impaired vibration sensation in the lower limbs, Obesity, Agenesis of corpu... OMIM:604360
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Gonadotropin d... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Gonadotropin d... ORPHA:71526
Alfadhel Syndrome
Bilateral tonic-clonic seizure, Aggressive behavior, Seizure OMIM:620655
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lateral ventricle dilatation, Seizure, Infantile spasms, Agenesis of corpus callosum, Bilateral t... ORPHA:79243
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Attention deficit hyperactivity disorder, Gait disturbance, Impulsivity ORPHA:589905
Autism Spectrum Disorder Due To Auts2 Deficiency
Seizure, Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperactivity,... ORPHA:352490
Oromandibular Dystonia
Blepharospasm, Depression, Generalized dystonia, Laryngeal dystonia, Bruxism, Limb dystonia, Ling... ORPHA:93958
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Chorea, Bilateral tonic-clonic seizure ORPHA:369840
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Seizure, Obsessive-compulsive trait, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:618825
D-2-Hydroxyglutaric Aciduria 1
Myoclonic seizure, Lateral ventricle dilatation, Seizure, Infantile spasms, Tonic seizure, Bilate... OMIM:600721
Christianson Syndrome
Generalized-onset seizure, Inappropriate laughter, Gait ataxia, Dysphagia, Truncal ataxia, Dyston... ORPHA:85278
Hyperekplexia 3
Myoclonus, Bilateral tonic-clonic seizure, Exaggerated startle response OMIM:614618
Ritscher-Schinzel Syndrome 4
Chorea, Agenesis of corpus callosum, Aggressive behavior, Dysphagia, Bilateral tonic-clonic seizu... OMIM:619435
Developmental And Epileptic Encephalopathy 68
Myoclonus, Status epilepticus, Exaggerated startle response OMIM:618201
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Focal myoclonic seizure, Failure to thrive, Seizure, Irritability, Agenesis of corpus callosum, A... ORPHA:481152
Myoclonic Epilepsy Of Lafora 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... OMIM:254780
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Clonic seizure, Status epile... OMIM:610539
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder OMIM:620439
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Confusion, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Focal motor s... OMIM:602481
Lynch Syndrome 4
Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Idiopathic Intracranial Hypertension
Depression, Obesity, Abnormal emotion, Focal sensory seizure with olfactory features ORPHA:238624
New-Onset Refractory Status Epilepticus
Focal aware motor seizure, Focal autonomic seizure, Myoclonic seizure, Focal impaired awareness s... ORPHA:363558
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Cryptorchidism, Polyphagia, Motor stereotypy, Hyperactivity, Ataxia, Hyp... ORPHA:228402
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Attention deficit hyperactivity disorder, Small for gestational age OMIM:274300
Developmental And Epileptic Encephalopathy 90
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:301058
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Seizure, Bilateral tonic-clonic seizure with generalized onset, Tongue thrusting, Bilateral tonic... ORPHA:98795
Orofaciodigital Syndrome I
Pancreatic cysts, Polycystic kidney dysplasia, Hepatic cysts, Ovarian cyst OMIM:311200
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Seizure, Confusion, Emotional lability, Cognitive impairment, Ataxia, Delirium, Motor stereotypy,... ORPHA:927
Kufor-Rakeb Syndrome
Akinesia, Tremor, Gait disturbance, Torticollis, Ataxia, Dementia, Dystonia OMIM:606693
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Seizure, Slender build, Myoclonus, Self-mutilation, Aggressive behavior, Bila... ORPHA:364028
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Memory impairment, Seizure, Generalized-onset seizure, Obesity, Dys... OMIM:619737
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Hereditary Late-Onset Parkinson Disease
Mental deterioration, Shuffling gait, Depression, Resting tremor, Akinesia, Low frustration toler... ORPHA:411602
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Depression, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:619467
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity, Cryptorchidism, External genital hypoplasia OMIM:615982
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:618504
Infantile Neuroaxonal Dystrophy
Mental deterioration, Optic atrophy, Short attention span, Abnormality of peripheral nerve conduc... ORPHA:35069
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis... OMIM:608800
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Micro... ORPHA:325124
Dk1-Cdg
Failure to thrive, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal-onset seizure ORPHA:91131
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal hyperplasia, Male p... ORPHA:90790
Fatty Acid Hydroxylase-Associated Neurodegeneration
Mental deterioration, Depression, Progressive gait ataxia, Bilateral tonic-clonic seizure, Dyspha... ORPHA:329308
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bilateral tonic-clonic seizure, Seizure OMIM:300423
Combined Oxidative Phosphorylation Deficiency 27
Mental deterioration, Failure to thrive, Chorea, Myoclonus, Bilateral tonic-clonic seizure, Statu... OMIM:616672
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Seizure, Inability to walk, Short attention span, Irritability, Exaggerated startle response, Sta... OMIM:617864
Developmental And Epileptic Encephalopathy 61
Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617933
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Dementia, Bilateral tonic-clonic seizure OMIM:540000
Nephronophthisis 15
Obesity, Seizure OMIM:614845
Lissencephaly Due To Tuba1A Mutation
Infantile spasms, Agenesis of corpus callosum, Dysplastic corpus callosum, Bilateral tonic-clonic... ORPHA:171680
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Seizure, Gait ataxia, Tremor, Dysmetria, Exaggerated startle response, Focal ... OMIM:618056
Bilateral Polymicrogyria
Mental deterioration, Seizure, Pseudobulbar paralysis, Generalized-onset seizure, Infantile spasm... ORPHA:268940
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, ... ORPHA:313892
Intellectual Developmental Disorder, Autosomal Recessive 13
Bruxism, Recurrent hand flapping, Hyperactivity, Truncal obesity OMIM:613192
Lissencephaly 9 With Complex Brainstem Malformation
Myoclonic seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Dysphagia, Focal im... OMIM:618325
Aceruloplasminemia
Blepharospasm, Memory impairment, Akinesia, Limb ataxia, Gait ataxia, Tremor, Craniofacial dyston... ORPHA:48818
Histiocytoid Cardiomyopathy
Renal cyst, Polycystic ovaries ORPHA:137675
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Depression, Resting tremor, Limb ataxia, Gait ataxia, Tremor, Reduced social reciprocity, Dysmetr... OMIM:615157
Angelman Syndrome Due To A Point Mutation
Seizure, Obesity, Abnormal eating behavior, Inappropriate laughter, Recurrent hand flapping, Tong... ORPHA:411511
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypogonadism, Decreased testicular size, Gait ataxia, Cryptorchidism, Tremor, Emotional lability,... OMIM:300354
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Rett Syndrome
Seizure, Difficulty walking, Bruxism, Inability to walk, Stereotypical hand wringing, Gait distur... ORPHA:778
Hyperekplexia 1
Myoclonus, Nocturnal seizures, Seizure, Exaggerated startle response OMIM:149400
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Failure to thrive, Generalized non-motor (absence) seizure, Epileptic spasm, Irritability, Bilate... ORPHA:79351
Lynch Syndrome 5
Endometrial carcinoma, Neoplasm of the pancreas, Ovarian neoplasm OMIM:614350
Amish Lethal Microcephaly
Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Irritability ORPHA:99742
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Seizure, Bruxism, Recurrent hand flapping, Gait disturbance, Dystonia, Agitation OMIM:617903
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias OMIM:618874
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Obesity, Abnormal eating behavior, Inappropriate laughter, Recurrent hand flapp... ORPHA:98794
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dysphagia, Impulsivity ORPHA:500180
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Inappropriate laughter, Agen... OMIM:615802
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Seizure, Inability to walk, Bruxism, Paroxysmal dystonia, Dystonia, Moto... OMIM:618004
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Seizure ORPHA:85277
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Supranuclear Palsy, Progressive, 2
Memory impairment, Falls, Frontolimbic dementia, Postural tremor, Gait imbalance, Retrocollis, Ax... OMIM:609454
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se... OMIM:615476
Graves Disease
Polyphagia, Weight loss, Hyperactivity, Irritability OMIM:275000
Tay-Sachs Disease
Dementia, Psychomotor deterioration, Seizure, Exaggerated startle response OMIM:272800
Hyperlysinemia, Type I
Short attention span, Cognitive impairment, Hyperactivity, Dysdiadochokinesis, Optic nerve hypopl... OMIM:238700
Multiple Mitochondrial Dysfunctions Syndrome 7
Myoclonic seizure, Seizure, Infantile spasms, Myoclonus, Agitation, Irritability, Hyperactivity, ... OMIM:620423
Smith-Magenis Syndrome
Pain insensitivity, Head-banging, Impaired pain sensation, Seizure, Onychotillomania, Self-mutila... OMIM:182290
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Tip-toe gait, Bruxism, Agitation, Self-mutilation, Stereotypical hand wringin... OMIM:619950
Sandhoff Disease, Infantile Form
Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated startle response ORPHA:309155
Morgagni-Stewart-Morel Syndrome
Memory impairment, Depression, Seizure, Obesity, Cognitive impairment ORPHA:77296
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight, Bulimia OMIM:614651
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Depression, Generalized non-motor (absence) seizure, Seizure, Inability to walk, Bruxism, Hostili... OMIM:300260
Alternating Hemiplegia Of Childhood
Failure to thrive, Seizure, Oral-pharyngeal dysphagia, Anorexia, Chorea, Emotional lability, Aggr... ORPHA:2131
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Seizure, Stereotypical hand wringing, Skin-picking, Aggressive behavior,... OMIM:600430
Leopard Syndrome 1
Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty,... OMIM:151100
D-Glyceric Aciduria
Failure to thrive, Seizure, Focal clonic seizure, Myoclonus, Tongue thrusting, Bilateral tonic-cl... OMIM:220120
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Mental deterioration, Memory impairment, Lateral ventricle dilatation, Seiz... ORPHA:2822
Adiposis Dolorosa
Depression, Memory impairment, Seizure, Obesity, Paresthesia ORPHA:36397
Tay-Sachs Disease
Mania, Depression, Typical absence seizure, Memory impairment, Seizure, Laryngeal dystonia, Inabi... ORPHA:845
Insulin-Like Growth Factor I Deficiency
Short attention span, Hyperactivity, Decreased body weight OMIM:608747
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Focal myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Athetosis, Focal im... ORPHA:369929
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Head-banging, Bilateral tonic-clonic seizure OMIM:619356
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Irritability, Ataxia, ... OMIM:616881
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Menorrhagia, Polycystic ovaries, Hypothyroidism, Delayed puberty, Thyroid... ORPHA:79259
Supranuclear Palsy, Progressive, 1
Memory impairment, Falls, Frontolimbic dementia, Akinesia, Gait imbalance, Retrocollis, Limb dyst... OMIM:601104
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Hijazi-Reis Syndrome
Gait disturbance, Motor stereotypy, Seizure OMIM:301094
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Mental deterioration, Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Focal-... ORPHA:395
Optic Atrophy 11
Optic atrophy, Cherry red spot of the macula, Stereotypical body rocking, Facial diplegia, Dysmet... OMIM:617302
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Seizure, Hyperactivity, Ataxia, Motor stereotypy ORPHA:530983
Intellectual Developmental Disorder, Autosomal Dominant 42
Phonic tics, Myoclonic seizure, Focal impaired awareness seizure, Failure to thrive, Generalized ... OMIM:616973
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity, Irritability ORPHA:391307
Insulinoma
Transient global amnesia, Seizure, Paresthesia, Increased body weight, Polyphagia, Abnormality of... ORPHA:97279
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Cryptorchidism, Tremor, Cerebellar hyp... OMIM:620327
Bardet-Biedl Syndrome
Irregular menstruation, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreas... ORPHA:110
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Generalized-onset seizure, Difficulty walking, Gait ataxia, Dystonia, Motor ste... OMIM:617807
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Hypospadias ORPHA:141333
Developmental And Epileptic Encephalopathy 49
Myoclonic seizure, Myoclonus, Dysplastic corpus callosum, Tonic seizure, Hyperactivity, Bilateral... OMIM:617281
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Seizure, Recurrent hand flapping, Aggressive behavior, Attention deficit... OMIM:300986
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617468
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... ORPHA:100924
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Optic atrophy, Dysdiadochokinesis, Short attention span, Gait ataxia, Dysme... OMIM:610217
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Motor stereotypy, Bilateral tonic-clonic seizure OMIM:616351
Stiff-Person Syndrome
Opisthotonus, Depression, Myoclonic spasms, Exaggerated startle response OMIM:184850
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Attention deficit hyperactivity disorder, Gait disturbance, H... ORPHA:43
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Polyphagia, Hypoglycemic seizures, Status epilepticus, Agitation ORPHA:276556
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic s... ORPHA:42
Hyperekplexia 2
Myoclonus, Exaggerated startle response OMIM:614619
Early Infantile Epileptic Encephalopathy
Self-injurious behavior, Failure to thrive, Generalized non-motor (absence) seizure, Episodic ata... ORPHA:1934
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Focal impaired awareness seizure, Seizure, Infantile spasms, Generalized tonic seizure, Bilateral... ORPHA:480864
Coffin-Siris Syndrome 6
Tics, Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:617808
Snijders Blok-Campeau Syndrome
Broad-based gait, Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, ... OMIM:618205
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... OMIM:618820
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Seizure, Tall stature, Obesity, Aggressive behavior, Hyperactivity, Ataxia, Compulsive behaviors,... OMIM:618430
Brain-Lung-Thyroid Syndrome
Falls, Abnormal eating behavior, Hypoparathyroidism, Abnormal drinking behavior, Hyperactivity, A... ORPHA:209905
48,Xxyy Syndrome
Depression, Seizure, Tremor, Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy ORPHA:10
Inverted Duplicated Chromosome 15 Syndrome
Seizure, Aggressive behavior, Hyperactivity, Self-biting, Motor stereotypy ORPHA:3306
Prader-Willi Syndrome Due To Imprinting Mutation
External genital hypoplasia, Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:177910
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Nephrogenic diabetes insipidus... OMIM:209900
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Motor stereotypy, Seizure OMIM:613443
Young-Onset Parkinson Disease
Depression, Frontal lobe dementia, Gait imbalance, Short attention span, Reduced social reciproci... ORPHA:2828
5Q14.3 Microdeletion Syndrome
Motor stereotypy, Seizure ORPHA:228384
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Galloway-Mowat Syndrome 6
Paroxysmal bursts of laughter, Motor stereotypy, Seizure OMIM:618347
Rett Syndrome
Seizure, Bruxism, Gait ataxia, Stereotypical hand wringing, Gait apraxia, Motor deterioration, Tr... OMIM:312750
Developmental And Epileptic Encephalopathy 100
Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m... OMIM:619777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Polymicrogyria, Type II lissencephaly, Agyria, Encephalocele, Agenesis of corpus callosum, Cerebe... OMIM:253800
Ochoa Syndrome
Polydipsia, Cryptorchidism ORPHA:2704
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Polyphagia, Hypoglycemic seizures, Status epilepticus, Agitation ORPHA:276575
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Aggressive behavior, Obesity, Short attention span, Seizure OMIM:619056
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Obesity, Eunuchoid habitus, Hypoplasia of... ORPHA:2234
Choreoacanthocytosis
Mental deterioration, Lateral ventricle dilatation, Emotional lability, Hair-pulling, Weight loss... ORPHA:2388
Acth-Independent Macronodular Adrenal Hyperplasia
Mental deterioration, Depression, Emotional lability, Truncal obesity, Agitation OMIM:219080
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Attention deficit hyperactivity disorder, Bilateral toni... ORPHA:435638
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Short attention span, Decreased body weight, Hyperactivity, Dysphagia, Bradyphrenia ORPHA:589821
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased testicular size, External genital hy... ORPHA:99330
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy, Seizure ORPHA:529965
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Micropenis, Decreased testicular size, Hypoplasia of the ovary OMIM:619321
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Polyphagia, Hypoglycemic seizures, Status epilepticus, Agitation ORPHA:276580
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity, Cryptorchidism, External genital hypoplasia ORPHA:363741
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Myoclonic seizure, Atypical absence seizure, Bilateral tonic-clonic se... OMIM:619835
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Mental deterioration, Blepharospasm, Optic atrophy, Pigmentary retinopathy, Depressi... OMIM:234200
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Fastin... ORPHA:769
Wagro Syndrome
Hypoplastic female external genitalia, Decreased testicular size, Low frustration tolerance, Emot... OMIM:612469
Den Hoed-De Boer-Voisin Syndrome
Focal myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Lateral ventricle dila... OMIM:619229
Angelman Syndrome
Self-injurious behavior, Atonic seizure, Seizure, Obesity, Infantile spasms, Inappropriate laught... ORPHA:72
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Failure to thrive, Seizure ORPHA:488613
Intellectual Developmental Disorder, Autosomal Dominant 53
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:617798
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Seizure, Gait ataxia, Low frustration tolerance, Self-mutilation, Hyperactivity, Motor stereotypy OMIM:300486
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity, Hypospadias OMIM:615985
Alazami Syndrome
Seizure, Abnormal eating behavior, Self-mutilation, Stereotypical hand wringing, Motor stereotypy ORPHA:319671
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased testicular size, External genital hy... ORPHA:261534
4Q21 Microdeletion Syndrome
Self-injurious behavior, Tremor, Motor stereotypy, Seizure ORPHA:238750
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Seizure, Obesity, Aggressive behavior, Ataxia, Pica, Status epilepticus OMIM:620191
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Broad-based gait, Increased body mass index OMIM:614450
Intellectual Developmental Disorder, Autosomal Dominant 54
Ataxia, Small for gestational age, Seizure, Bruxism, Irritability, Aggressive behavior, Bilateral... OMIM:617799
Metachromatic Leukodystrophy, Adult Form
Depression, Memory impairment, Progressive psychomotor deterioration, Difficulty walking, Short a... ORPHA:309271
Cowden Syndrome
Abnormal penis morphology, Follicular thyroid carcinoma, Abnormality of the uterus, Goiter, Endom... ORPHA:201
Rett Syndrome, Congenital Variant
Seizure, Bruxism, Irritability, Tongue thrusting, Dystonia, Athetosis, Motor stereotypy OMIM:613454
Nmda Receptor Encephalitis
Mania, Oculogyric crisis, Depression, Memory impairment, Seizure, Generalized-onset seizure, Conf... ORPHA:217253
Potocki-Lupski Syndrome
Seizure, Motor stereotypy, Hyperactivity, Oral-pharyngeal dysphagia OMIM:610883
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Dysmetria, Aggressive behavior, Attention deficit hyperactivity disorder, Scissor gait, Spastic g... OMIM:619121
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Short attention span, Attention deficit hyperactivity disorder, Hyperactivity,... ORPHA:73272
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Large for gestational age, B... OMIM:615398
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Aggressive behavior, Self-injurious behavior, Seizure OMIM:300860
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Myoclonic seizure, Dysphagia, Infantile spasms ORPHA:572013
Developmental And Epileptic Encephalopathy 2
Seizure, Generalized-onset seizure, Inability to walk, Infantile spasms, Myoclonus, Multifocal se... OMIM:300672
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Gm2-Gangliosidosis, Ab Variant
Myoclonic seizure, Seizure, Exaggerated startle response, Dementia, Dystonia OMIM:272750
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Seizure, Inability to walk, Focal-onset seizure, Dysphagia, Motor stereotypy, Status epilepticus OMIM:617802
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Fragile X Tremor/Ataxia Syndrome
Mental deterioration, Memory impairment, Dysdiadochokinesis, Resting tremor, Depression, Postural... OMIM:300623
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Infantile spasms, Hair-pulling, Irritability, Motor stereotypy, Hyperactivity, Bilateral tonic-cl... ORPHA:447997
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure OMIM:618120
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity, External genital hypoplasia OMIM:615981
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Ovarian cyst, Parathyroid agenesis, Hypoplasia of the thy... OMIM:188400
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Short attention span, Emotional lability, Progressive gait... ORPHA:309263
Citrullinemia Type Ii
Decreased body mass index, Memory impairment, Confusion, Abnormal eating behavior, Irritability, ... ORPHA:247585
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Failure to thrive, Seizure OMIM:169400
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Depression, Abdominal obesity OMIM:615954
Ataxia-Oculomotor Apraxia 4
Obesity, Cognitive impairment, Ataxia OMIM:616267
Congenital Myopathy 9A
Akinesia OMIM:618822
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Tonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:619983
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Seizure, Tremor, Aggressive behavior, Attention deficit hyperactivity di... OMIM:617061
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Lateral ventricle dilatation, Seizure, Failure to thrive in infancy, Dysplastic corpus callosum, ... ORPHA:488627
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Bila... ORPHA:457351
Intellectual Developmental Disorder, Autosomal Dominant 52
Seizure, Obsessive-compulsive trait, Irritability, Hyperactivity, Pica, Motor stereotypy OMIM:617796
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Wilson Disease
Depression, Failure to thrive, Difficulty walking, Increased body weight, Aggressive behavior, We... ORPHA:905
Stankiewicz-Isidor Syndrome
Cryptorchidism, Abnormal optic disc morphology, Pineal cyst, Hyperactivity, Shawl scrotum, Microp... OMIM:617516
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Gait ataxia, Emotional lability, Progressive gait ataxia, Dystonia, Abnormal social... ORPHA:309256
Developmental And Epileptic Encephalopathy 95
Seizure, Inappropriate laughter, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus, Mult... OMIM:618143
Jaberi-Elahi Syndrome
Failure to thrive, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Choreoathetosis OMIM:617988
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Seizure, Short attention span, Ataxia, Dystonia, Exaggerated startle response ORPHA:438216
Distal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Seizure ORPHA:261222
Pilarowski-Bjornsson Syndrome
Motor stereotypy, Seizure OMIM:617682
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy, Seizure ORPHA:397612
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Seizure, Obesity, Reduced social reciprocity, Attention deficit hyperactivity ... ORPHA:261197
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Seizure, Large for gestational age, Increased body weight, Progressive neurologic deterioration, ... ORPHA:263455
Melas
Depression, Memory impairment, Failure to thrive, Seizure, Myoclonus, Short attention span, Agene... ORPHA:550
Nephronophthisis 9
Polydipsia OMIM:613824
Sandhoff Disease
Myoclonic seizure, Progressive psychomotor deterioration, Impaired temperature sensation, Bilater... OMIM:268800
Radio-Tartaglia Syndrome
Seizure, Gait imbalance, Tremor, Aggressive behavior, Attention deficit hyperactivity disorder, D... OMIM:619312
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Obesity, Cryptorchidism OMIM:601794
Pseudopseudohypoparathyroidism
Obesity, Cognitive impairment OMIM:612463
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Self-injurious behavior, Typical absence seizure, Obesity, Aggressive behavior, Attention deficit... ORPHA:466950
22Q11.2 Duplication Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Seizure ORPHA:1727
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, Gait di... OMIM:300352
Cri-Du-Chat Syndrome
Difficulty walking, Oppositional defiant disorder, Short attention span, Self-mutilation, Overfri... OMIM:123450
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, Cryptorchidism, Increased body weight, Polyphagia, Cognitive impairment, Precociou... ORPHA:398069
48,Xxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Irritability... ORPHA:96263
East Syndrome
Polydipsia, Difficulty walking, Inability to walk, Salt craving, Ataxia ORPHA:199343
Sim1-Related Prader-Willi-Like Syndrome
Precocious puberty, Abnormal temper tantrums, Small scrotum, Small pituitary gland, Failure to th... ORPHA:398079
Chromosome 15Q11.2 Deletion Syndrome
Memory impairment, Seizure, Diminished ability to concentrate, Attention deficit hyperactivity di... OMIM:615656
Kleefstra Syndrome Due To 9Q34 Microdeletion
Depression, Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Epileptic spasm,... ORPHA:96147
X-Linked Cerebral Adrenoleukodystrophy
Mental deterioration, Memory impairment, Difficulty walking, Confusion, Inability to walk, Short ... ORPHA:139396
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:618381
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure OMIM:271900
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Laurence-Moon Syndrome
Micropenis, Small scrotum, Obesity OMIM:245800
Developmental And Epileptic Encephalopathy 111
Convulsive status epilepticus, Infantile spasms, Bilateral tonic-clonic seizure, Multifocal seizu... OMIM:620504
Glass Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Frequent temper tantrums,... OMIM:612313
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Infantile spasms, Hair-pulling, Aggressive behavior, Generalize... OMIM:616393
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Hyperactivity, Seizure OMIM:617751
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Angelman Syndrome
Seizure, Obesity, Progressive gait ataxia, Hyperactivity, Ataxia, Paroxysmal bursts of laughter OMIM:105830
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Depression, Emotional lability OMIM:615830
Mitochondrial Complex I Deficiency, Nuclear Type 28
Truncal ataxia, Akinesia, Choreoathetosis OMIM:618249
Blepharophimosis-Impaired Intellectual Development Syndrome
Seizure, Low frustration tolerance, Overfriendliness, Attention deficit hyperactivity disorder, M... OMIM:619293
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Seizure, Progressive psychomotor deterioration, Obesity, Myoclonus, Polyphagia ORPHA:251004
Bardet-Biedl Syndrome 9
Polyphagia, Obesity, Polydipsia, Truncal obesity OMIM:615986
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... ORPHA:466943
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Seizure, Chorea, Infantile spasms, Gait ataxia, Bilateral tonic-clonic seizure... ORPHA:255210
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Seizure, Gait ataxia, Self-mutilation, Tremor, Aggressive behavior, Attention deficit hyperactivi... ORPHA:476126
Leprechaunism
Clitoral hypertrophy, Long penis, Central hypothyroidism, Overgrowth of external genitalia, Hyper... ORPHA:508
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Small scrotum, Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized-onset seizu... OMIM:614231
Alg9-Cdg
Hypoplastic nipples, Bicornuate uterus, Hepatic cysts, Hypoplasia of the ovary ORPHA:79328
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Dysphag... ORPHA:496641
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Seizure, Irritability, Tonic seizure, Exaggerated startle response, Atonic seizure, Dysphagia, Fo... OMIM:618367
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Obesity OMIM:617885
Opitz Gbbb Syndrome
Thyroglossal cyst, Bifid scrotum, Cryptorchidism, Enlarged ovaries, Shawl scrotum, Bicornuate ute... ORPHA:2745
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Seizure, Frequent temper tantrums, Attention deficit hyperactivity disorder, Motor ... OMIM:619103
Familial Cold Urticaria
Polydipsia ORPHA:47045
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Obesity, Decreased growth hormone response... OMIM:609734
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Diminishment of social interactions, Myoclonic seizure, Head-banging, Failure to thrive, Generali... OMIM:620455
Niemann-Pick Disease, Type C2
Seizure, Dysphagia, Ataxia, Dementia, Dystonia, Motor stereotypy OMIM:607625
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Marbach-Schaaf Neurodevelopmental Syndrome
Seizure, Obesity, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperactivity d... OMIM:619680
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Abnormal temper tantrums, Failure to thrive, Obsessive-compulsive trait, Skin-picking, Attention ... ORPHA:500055
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Pain insensitivity, Generalized non-motor (absence) seizure, Seizure, Infantile spasms, Bilateral... OMIM:620224
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Reduced circulating prolactin concentration OMIM:300888
Coffin-Siris Syndrome 7
Compulsive behaviors, Severe temper tantrums, Motor stereotypy, Hyperactivity OMIM:618027
Molybdenum Cofactor Deficiency, Type B
Bilateral tonic-clonic seizure, Seizure, Myoclonic spasms, Irritability OMIM:252160
Molybdenum Cofactor Deficiency, Type C
Generalized-onset seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:615501
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Motor stereotypy, Seizure, Compulsive behaviors OMIM:613174
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Seizure, Epileptic spasm, Generalized tonic seizure, Bilateral tonic-clonic seizure, Ataxia OMIM:617193
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:620070
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure, Febrile seizure (within the ... OMIM:620073
Familial Hyperaldosteronism Type I
Polydipsia, Adrenal hyperplasia ORPHA:403
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Myoclonic seizure, Failure to thrive, Frequent temper tantrums, Agenesis... OMIM:619512
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:301091
Macrocephaly/Autism Syndrome
Obesity, Large for gestational age, Short attention span, Penile freckling, Overgrowth, Hydrocele... OMIM:605309
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... OMIM:614207
1P21.3 Microdeletion Syndrome
Self-injurious behavior, Obesity, Abnormal eating behavior, Self-mutilation, Aggressive behavior,... ORPHA:293948
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Bulimia, Obsessive-compulsive trait, Cryptorchidism, Polyphagia, Anterior pituitar... ORPHA:98793
Combined Oxidative Phosphorylation Deficiency 15
Seizure, Obesity, Cognitive impairment, Ataxia, Progressive neurologic deterioration, Bilateral t... OMIM:614947
Combined Oxidative Phosphorylation Deficiency 58
Ataxia, Epilepsia partialis continua, Difficulty walking, Myoclonus, Gait ataxia, Bilateral tonic... OMIM:620451
Bardet-Biedl Syndrome 6
External genital hypoplasia, Obesity, Hypospadias, Vaginal atresia OMIM:605231
Biotinidase Deficiency
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Ataxia, Focal motor seizure, Generaliz... ORPHA:79241
Weaver Syndrome
Lateral ventricle dilatation, Seizure, Generalized non-motor (absence) seizure, Overgrowth, Polyp... OMIM:277590
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Bulimia, Obsessive-compulsive trait, Cryptorchidism, Polyphagia, Anterior pituitar... ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Self-injurious behavior, Abnormal temper tantrums, Small scrotum, Precocious puberty, Failure to ... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Bulimia, Obsessive-compulsive trait, Cryptorchidism, Polyphagia, Anterior pituitar... ORPHA:177901
Pituitary Dermoid And Epidermoid Cysts
Polydipsia, Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hype... ORPHA:91351
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Teratoma, Pineal
Polydipsia OMIM:273120
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Impulsivity OMIM:618914
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Myoclonic seizure, Athetosis, Bilateral tonic-clonic seizure OMIM:615474
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Seizure, Inability to walk, Short attention span, Emotional lability, Spastic ataxia, Torticollis... ORPHA:300570
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Seizure, Low frustration tolerance, Aggressive behavior, Ataxia, Unstea... ORPHA:457279
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Head-banging, Failure to thrive, Seizure, Lateral ventricle dilatation, ... OMIM:619575
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Obesity, Emotional lability, Abdominal obesity OMIM:219090
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 mon... ORPHA:3044
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Seizure, Tremor, Aggressive behavior, Attention deficit hyperactivity di... OMIM:620494
White-Sutton Syndrome
Self-injurious behavior, Overfriendliness, Irritability, Aggressive behavior, Hyperactivity, Hypo... OMIM:616364
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Depression, Memory impairment, Emotional lability, Increased body weight, Cognitive impairment, A... ORPHA:189427
Japanese Encephalitis
Myoclonus, Cognitive impairment, Bilateral tonic-clonic seizure, Anorexia, Focal motor seizure, S... ORPHA:79139
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy, Seizure ORPHA:500159
Cystinosis
Polydipsia, Gait disturbance, Motor stereotypy ORPHA:213
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Agenesis of corpus callosum ORPHA:238769
Sotos Syndrome
Seizure, Tall stature, Increased body weight, Overgrowth, Attention deficit hyperactivity disorde... OMIM:117550
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... ORPHA:488618
Gaucher Disease, Perinatal Lethal
Progressive neurologic deterioration, Opisthotonus, Akinesia OMIM:608013
Proteus Syndrome
Retinal nonattachment, Long penis, Thymus hyperplasia, Chorioretinal coloboma, Abnormality of ret... ORPHA:744
Smith-Magenis Syndrome
Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, Gait disturbance, Mot... ORPHA:819
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Adrenal hyperplasia OMIM:613677
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Severe failure to thrive, Bilateral tonic-clonic seizure ORPHA:423479
Limb-Mammary Syndrome
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... ORPHA:69085
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Seizure, Generalized-onset seizure, Cognitive impairment, Exaggerated startle response, Dysphagia OMIM:617527
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Slender build, Large for gestational age, Gait ataxia, Reduced social reciprocity, Overgrowth, Bi... ORPHA:457359
Legius Syndrome
Male urethral meatus stenosis, Short attention span, Vestibular schwannoma, Attention deficit hyp... ORPHA:137605
Congenital Myopathy 12
Akinesia OMIM:612540
Hyperphosphatasia-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Ataxia ORPHA:247262
Williams Syndrome
Precocious puberty, Cholelithiasis, Type II diabetes mellitus, Cryptorchidism, Polycystic ovaries... ORPHA:904
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Webb-Dattani Syndrome
Obesity, Bilateral tonic-clonic seizure OMIM:615926
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Dysphagia, Exaggerated startle response OMIM:617301
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Emotional lability, Cognitive impairment, Torticollis, Ataxia, Tics, Motor ster... OMIM:619475
Mitochondrial Trifunctional Protein Deficiency 2
Bilateral tonic-clonic seizure, Seizure OMIM:620300
Bardet-Biedl Syndrome 17
Hypogonadism, Micropenis, Polydipsia OMIM:615994
Kinsship Syndrome
Failure to thrive, Generalized non-motor (absence) seizure, Bruxism, Myoclonus, Bilateral tonic-c... OMIM:619297
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Polydipsia, Cryptorchidism, Anterior pituitary hypoplasia ORPHA:3157
Warburg Micro Syndrome 3
Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:614222
Familial Hyperaldosteronism Type Iii
Polydipsia, Adrenal hyperplasia ORPHA:251274
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy, Seizure ORPHA:261144
Cocaine Intoxication
Seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Delirium, Atypical absence status e... ORPHA:90068
2Q37 Microdeletion Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Seizure ORPHA:1001
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
Neuromuscular Oculoauditory Syndrome
Infantile spasms, Bilateral tonic-clonic seizure, Agenesis of corpus callosum OMIM:618733
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Pain insensitivity, Self-injurious behavior, Myoclonic seizure, Fixated interests, Generalized no... OMIM:620330
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Lujo Hemorrhagic Fever
Mental deterioration, Seizure, Confusion, Bilateral tonic-clonic seizure, Dysphagia ORPHA:319213
Pediatric-Onset Graves Disease
Polyphagia, Polydipsia, Hyperactivity, Goiter ORPHA:525731
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Small for gestational age, Agitation, Hyperactivity ORPHA:424
Mosaic Variegated Aneuploidy Syndrome 1
Small for gestational age, Seizure, Agenesis of corpus callosum, Bilateral tonic-clonic seizure, ... OMIM:257300
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Small for gestational age, Myoclonic seizure, Failure to thrive, Focal impaired awareness seizure... OMIM:620024
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Failure to thrive, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Ataxia OMIM:618426
De Sanctis-Cacchione Syndrome
Mental deterioration, Choreoathetosis, Bilateral tonic-clonic seizure, Ataxia OMIM:278800
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Gait ataxia, Motor stereotypy, Overfriendliness OMIM:616579
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Combined Oxidative Phosphorylation Deficiency 3
Bilateral tonic-clonic seizure, Cognitive impairment, Seizure, Ataxia OMIM:610505
Wiedemann-Steiner Syndrome
Seizure, Short attention span, Low frustration tolerance, Aggressive behavior, Dysphagia, Hyperac... ORPHA:319182
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Weight loss, Bilateral tonic-clonic seizure, Ataxia, Generalized myoclonic sei... ORPHA:99885
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia OMIM:619147
Asparagine Synthetase Deficiency
Seizure, Tremor, Irritability, Exaggerated startle response, Clonic seizure OMIM:615574
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Failure to thrive, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... ORPHA:513456
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Kleefstra Syndrome 1
Compulsive behaviors, Aggressive behavior, Motor stereotypy, Seizure OMIM:610253
Schinzel-Giedion Syndrome
Annular pancreas, Central hypothyroidism, Streak ovary, Renal cyst, Micropenis, Hypospadias ORPHA:798
Hydroxykynureninuria
Motor stereotypy ORPHA:79155
White-Sutton Syndrome
Self-injurious behavior, Seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:468678
Phelan-Mcdermid Syndrome
Broad-based gait, Seizure, Bruxism, Aggressive behavior, Tongue thrusting, Unsteady gait, Motor s... OMIM:606232
Congenital Disorder Of Glycosylation, Type Iia
Seizure, Self-mutilation, Stereotypical hand wringing, Aggressive behavior, Unsteady gait, Motor ... OMIM:212066
Mucopolysaccharidosis Type 2
Mental deterioration, Abnormal temper tantrums, Optic atrophy, Decreased nerve conduction velocit... ORPHA:580
Fg Syndrome Type 1
Small pituitary gland, Broad-based gait, Cryptorchidism, Attention deficit hyperactivity disorder... ORPHA:93932
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Depression, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Chor... OMIM:612716
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Seizure, Hand tremor, Gait ataxia, Dysmetria, Aggressive behavior, Attention de... OMIM:614756
Dpagt1-Cdg
Inability to walk, Akinesia, Tremor, Emotional blunting, Ataxia ORPHA:86309
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Impaired oropharyngeal swallow response, Seizure, Exaggerated startle response ORPHA:521426
Trichotillomania
Hair-pulling OMIM:613229
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Ataxia, Small for gestational age, Typical absence seizure, Seizure, Febrile seizure (within the ... ORPHA:268261
Hallermann-Streiff Syndrome
Small for gestational age, Choreoathetosis, Bilateral tonic-clonic seizure, Hyperactivity OMIM:234100
Bardet-Biedl Syndrome 12
Hydrometrocolpos, Hypogonadism, Obesity, Cognitive impairment, Vaginal atresia OMIM:615989
Familial Gestational Hyperthyroidism
Weight loss, Hyperactivity, Agitation ORPHA:99819
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Adrenal hyperplasia ORPHA:231580
Hermansky-Pudlak Syndrome 10
Focal myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617050
Resistance To Thyrotropin-Releasing Hormone Syndrome
Depression, Increased circulating prolactin concentration, Pituitary hypothyroidism, Overweight, ... ORPHA:99832
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Hypospadias, Abnormal fear-induced behavior, Cryptorchidism, Retinopathy... ORPHA:353281
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Bilateral tonic-clonic seizure, Motor stereotypy, Seizure OMIM:301040
Arthrogryposis Multiplex Congenita 5
Dystonia, Akinesia, Hand tremor OMIM:618947
Nephronophthisis 4
Polydipsia OMIM:606966
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Seizure, Ataxia ORPHA:2479
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized non-motor (absence) seizure, Obesity, Generalized tonic seizure, Bilateral tonic-clon... ORPHA:369837
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polydipsia, Dysdiadochokinesis, Ataxia OMIM:612780
Rauch-Steindl Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619695
Panhypophysitis
Secondary growth hormone deficiency, Polydipsia, Increased circulating prolactin concentration, P... ORPHA:95513
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Myoclonic seizure, Seizure, Violent behavior, Large for gestational age, Gait ataxia, Bilateral t... OMIM:280000
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Mental deterioration, Depression, Limb dystonia, Axial dyst... ORPHA:646
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Generalized-onset seizure, Truncal ataxia, Bilateral tonic-clonic seizure, Atonic seizure OMIM:620066
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia OMIM:304800
Joubert Syndrome 6
Motor stereotypy, Ataxia OMIM:610688
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Small for gestational age, Lateral ventricle dilatation, Seizure, Decreased body weight, Colpocep... OMIM:620371
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Adrenocortical Carcinoma
Increased body weight, Weight loss, Irritability ORPHA:1501
Whipple Disease
Ataxia, Polydipsia, Anorexia ORPHA:3452
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Emotional lability, Hyperactivity OMIM:620047
Alström Syndrome
Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Elevated circulating ... ORPHA:64
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Decreased response to growth hormone stimulation test, Ex... ORPHA:177907
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Failure to thrive in infancy, Bilateral tonic-clonic seizure ORPHA:79124
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Memory impairment, Nonprogressive cerebellar ataxia, Dysmetria, Ataxia, Unsteady gait, Intention ... ORPHA:314647
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-mutilation, Repetitive compulsive behavior, Self-biting, Ataxia, Dystonia, Motor stereotypy,... ORPHA:522077
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure, Self-mutilation OMIM:619005
Histidinemia
Hyperactivity ORPHA:2157
Nephrogenic Diabetes Insipidus
Polydipsia, Anorexia ORPHA:223
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Polydipsia OMIM:617994
Pseudoleprechaunism Syndrome, Patterson Type
Bilateral tonic-clonic seizure, Atonic seizure ORPHA:2976
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Depression, Polydipsia, Impaired pain sensation, Seizure, Obesity, Emoti... ORPHA:293987
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Kleefstra Syndrome
Self-injurious behavior, Seizure, Self-mutilation, Aggressive behavior, Motor stereotypy ORPHA:261494
Aspartylglucosaminuria
Macroorchidism ORPHA:93
Turner Syndrome Due To Structural X Chromosome Anomalies
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... ORPHA:99413
Mosaic Monosomy X
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... ORPHA:99228
Monosomy X
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... ORPHA:99226
Turner Syndrome
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Premat... ORPHA:881
D-Bifunctional Protein Deficiency
Bilateral tonic-clonic seizure, Failure to thrive, Seizure OMIM:261515
Bainbridge-Ropers Syndrome
Self-injurious behavior, Seizure, Inability to walk, Recurrent hand flapping, Motor stereotypy OMIM:615485
Aspartylglucosaminuria
Macroorchidism OMIM:208400
X Small Rings
Bilateral tonic-clonic seizure, Seizure ORPHA:96201
Nephronophthisis 1
Polydipsia OMIM:256100
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Polydipsia, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the... ORPHA:93111
Tuberous Sclerosis Complex
Self-injurious behavior, Depression, Pituitary adenoma, Pheochromocytoma, Aggressive behavior, At... ORPHA:805
Pitt-Hopkins Syndrome
Self-injurious behavior, Gait ataxia, Motor stereotypy, Seizure OMIM:610954
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Seizure, Dysmetria, Aggressive behavior, Polyphagia, Hyperactivity, Coll... ORPHA:96121
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Multifocal seizures, Motor stereotypy,... OMIM:301044
Apparent Mineralocorticoid Excess
Polydipsia ORPHA:320
Mitochondrial Complex I Deficiency, Nuclear Type 1
Failure to thrive, Bilateral tonic-clonic seizure, Ataxia OMIM:252010
Helix Syndrome
Hyperparathyroidism, Polydipsia OMIM:617671
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Primary hyperparathyroidi... ORPHA:99880
Helsmoortel-Van Der Aa Syndrome
Typical absence seizure, Seizure, Bruxism, Irritability, Polyphagia, Attention deficit hyperactiv... OMIM:615873
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Focal myoclonic seizure, Seizure, Generalized-onset seizure, Inability to walk, Opisthotonus, Mot... ORPHA:508533
Van Esch-O'Driscoll Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure, Impulsivity OMIM:301030
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Seizure, Short attention span, Aggressive behavior, Multifocal seizures, Motor stereotypy OMIM:301066
Parathyroid Carcinoma
Polydipsia, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Pr... ORPHA:143
Wolfram Syndrome
Hypogonadism, Male hypogonadism, Polydipsia, Ataxia ORPHA:3463
Senior-Boichis Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Polydipsia, Agitation ORPHA:84081
Gitelman Syndrome
Salt craving, Polydipsia, Ataxia OMIM:263800
Nephronophthisis 11
Polydipsia OMIM:613550
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, ... ORPHA:1675
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Gm1 Gangliosidosis Type 1
Seizure, Exaggerated startle response ORPHA:79255
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Seizure, Attention deficit hyperactivity disorder, Gait disturbance, Simple febrile seizure, Moto... ORPHA:464311
Hyperparathyroidism, Neonatal Severe
Polydipsia, Primary hyperparathyroidism OMIM:239200
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
African Trypanosomiasis
Difficulty walking, Akinesia, Tremor, Irritability, Gait disturbance, Delirium, Choreoathetosis ORPHA:3385
Mend Syndrome
Abnormal social behavior, Aggressive behavior, Hyperactivity, Cryptorchidism ORPHA:401973
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hypospadias, Hematocolpos, Imperforate hymen, Cryptorchidism, Attention deficit hyperactivity dis... OMIM:619522
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Seizure, Gait ataxia, Dysmetria, Dysphagia, Ataxia, Truncal ataxia, Motor stere... OMIM:617330
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Seizure, Bilateral tonic-clonic seizure on awakening, Inability to walk, Epilep... ORPHA:438213
Gaucher Disease
Depression, Bilateral tonic-clonic seizure, Ataxia, Dysphagia, Generalized myoclonic seizure ORPHA:355
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure... ORPHA:459070
Ogden Syndrome
Generalized-onset seizure, Irritability, Dysphagia, Bilateral tonic-clonic seizure, Motor stereotypy OMIM:300855
Nephronophthisis 3
Polydipsia OMIM:604387
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Failure to thrive, Generalized non-motor (absence) seizure, Seizure, Tru... OMIM:612474
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Polydipsia, Ataxia ORPHA:35687
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Hypospadias, Abnormal fear-induced behavior, Cryptorchidism, Emotional l... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Hypospadias, Abnormal fear-induced behavior, Cryptorchidism, Emotional l... ORPHA:353277
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Renal Hypoplasia
Polydipsia ORPHA:93101
Cushing Disease
Depression, Memory impairment, Emotional lability, Increased body weight, Truncal obesity, Abdomi... ORPHA:96253
Dyrk1A-Related Intellectual Disability Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Gait disturbance, Hyperac... ORPHA:464306
Holoprosencephaly 14
Partial agenesis of the corpus callosum, Bilateral tonic-clonic seizure OMIM:619895
Toxic Epidermal Necrolysis
Polydipsia, Dysphagia, Abnormal vagina morphology ORPHA:537
Fragile X-Associated Tremor/Ataxia Syndrome
Memory impairment, Dementia, Gait ataxia, Dysmetria, Gait disturbance, Ataxia, Compulsive behavio... ORPHA:93256
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:73224
Hartsfield Syndrome
Bilateral tonic-clonic seizure, Agenesis of corpus callosum OMIM:615465
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Decreased response to growth hormone stimulation test, Inappropriate laughter... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Inappropriate laughter... ORPHA:363958
Oligomeganephronia
Polydipsia ORPHA:2260
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Motor stereotypy, Seizure ORPHA:468631
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Unsteady gait, Motor stereotypy, Seizure OMIM:616682
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Depression, Seizure, Attention deficit hyperactivity disorder, Compulsiv... ORPHA:534
Arima Syndrome
Polydipsia, Ataxia OMIM:243910
Cushing Syndrome Due To Ectopic Acth Secretion
Depression, Memory impairment, Anorexia, Emotional lability, Increased body weight, Weight loss, ... ORPHA:99889
Arboleda-Tham Syndrome
Seizure, Gait imbalance, Dysphagia, Dystonia, Motor stereotypy OMIM:616268
Sotos Syndrome
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Tall stature, Ag... ORPHA:821
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Motor stereotypy OMIM:618653
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Motor stereotypy, Hyperactivity, Seizure OMIM:309590
Infantile Nephropathic Cystinosis
Polydipsia ORPHA:411629
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Gitelman Syndrome
Salt craving, Polydipsia, Neoplasm of the pancreas, Parathyroid adenoma ORPHA:358
Doors Syndrome
Myoclonus, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:79500
1P36 Deletion Syndrome
Self-injurious behavior, Seizure, Polyphagia, Gait disturbance, Dysphagia, Motor stereotypy ORPHA:1606
Distal Renal Tubular Acidosis
Polydipsia ORPHA:18
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy ORPHA:508498
Norrie Disease
Self-injurious behavior, Seizure, Irritability, Attention deficit hyperactivity disorder, Motor s... ORPHA:649
Cystinosis, Nephropathic
Polydipsia, Dysphagia, Male hypogonadism OMIM:219800
Juvenile Nephropathic Cystinosis
Polydipsia ORPHA:411634
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia OMIM:602522
Primrose Syndrome
Self-injurious behavior, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:259050
Hellp Syndrome
Increased body weight ORPHA:244242
Autosomal Recessive Polycystic Kidney Disease
Biliary hyperplasia, Pancreatic cysts, Polydipsia ORPHA:731
Cornelia De Lange Syndrome 6
Hair-pulling OMIM:620568
Lowe Oculocerebrorenal Syndrome
Aggressive behavior, Motor stereotypy, Seizure OMIM:309000
Monosomy 22Q13.3
Hair-pulling ORPHA:48652
Coffin-Siris Syndrome 12
Motor stereotypy, Seizure OMIM:619325
Proximal Renal Tubular Acidosis
Polydipsia ORPHA:47159
Kabuki Syndrome 1
Lateral ventricle dilatation, Focal impaired awareness seizure, Bilateral tonic-clonic seizure wi... OMIM:147920
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating prolactin c... ORPHA:79318
Wolf-Hirschhorn Syndrome
Motor stereotypy, Seizure OMIM:194190
Bartter Syndrome, Type 2, Antenatal
Polydipsia OMIM:241200
Hypomagnesemia 3, Renal
Polydipsia OMIM:248250
Mowat-Wilson Syndrome
Broad-based gait, Seizure, Inability to walk, Bruxism, Focal-onset seizure, Dysphagia, Ataxia, At... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Seizure, Inability to walk, Bruxism, Dysphagia, Atypical absence seizure, Motor... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Seizure, Inability to walk, Bruxism, Dysphagia, Atypical absence seizure, Motor... 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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