Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
inositol (myo)-1(or 4)-monophosphatase 1
Synonyms:
lithium-sensitive myo-inositol monophosphatase A1,  2610002K09Rik,  2900059K10Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Impa1 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 associated to Impa1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 59
Aggressive behavior OMIM:617323

The table below shows human diseases predicted to be associated to Impa1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:617787
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
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
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Seizure, Hyperactivity OMIM:615493
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines OMIM:607373
Autism
Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines OMIM:209850
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Seizure, Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity, Seizure OMIM:300271
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur... OMIM:619970
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder, Seizure OMIM:607417
Intellectual Developmental Disorder, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Seizure, Inflexible adherence to routines, Bilateral tonic-clonic seizure, ... OMIM:608636
Developmental And Epileptic Encephalopathy 43
Ataxia, Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hyperactiv... OMIM:617113
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Seizure, Gait ataxia, Hyperactivity, Dysphagia, Status epilepticus, Impulsivity OMIM:620448
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Seizure, Infantile spasms, Aggressive behavior, Hyperactivity OMIM:619031
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,... OMIM:311895
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Attention deficit hyperac... OMIM:301008
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
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
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines OMIM:300495
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Bilateral tonic-clonic seizure, Motor stereotypy, Status epilepticus, Agitation OMIM:617171
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Parasomnia, Sleep Bruxism Type
Bruxism, Myoclonus OMIM:606840
Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis, Pierre-Robin sequence OMIM:261800
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Seizure ORPHA:436151
Hyperprolinemia, Type I
Seizure, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy, Status epilepticus OMIM:239500
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure OMIM:617863
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Developmental And Epileptic Encephalopathy 107
Tonic seizure, Motor stereotypy, Clonic seizure, Seizure OMIM:620033
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Seizure, Bruxism, Inappropriate laughter, Focal-onset seizure, Aggressive behavior, Ataxia... OMIM:619150
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy OMIM:606053
N-Acetylaspartate Deficiency
Broad-based gait, Seizure, Self-mutilation, Truncal ataxia, Unsteady gait, Motor stereotypy OMIM:614063
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure, Ataxia OMIM:618709
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure, Hyperactivity, Inflexible adherence to routines OMIM:301076
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Generalized-onset seizure, Hyperactivity, Seizure, Inability to walk OMIM:616657
Stxbp1-Related Encephalopathy
Ataxia, Generalized myoclonic seizure, Focal impaired awareness seizure, Seizure, Inability to wa... ORPHA:599373
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Motor stereotypy, Generalized myoclonic seizure, Seizure OMIM:616341
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis OMIM:617270
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Micrognathia, Abnormal morphology of ulna, Abnormal... ORPHA:3104
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Stereotypical hand wringing, Bilateral tonic-... OMIM:616056
Hartnup Disorder
Seizure, Episodic ataxia, Generalized tonic seizure, Attention deficit hyperactivity disorder, Hy... OMIM:234500
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Seizure, Ataxia OMIM:613402
Lennox-Gastaut Syndrome
Falls, Myoclonus, Focal-onset seizure, Aggressive behavior, Generalized tonic seizure, Hyperactiv... ORPHA:2382
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Ataxia, Focal impaired awareness seizure, Seizure, Aggressive behavior, ... ORPHA:382
Developmental And Epileptic Encephalopathy 58
Inability to walk, Motor stereotypy, Status epilepticus, Seizure OMIM:617830
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:620065
Developmental And Epileptic Encephalopathy 24
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a... OMIM:615871
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Seizure, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Cleft Palate, Isolated
Seizure, Micrognathia, Gingival overgrowth, Increased overbite, Cleft palate, Anterior open-bite ... OMIM:119540
Landau-Kleffner Syndrome
Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Generalized non-motor (a... ORPHA:98818
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Seizure, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Bilateral tonic-clonic seizure... OMIM:617862
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, Seizure, Inflexible adherence to routines OMIM:608049
Glycine Encephalopathy 1
Seizure, Myoclonus, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Polyphagia, Motor stereotypy, Seizure OMIM:613886
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Febrile seizure (within the age range of 3 months to 6 years), Inability... OMIM:618917
Catel-Manzke Syndrome
Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Radial deviation of the 2n... ORPHA:1388
Pierre Robin Syndrome And Oligodactyly
Finger aplasia, Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Microglossia, Temporomandibular joint ankylosis, Micrognathia, Cle... ORPHA:141152
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Tonic seizure, Gait disturbance, Hyperactivity, Bilate... OMIM:618090
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Seizure OMIM:300928
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Recurrent hand flapping, Focal hemiclonic seizure, Tonic... OMIM:618141
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy, Clonic seizure, Seizure OMIM:615282
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Epiphyseal stippling, Seizure, Glossoptosis OMIM:614876
Developmental And Epileptic Encephalopathy 109
Myoclonic seizure, Typical absence seizure, Crouch gait, Myoclonus, Gait ataxia, Focal hemiclonic... OMIM:620145
Epilepsy, Progressive Myoclonic, 9
Microglossia, Short thumb, Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure, Action ... OMIM:616540
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy, Seizure, Inability to walk OMIM:617820
Intellectual Developmental Disorder, Autosomal Recessive 38
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Recurrent hand flapping, ... OMIM:615516
Intellectual Developmental Disorder, Autosomal Dominant 67
Seizure, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive behaviors OMIM:619927
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Seizure, Overlapping toe, Recurrent hand flapping, Malar flattening, Open mouth, Attention defici... OMIM:620021
Intellectual Developmental Disorder, Autosomal Recessive 74
Seizure, Brachydactyly, Hyperactivity, Narrow palate, Mandibular prognathia OMIM:617169
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity, Seizure OMIM:248510
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Seizure, Difficulty walking, Infantile spasms, Tonic seizure, Nocturnal seizures, Motor stereotyp... OMIM:617393
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Micrognathia, Malar flattening, Abnormal metacarpal morphology, Osteoarthritis, Gl... ORPHA:166100
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy, Seizure OMIM:618906
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Seizure ORPHA:85288
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular... OMIM:614669
Auriculocondylar Syndrome 4
Micrognathia, Narrow mouth, Glossoptosis, Cleft palate OMIM:620457
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Bruxism, Hyperactivity, Seizure OMIM:300434
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Shoulder flexion contracture, Retrognathia, Pursed lips, Camptodactyly of... OMIM:619110
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Seizure, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Pa... OMIM:618718
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Generalized non-motor (absence) seizure, Seizure, Aggressive behavior, H... OMIM:271980
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... OMIM:619317
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Micrognathia, Bowing of the arm, Cleft palate, Bowing of t... OMIM:249710
Pallister-Hall-Like Syndrome
Postaxial foot polydactyly, Toe syndactyly, Microglossia, Occipital encephalocele, Micrognathia, ... OMIM:241800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Myoclonus, Disinhibition, Aggressive behavior, Gait disturbance, Restless... OMIM:600795
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Micrognathia, Narrow mouth, Everted lower lip vermilion, Cleft palate ORPHA:2016
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... OMIM:613670
16P11.2P12.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Cleft palate, Seizure ORPHA:261204
Satb2-Associated Syndrome Due To A Pathogenic Variant
Bifid uvula, Abnormality of the dentition, Broad thumb, Typical absence seizure, Seizure, Celiac ... ORPHA:576283
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Seizure, Generalized-onset seizure, Aggressive b... OMIM:619827
Pitt-Hopkins-Like Syndrome 1
Focal impaired awareness seizure, Status epilepticus, Generalized-onset seizure, Aggressive behav... OMIM:610042
Whistling Face Syndrome, Recessive Form
Whistling appearance, Ulnar deviation of finger, Microglossia, Shoulder flexion contracture, Long... OMIM:277720
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity, Seizure OMIM:617182
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbanc... ORPHA:275864
Xq25 Microduplication Syndrome
Seizure, Malar flattening, Hyperactivity, Thick vermilion border, Mandibular prognathia ORPHA:521258
Intellectual Developmental Disorder, X-Linked 104
Retrognathia, Seizure, Aggressive behavior, Hyperactivity, High palate OMIM:300983
Encephalopathy, Progressive, With Or Without Lipodystrophy
Myoclonus, Hyperactivity, Seizure, Ataxia OMIM:615924
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Seizure, Tongue atrophy, Short mandibular rami OMIM:141300
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Atte... OMIM:620292
Intellectual Developmental Disorder, X-Linked 30
Prominent fingertip pads, Seizure, Generalized non-motor (absence) seizure, Thick upper lip vermi... OMIM:300558
Intellectual Developmental Disorder, X-Linked 107
Seizure, Prominent crus of helix, Thin upper lip vermilion, Aggressive behavior, Attention defici... OMIM:301013
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Exaggerated median tongue furrow, Dental crowding, Seizure, Hyperplasia ... ORPHA:313892
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Seizure, Generalized-onset seizure, Micrognathia, Self-mutilation, Aggressive behavior, Hyperacti... OMIM:604317
Joubert Syndrome 18
Occipital encephalocele, Retrognathia, Intrauterine growth retardation, Trident pelvis, Bowing of... OMIM:614815
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Elbow dislocation, Retrognathia, Knee dislocation, Small epiphyses, Adducted thumb, Short long bo... OMIM:620269
Poirier-Bienvenu Neurodevelopmental Syndrome
Myoclonic seizure, Downturned corners of mouth, Open mouth, Protruding tongue, Smooth philtrum, M... OMIM:618732
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Microglossia, Short thumb, Retrognathia, Micrognathia, Narrow mouth, Fibular hy... OMIM:227270
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Retrognathia, Thick lower lip vermilion, Bruxism, Persistence of primary teeth, ... OMIM:618342
Foxg1 Syndrome
Difficulty walking, Bruxism, Inability to walk, Infantile spasms, Myoclonus, Stereotypical hand w... ORPHA:561854
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Recurrent hand flapping, Myoclonus, A... OMIM:617600
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Short distal phalanx of finger, Joint dislocation, Short toe, Abnormal mandi... ORPHA:3201
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Hypop... OMIM:252100
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Malar flattening, Split hand, Cleft palate, Split foot OMIM:183700
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:609425
Shukla-Vernon Syndrome
Broad-based gait, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, Motor s... OMIM:301029
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Abnormal metacarpal mo... ORPHA:1452
Ck Syndrome
Microretrognathia, Dental crowding, Seizure, Malar flattening, Aggressive behavior, Long toe, Hyp... ORPHA:251383
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Generalized myoclonic seizure, Typical absence seizure, Oral-pharyngeal ... ORPHA:208447
Clark-Baraitser Syndrome
Sandal gap, Clinodactyly, Seizure, Downturned corners of mouth, Long philtrum, Exaggerated cupid'... OMIM:617752
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Atten... OMIM:618761
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Downturned corners of mouth, Seizure, Malar flattening, Short philtrum, Ectopic anus, Aplasia/Hyp... ORPHA:94066
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Oral-pharyngeal dys... ORPHA:199306
Ck Syndrome
Dental crowding, Retrognathia, Seizure, Micrognathia, Malar flattening, Abnormal digit morphology... OMIM:300831
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Seizure, 11 pairs of ribs, Micrognathia, Myoclonus, Aggressive behavior, Glossoptosis, Cleft pala... OMIM:618356
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Sandal gap, Seizure, Macrodontia, Open mouth, Malar flattening, Tented u... ORPHA:228402
Chromosome Xq25 Duplication Syndrome
Seizure, Malar flattening, Hyperactivity, Thick vermilion border, Mandibular prognathia OMIM:300979
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Myoclonic seizure, Motor stereotypy OMIM:619690
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Focal sensory seizure with somatosensory features, Focal impaired a... ORPHA:1929
Parietal Foramina 1
Cleft upper lip, Seizure, Encephalocele, Wormian bones, Cleft palate OMIM:168500
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Generalized non-motor (absence) seizure, Seizure, Infantile spasms, Myoc... ORPHA:485350
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity, Seizure OMIM:618362
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Retrognathia, Seizure, Umbilical hernia, Intrauterine growth retardation, Death in c... OMIM:612938
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy, Dysphagia, Knee flexion contracture ORPHA:496689
Lowry-Maclean Syndrome
Craniosynostosis, Intrauterine growth retardation, Delayed eruption of teeth, Cleft palate OMIM:600252
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Dysphagia, Disinhibition OMIM:612069
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Lobulated tongue, M... OMIM:258860
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Seizure, Difficulty walking, Inability to walk, Limb a... OMIM:617695
Alazami-Yuan Syndrome
Dental crowding, Broad hallux, Long philtrum, Narrow mouth, Thin upper lip vermilion, Hyperactivi... OMIM:617126
Intellectual Developmental Disorder, Autosomal Recessive 13
Slender finger, Downturned corners of mouth, Seizure, Cleft upper lip, Bruxism, Recurrent hand fl... OMIM:613192
Gand Syndrome
Inappropriate laughter, Thin upper lip vermilion, Long toe, Hyperactivity, Long fingers, Tics, Sh... OMIM:615074
Clark-Baraitser syndrome
Genu recurvatum, Exaggerated median tongue furrow, Seizure, Thick lower lip vermilion, Genu valgu... OMIM:300602
Intellectual Developmental Disorder, X-Linked 21
Dental crowding, Seizure, Open mouth, Tented upper lip vermilion, Hyperactivity, Mandibular progn... OMIM:300143
Rubinstein-Taybi Syndrome 2
Narrow palate, Broad thumb, Carious teeth, Prominent fingertip pads, Short 5th toe, Broad hallux,... OMIM:613684
Juvenile Huntington Disease
Broad-based gait, Seizure, Myoclonus, Gait ataxia, Hyperactivity, Ataxia, Progressive cerebellar ... ORPHA:248111
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Downturned corners of mouth, Seizure, 2-3 toe syndactyly, Thin upper lip vermilion, Clinodactyly ... OMIM:613443
Orofaciodigital Syndrome Iii
Bifid uvula, Postaxial foot polydactyly, Myoclonus, Microdontia, Short sternum, Postaxial hand po... OMIM:258850
Coffin-Siris Syndrome 2
Short distal phalanx of finger, Sandal gap, Seizure, Delayed eruption of teeth, Long philtrum, Th... OMIM:614607
Atypical Pantothenate Kinase-Associated Neurodegeneration
Violent behavior, Dysphagia, Compulsive behaviors, Tongue atrophy, Impulsivity ORPHA:216873
Intellectual Developmental Disorder, Autosomal Dominant 7
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Thick lower lip vermilion... OMIM:614104
Cataract-Intellectual Disability-Hypogonadism Syndrome
Tooth malposition, Ulnar deviation of finger, Furrowed tongue, Abnormal distal phalanx morphology... ORPHA:1387
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Microglossia, Short tibia, Short thumb, Sandal gap, Radial c... ORPHA:1972
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate, Hydrocephalus, Death in infancy OMIM:258320
Developmental And Epileptic Encephalopathy 103
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Tonic seizur... OMIM:619913
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Postaxial foot polydactyly, Postaxial polysyndactyly of foot, A... ORPHA:2919
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Carious teeth, Microretrognathia, Knee dislocation, Tooth agenesis, Small ... OMIM:618363
Lopes-Maciel-Rodan Syndrome
Seizure, Bruxism, Dysphagia, Unsteady gait, Motor stereotypy, Focal impaired awareness seizure, A... OMIM:617435
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Retrognathia, Seizure, Umbilical hernia, Micrognathia, Narrow mout... ORPHA:352490
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Seizure, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Phenylketonuria
Seizure, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:261600
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Difficulty in tongue movements, Microglossia, Dental mal... ORPHA:137888
Aminoacylase 1 Deficiency
Bilateral tonic-clonic seizure, Hyperactivity, Seizure OMIM:609924
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Seizure, Short finger, Long philtrum, 2-3 toe syndactyly, Aggressive beh... OMIM:619467
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Seizure, Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dysphagia, Impulsivity ORPHA:500180
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Man... OMIM:602483
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Myoclonus, Attention deficit hyperactivity disorder, Motor tics, Nocturnal seizures, Bilateral to... OMIM:619725
Intellectual Disability, Birk-Barel Type
High, narrow palate, Tongue fasciculations, Micrognathia, Open mouth, Tented upper lip vermilion,... ORPHA:166108
Orofaciodigital Syndrome Xix
Narrow palate, Toe syndactyly, Postaxial foot polydactyly, Broad hallux, Carious teeth, Type A br... OMIM:620107
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Encephalocele, Anal atresia, Flat acetabular roof, Cleft lip, Hamartoma... OMIM:616300
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Seizure, Aggressive behavior, H... ORPHA:3077
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Capitate-hamate fusion, Short toe, Knee dislocation, Genu valgum, Limit... OMIM:614078
Atelosteogenesis, Type Ii
Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micrognathia, Malar fl... OMIM:256050
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Myoclonic seizure, Seizure, Focal clonic seizure, Bilateral tonic-clonic seizur... OMIM:618067
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Femoral bowing, Micrognathia, Dumbbell-shaped long bone, Brachydactyly, Met... ORPHA:440354
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Seizure, Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter, Impulsivity,... OMIM:620445
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Clinodactyly, Intrauterine growth retardation, Micrognathia, Open mouth, Thin upper lip vermilion... OMIM:613604
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Myoclonic seizure, Typical absence seizure, Seizure, Inability to walk, Myoclonus, Obsess... ORPHA:168491
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Generalized non-motor (absence) seizure, Generalized-onset seizure, Bila... OMIM:615637
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Myoclonic seizure, Focal impaired awareness seizure, Inability to walk, Epileptic spasm, Recurren... OMIM:619580
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Absent thumb, Seizure, Infantile spasms, Submucous cleft hard palate, Tonic seizure,... OMIM:619239
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Mandibular prognathia, Seizure, Widely spaced teeth, Wide mouth, Protruding tongue, Bilateral ton... ORPHA:98795
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy, Dysphagia, Seizure OMIM:158900
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Seizure, Generalized-onset seizure, Hyperactivity, Self-biting, Status epilepticus OMIM:618314
Lipoid Proteinosis
Abnormal oral mucosa morphology, Microglossia, Seizure, Thick lower lip vermilion, Abnormality of... ORPHA:530
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Abnormality of the ankle, Microretro... ORPHA:1307
Trisomy 8Q
Camptodactyly of finger, Myelomeningocele, Micrognathia, Abnormal oral frenulum morphology, Orofa... ORPHA:1752
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity, Seizure ORPHA:457260
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short distal phalanx of finger, Hypoplasia of the maxilla, Restlessness, Seizure, Diastema, Furro... OMIM:300534
Cerebrocostomandibular Syndrome
Posterior rib gap, Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Micrognath... ORPHA:1393
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Bifid uvula, Dumbbell-shaped femur, Sandal gap, Abnormal joint morphology, ... ORPHA:1427
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Attention deficit hyperactivity... OMIM:619736
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Bifid uvula, Small hand, Cleft lip, Clinodactyly, Seizure, Sandal gap, Downturned corners of mout... OMIM:618089
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Hypoplasia of t... ORPHA:989
Baker-Gordon Syndrome
Self-injurious behavior, Inability to walk, Ataxia, Motor stereotypy, Choreoathetosis OMIM:618218
Intellectual Developmental Disorder, Autosomal Recessive 61
Conical tooth, Prominent fingertip pads, Infantile spasms, Aggressive behavior, Tonic seizure, Hy... OMIM:617773
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:620502
Enlarged Parietal Foramina
Broad thumb, Cleft lip, Occipital encephalocele, Seizure, Myelomeningocele, Short clavicles, Cran... ORPHA:60015
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Retrognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Ma... ORPHA:2521
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Myoclonus, Gait ataxia, Bilateral tonic-clonic seizure with generalized onset,... OMIM:619092
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Broad distal phalanx of finger, Generalized non-motor (absence) seizure, Inappropriate laughter, ... ORPHA:363686
Myoclonic-Astatic Epilepsy
Atonic seizure, Generalized non-motor (absence) seizure, Long philtrum, Thick lower lip vermilion... ORPHA:1942
Auriculocondylar Syndrome 3
Bifid uvula, Micrognathia, Retrognathia, Glossoptosis OMIM:615706
Orofaciodigital Syndrome Type 2
Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi... ORPHA:2751
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever... OMIM:616367
Chromosome Xq13 Duplication Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Intrauterine growth retar... OMIM:301069
Arthrogryposis, Distal, Type 5D
Congenital hip dislocation, Tongue atrophy, Elbow flexion contracture, Furrowed tongue, Micrognat... OMIM:615065
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Hallux valgus, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiph... ORPHA:397973
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Preaxial foot polydactyly, Micrognathia, Hydrocephalus, Postaxial han... OMIM:614120
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Natal tooth, Abnormal mandible morphology OMIM:217150
Fragile X Syndrome
Seizure, Recurrent hand flapping, Hyperactivity, Self-biting OMIM:300624
Tarp Syndrome
Meckel diverticulum, Clinodactyly, Seizure, Intrauterine growth retardation, Micrognathia, Glosso... OMIM:311900
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
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... ORPHA:90652
Potocki-Lupski Syndrome
Mandibular prognathia, Dental malocclusion, Dental crowding, Seizure, Oral-pharyngeal dysphagia, ... OMIM:610883
Seckel Syndrome 1
Ivory epiphyses, Micrognathia, High palate, Dislocated radial head, Cone-shaped epiphyses of the ... OMIM:210600
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, Split hand, Camptodactyly, High palat... OMIM:246560
Angelman Syndrome Due To A Point Mutation
Mandibular prognathia, Seizure, Widely spaced teeth, Inappropriate laughter, Abnormal eating beha... ORPHA:411511
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Seizure, Obsessive-compulsive trait, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:618825
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Microglossia, Camptodactyly of finger,... ORPHA:2839
Burning Mouth Syndrome
Tongue pain, Strawberry tongue, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa... ORPHA:353253
Joubert Syndrome 15
Exencephaly, Preaxial polydactyly OMIM:614464
Glass Syndrome
Micrognathia, Narrow mouth, Arachnodactyly, High palate, Restlessness, Pierre-Robin sequence, Oli... OMIM:612313
16P12.1P12.3 Triplication Syndrome
Short 5th finger, High, narrow palate, Prominent fingertip pads, Retrognathia, Long philtrum, Int... ORPHA:485405
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Dysphagia, Tongue atrophy OMIM:613435
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy, Seizure OMIM:618504
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Narro... OMIM:200990
Smith-Magenis Syndrome
Abnormality of the dentition, Mandibular prognathia, Head-banging, Velopharyngeal insufficiency, ... OMIM:182290
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within the a... ORPHA:64280
Orofaciodigital Syndrome Xv
Midline notch of upper alveolar ridge, Broad hallux, Duplication of phalanx of hallux, Postaxial ... OMIM:617127
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Mandibular prognathia, Seizure, Widely spaced teeth, Inappropriate laughter, Abnormal eating beha... ORPHA:98794
Primary Dystonia, Dyt13 Type
Motor stereotypy ORPHA:98807
Orofaciodigital Syndrome V
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Hamartoma of tongue, Ankyloglossia, Overfrie... OMIM:174300
3P25.3 Microdeletion Syndrome
Broad thumb, Overlapping toe, Micrognathia, 2-3 finger syndactyly, Motor stereotypy, High, narrow... ORPHA:435638
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Ectopic anus, Spina bifida, Anencephaly, Non-midline cleft of t... ORPHA:2476
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Abnormal rib morphology, Cleft palate, Pie... OMIM:602196
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Seizure ORPHA:85277
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory oral frenulum... OMIM:277170
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Camptodactyly of finger, Furro... ORPHA:2928
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Carious teeth, Flared metaphysis, Small ep... ORPHA:93346
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Narrow mouth, Malar flattening, Death in infancy, Arachnodactyly, Cleft palate ORPHA:93946
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Seizure, Persistence of primary teeth, Malar flattening, Prot... OMIM:610253
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Attention deficit hyperactivity disorder, Nocturnal seizures, Bilater... ORPHA:98784
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Abnormality of frontal sinus, Short thumb, Overlapping toe, Micrognathia, Ar... ORPHA:436003
Intellectual Developmental Disorder, Autosomal Dominant 29
Ankyloglossia, Cutaneous finger syndactyly, Open mouth, Narrow mouth, High palate, Self-injurious... OMIM:616078
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Diaphanospondylodysostosis
Myelomeningocele, Missing ribs, Narrow pelvis bone, Cleft palate, Abnormal vertebral segmentation... ORPHA:66637
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Micrognathia, So... OMIM:602418
Acro-Renal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Hypoplasia of the zygomat... ORPHA:958
Intellectual Developmental Disorder, Autosomal Dominant 43
Seizure, Umbilical hernia, Gingival overgrowth, Narrow mouth, Increased overbite, Thin upper lip ... OMIM:616977
Xq28 (MECP2) duplication
Seizure, Inability to walk, Gait ataxia, Dysphagia, Motor stereotypy DECIPHER:45
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Intellectual Developmental Disorder, X-Linked 98
Bulimia, Open mouth, Self-biting, Motor stereotypy, Downturned corners of mouth, Generalized non-... OMIM:300912
Cohen Syndrome
Finger syndactyly, Genu valgum, Micrognathia, Open mouth, Arachnodactyly, High, narrow palate, Hy... ORPHA:193
Kinsship Syndrome
Ankyloglossia, Micrognathia, Dislocated radial head, Motor stereotypy, Hip dislocation, Downturne... OMIM:619297
Childhood Disintegrative Disorder
Motor stereotypy, Seizure ORPHA:168782
19P13.3 Microduplication Syndrome
Self-injurious behavior, Clinodactyly, Febrile seizure (within the age range of 3 months to 6 yea... ORPHA:447980
Orofaciodigital Syndrome I
Carious teeth, Clinodactyly, Ankyloglossia, High palate, Syndactyly, Hamartoma of tongue, Myelome... OMIM:311200
Stuve-Wiedemann Syndrome 1
Thin ribs, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Bowing... OMIM:601559
Dentici-Novelli Neurodevelopmental Syndrome
Myoclonic seizure, Inability to walk, Epileptic spasm, Bilateral tonic-clonic seizure, Motor ster... OMIM:619877
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Micrognathia, Open mouth, Irregular dentition, Encephalocele, Anal atresia, High... OMIM:619148
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Seizure, Micrognathia, Thick vermilion border, Hyperactivity, Hip dyspl... ORPHA:530983
Orofaciodigital Syndrome Type 3
Bifid uvula, Abnormality of the dentition, Postaxial foot polydactyly, Hamartoma of tongue, Myocl... ORPHA:2752
Distal 22Q11.2 Microdeletion Syndrome
Toe syndactyly, Ankyloglossia, Narrow mouth, Arachnodactyly, Bowing of the long bones, Short palm... ORPHA:261330
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Slender long bone, Seizure, Retrognathia, Long philtrum, Diastema, Macrodo... OMIM:212066
Moebius Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Aplasia/Hypoplasia of the tongue, Tooth agen... ORPHA:570
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Tongue atrophy, Hip dislocation, Seizure OMIM:614678
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar f... OMIM:241310
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Neonatal death, Holoprosencephaly, Short foot, Short toe, Hama... OMIM:269860
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef... OMIM:192445
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Shallow acetabular fossae, Micrognathia, Narrow mouth, High palate, Short foot, Pierr... OMIM:611209
Christianson Syndrome
Generalized-onset seizure, Inappropriate laughter, Gait ataxia, Dysphagia, Truncal ataxia, Motor ... ORPHA:85278
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Seizure, Cleft upper lip, Aggressive behavior, Hyperactivity, Cleft palate OMIM:300958
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Intrauterine growth retardation, Abnormal morphology of ulna, H... ORPHA:2167
Agnathia-Otocephaly Complex
Microglossia, Aglossia, Micrognathia, Narrow mouth, Mandibular aplasia, Holoprosencephaly, Cleft ... OMIM:202650
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Focal impaired awareness seizure, Seizure, Infantile spasms, Tonic seizure, Bilateral tonic-cloni... OMIM:619428
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Seizure, Stereotypical hand wringing, Skin-picking, Aggressive behavior,... OMIM:600430
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Intrauterine growth retardation, Absent front... OMIM:253250
Angelman Syndrome
Self-injurious behavior, Mandibular prognathia, Seizure, Widely spaced teeth, Inappropriate laugh... ORPHA:72
Cronkhite-Canada Syndrome
Seizure, Furrowed tongue, Stomach cancer, Intestinal polyposis, Tapered finger, Anorexia, Hypogeu... ORPHA:2930
Hypoglossia With Situs Inversus
Microglossia, Micrognathia, Narrow mouth, Hypodontia, High palate OMIM:612776
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Broad thumb, Intestinal malrotation, Micrognathia, Bilateral cleft palate, Bifid tongue, Clinodac... ORPHA:2001
Hypoglossia-Hypodactylia
Microglossia, Retrognathia, Adactyly, Aglossia, Micrognathia, Narrow mouth, Split hand OMIM:103300
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D... OMIM:311300
Gracile Bone Dysplasia
Thin ribs, Slender long bone, Flared metaphysis, Seizure, Ankyloglossia, Death in infancy, Brachy... OMIM:602361
Hijazi-Reis Syndrome
Gait disturbance, Motor stereotypy, Seizure OMIM:301094
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Finger syndactyly, Intrauterine growth retardation, Micrognathia, Encephalocel... ORPHA:1908
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Anal atresia, Cone-shaped epiphysis, Hamartoma of tongue, Femoral bowing, Horizontal ribs, Fibula... OMIM:613091
Developmental And Epileptic Encephalopathy 100
Small hand, Micrognathia, Protruding tongue, High palate, Dysphagia, Motor stereotypy, Infantile ... OMIM:619777
Inverted Duplicated Chromosome 15 Syndrome
Seizure, 2-3 toe syndactyly, Aggressive behavior, Short philtrum, Brachydactyly, Self-biting, Hyp... ORPHA:3306
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
2-3 toe cutaneous syndactyly, Retrognathia, Generalized non-motor (absence) seizure, Febrile seiz... OMIM:301091
Frontorhiny
Cranium bifidum occultum, Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger... ORPHA:391474
Hyperlysinemia, Type I
Dysdiadochokinesis, Hyperactivity, Seizure, Febrile seizure (within the age range of 3 months to ... OMIM:238700
Plummer-Vinson Syndrome
Narrow mouth, Intra-oral hyperpigmentation, Esophageal web, Dysphagia, Glossitis, Cheilitis, Tong... ORPHA:54028
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Slender long bone, Retrognathia, Generalized-onset seizure, Micrognathia, Brachydactyl... OMIM:618265
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
2-3 toe cutaneous syndactyly, Seizure, Thin upper lip vermilion, Aggressive behavior, Attention d... OMIM:620242
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Broad thumb, Prominent fingertip pads, Seizure, Prominent crus of helix, Bruxism, Open mouth, Pro... OMIM:617804
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... OMIM:268310
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Houge-Janssens Syndrome 3
Self-injurious behavior, Generalized non-motor (absence) seizure, Focal-onset seizure, Attention ... OMIM:618354
Angelman Syndrome
Hypoplasia of the maxilla, Seizure, Widely spaced teeth, Wide mouth, Protruding tongue, Paroxysma... OMIM:105830
Tetraamelia Syndrome 2
Microretrognathia, Ankyloglossia, Micrognathia, Bilateral cleft lip, Glossoptosis, Cleft palate OMIM:618021
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy, Seizure ORPHA:529965
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Seizure, Abnormal tongue morphology, Polydactyly, Hip dysplasia, Cra... ORPHA:531151
Developmental And Epileptic Encephalopathy 80
Short distal phalanx of finger, Seizure, Long philtrum, Micrognathia, Tented upper lip vermilion,... OMIM:618580
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Seizure, Ankyloglossia, Malar flattening, Bilateral cleft palate, Thin upper lip vermilion, Bilat... OMIM:618874
Schneckenbecken Dysplasia
Hypoplastic scapulae, Stillbirth, Umbilical hernia, Advanced tarsal ossification, Malar flattenin... OMIM:269250
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Broad thumb, Toe syndactyly, Downturned corners of mouth, Seizure, Long philtrum, Micrognathia, O... OMIM:619720
Orofaciodigital Syndrome Type 6
Midline notch of upper alveolar ridge, Lobulated tongue, Seizure, Finger clinodactyly, Preaxial p... ORPHA:2754
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep p... OMIM:605282
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Self-injurious behavior, Long philtrum, Thick lower lip vermilion, Tented upper lip vermilion, Th... OMIM:620075
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Seizure, Focal-onset seizure, Self-mutilation, Stereotypical hand wring... ORPHA:163681
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Deviation of the 2nd finger, Clinodactyly, Finger syndactyly, Seizure, Retro... ORPHA:464738
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hypoplasia of the maxilla, Broad thumb, Dental crowding, Seizure, Micrognathia, Open mouth, Arach... OMIM:309520
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Nar... OMIM:228520
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
5Q14.3 Microdeletion Syndrome
Motor stereotypy, Seizure ORPHA:228384
Meckel Syndrome, Type 2
Intestinal malrotation, Intrauterine growth retardation, Encephalocele, Polydactyly, Bowing of th... OMIM:603194
Orofaciodigital Syndrome Type 1
Finger syndactyly, Open bite, Micrognathia, Foot polydactyly, High palate, Tarsal synostosis, Acc... ORPHA:2750
Autosomal Recessive Robinow Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Synostosis of carpal bones, Elbow dislocation, Op... ORPHA:1507
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Microglossia, Cleft mandible... ORPHA:364577
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal lip morphology, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Missing ribs, Abnormal... ORPHA:2759
Cerebrocostomandibular Syndrome
Carious teeth, Micrognathia, Cleft soft palate, Short hard palate, High palate, Pierre-Robin sequ... OMIM:117650
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Seizure, Recurrent hand flapping, Aggressive b... ORPHA:449291
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Treacher-Collins Syndrome
Open bite, Micrognathia, Narrow mouth, Encephalocele, High palate, Rectovaginal fistula, Hypoplas... ORPHA:861
Galloway-Mowat Syndrome 6
Paroxysmal bursts of laughter, Motor stereotypy, Seizure OMIM:618347
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Seizure, Pterygium, Intrauterine growth retardation, Micrognathia, Hydrocephalus... OMIM:225790
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Everted lower lip vermilion, High... OMIM:608670
Rauch-Steindl Syndrome
Long philtrum, Prominent crus of helix, Intrauterine growth retardation, Micrognathia, Aggressive... OMIM:619695
Raine Syndrome
Natal tooth, Long hallux, Micrognathia, Narrow mouth, Malar flattening, Death in infancy, Neonata... OMIM:259775
Mandibuloacral Dysplasia
Dental crowding, Delayed cranial suture closure, Abnormal tongue morphology, Micrognathia, Short ... ORPHA:2457
Carey-Fineman-Ziter Syndrome
Ulnar deviation of finger, Long philtrum, Aplasia/Hypoplasia of the tongue, Micrognathia, Brachyd... ORPHA:1358
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Seizure, Recurrent hand flapping, Aggressive behavior, Attention deficit... OMIM:300986
Adenylosuccinase Deficiency
Seizure, Long philtrum, Inappropriate laughter, Myoclonus, Self-mutilation, Thin upper lip vermil... OMIM:103050
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Self-mutilation, Gait disturbance, Bilateral tonic-clonic seizure, Motor stereotypy ORPHA:457240
Schisis Association
Unilateral cleft lip, Encephalocele, Tracheoesophageal fistula, Spina bifida, Anal atresia, Anenc... ORPHA:63862
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Stereotypical body rocking, Unsteady gait, Tongue thrusting, Hyperactivity, Ata... OMIM:617865
Achondrogenesis, Type Ii
Microretrognathia, Long philtrum, Broad long bones, Short tubular bones of the hand, Hypoplastic ... OMIM:200610
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Myoclonic seizure, Dysphagia, Infantile spasms ORPHA:572013
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Neonatal death, Radial head subluxation,... OMIM:146510
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft lip, Neural tube defect, Bilateral cleft palate OMIM:600776
Hydrolethalus
Bifid uvula, Gingival cleft, Retrognathia, Unilateral cleft lip, Micrognathia, Submucous cleft ha... ORPHA:2189
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Broad-based gait, Motor stereotypy, Bilateral tonic-clonic seizure OMIM:616351
Catel-Manzke Syndrome
Ulnar deviation of the 2nd finger, Genu valgum, Micrognathia, Narrow mouth, High palate, Short me... OMIM:616145
Developmental And Epileptic Encephalopathy 31B
Myoclonic seizure, Seizure, Infantile spasms, Myoclonus, Protruding tongue, Gingival overgrowth, ... OMIM:620352
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Intrauterine growth retardation, Malar flattening, Brachydactyly, Short me... OMIM:614613
Snijders Blok-Campeau Syndrome
Broad-based gait, Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, ... OMIM:618205
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Bowing of the long bones, P... OMIM:611561
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Tongue atrophy, Limb myoclonus, Attention deficit hyperactivity disorder, ... ORPHA:276198
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short lingual f... OMIM:180700
Alazami Syndrome
Seizure, Abnormal eating behavior, Self-mutilation, Stereotypical hand wringing, Motor stereotypy ORPHA:319671
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Seizure, Aggressive behavior, Hyperactivity, Ataxia, Compulsive behaviors, Motor stereotypy OMIM:618430
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Narrow mouth, Death in infancy, Craniosynostosis, ... ORPHA:1790
Tarp Syndrome
Clinodactyly, Finger syndactyly, Seizure, Hypoplasia of proximal radius, Intrauterine growth reta... ORPHA:2886
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Seizure, Furrowed tongue, Tented upper lip vermilion, 2-3 toe syndactyly, Short phi... OMIM:616449
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Pilarowski-Bjornsson Syndrome
Motor stereotypy, Seizure OMIM:617682
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N... OMIM:235510
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Radial deviation of finger, Clinodactyly, Seizure, Widely-spaced maxillary... OMIM:301040
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Broad thumb, Finger syndactyly, Long philtrum, Preaxial hand polydactyly, Delayed cranial suture ... ORPHA:2211
Pfeiffer Syndrome Type 2
Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Seizure, Inte... ORPHA:93259
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Seizure, Inability to walk, Bruxism, Motor stereotypy, Status epilepticus OMIM:618004
Developmental And Epileptic Encephalopathy 2
Seizure, Generalized-onset seizure, Inability to walk, Infantile spasms, Myoclonus, Multifocal se... OMIM:300672
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bifid uvula, Macroglossia, Downturned corners of mouth, Seizure, Bruxism, Intrauterine growth ret... ORPHA:453499
Au-Kline Syndrome
Bifid uvula, Dental malocclusion, Retrognathia, Downturned corners of mouth, Overlapping toe, Ope... OMIM:616580
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Oligodactyly, Intrauterine growth retardation, Micrognathia, Narrow mo... OMIM:251230
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Small hand, Rocker bottom foot, Microretrognathia, Clinodactyly, Seizure, Downturned corners of m... ORPHA:488642
X-Linked Intellectual Disability, Cabezas Type
Small hand, Toe syndactyly, Sandal gap, Seizure, Camptodactyly of finger, Open bite, Thick lower ... ORPHA:85293
Seckel Syndrome 2
Clinodactyly of the 5th finger, Micrognathia, Microglossia, Microdontia OMIM:606744
Developmental And Epileptic Encephalopathy 49
Myoclonic seizure, Thick upper lip vermilion, Myoclonus, Open mouth, Tented upper lip vermilion, ... OMIM:617281
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Seizure, Inability to walk, Focal-onset seizure, Dysphagia, Motor stereotypy, Status epilepticus OMIM:617802
Carey-Fineman-Ziter Syndrome 1
Microglossia, Retrognathia, Seizure, Micrognathia, Trismus, Pierre-Robin sequence, High palate, G... OMIM:254940
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Encephalocele, Neonatal death, A... OMIM:108720
1Q21.1 Microdeletion Syndrome
Broad thumb, Toe syndactyly, Seizure, Long philtrum, Ankyloglossia, Intrauterine growth retardati... ORPHA:250989
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Upper limb undergrowth, Dysplasia of the f... ORPHA:94068
X-Linked Creatine Transporter Deficiency
Seizure, Self-mutilation, Hyperactivity, Ataxia, Athetosis ORPHA:52503
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Bowing of the long bones, Hydrocephalus, Postaxia... OMIM:611134
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy, Seizure ORPHA:397612
Cowden Syndrome 5
Hypoplasia of the maxilla, Colonic diverticula, Seizure, Furrowed tongue, Micrognathia, Narrow mo... OMIM:615108
Helsmoortel-Van Der Aa Syndrome
Small hand, Carious teeth, Ankyloglossia, Genu valgum, Polyphagia, Everted lower lip vermilion, D... OMIM:615873
13Q12.3 Microdeletion Syndrome
Intrauterine growth retardation, Malar flattening, Self-mutilation, Oligodontia, Thin upper lip v... ORPHA:412035
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity ORPHA:391307
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Generalized non-motor (absence) seizure, Seizure, Inability to walk, Bruxism, Tonic seizure, Repe... OMIM:300260
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope... ORPHA:352665
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, P... ORPHA:1106
Deafness-Craniofacial Syndrome
Abnormality of the dentition, Short lingual frenulum, Abnormal palate morphology, Bifid tongue, S... ORPHA:3241
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Rett Syndrome
Seizure, Difficulty walking, Bruxism, Inability to walk, Stereotypical hand wringing, Gait distur... ORPHA:778
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Seizure, Protruding tongue, Submucous cleft hard palate, Thick vermilion border,... OMIM:618106
Ring Chromosome 22 Syndrome
Inappropriate behavior, Seizure, Protruding tongue, 2-3 toe syndactyly, Thick vermilion border ORPHA:1446
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Mi... OMIM:600920
Stolerman Neurodevelopmental Syndrome
Bifid uvula, Abnormality of the dentition, Wide mouth, Hyperactivity, Thick vermilion border, Cli... OMIM:618505
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Infantile spasms, Hair-pulling, Aggressive behavior, Generalize... OMIM:616393
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Seizure, Protruding tongue, Abnormal thumb morphology, Smooth philtrum, Everted lower lip vermili... ORPHA:324410
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Finger syndactyly, Micrognathia, Abnormal metacarpal morphology, Holo... ORPHA:818
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Meningocele, Glossoptosis, Seizure ORPHA:2031
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Dysmetria, Aggressive behavior, Attention deficit hyperactivity disorder, Scissor gait, Spastic g... OMIM:619121
Orofaciodigital Syndrome X
Finger aplasia, Retrognathia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal b... OMIM:165590
Intellectual Developmental Disorder, Autosomal Dominant 73
Ankyloglossia, Cleft soft palate, Everted lower lip vermilion, High palate, U-Shaped upper lip ve... OMIM:620450
Cowden Syndrome 6
Hypoplasia of the maxilla, Colonic diverticula, Seizure, Furrowed tongue, Micrognathia, Narrow mo... OMIM:615109
Histidinemia
Hyperactivity ORPHA:2157
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Tongue atrophy, Hammertoe OMIM:601596
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Cutaneous finger syndactyly, Micrognathia, Humeroradial synostosi... OMIM:151050
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Short hallux, High palate, Short metacar... OMIM:268305
Juvenile Sialidosis Type 2
Seizure, Umbilical hernia, Gingival overgrowth, Myoclonus, Protruding tongue, Dysphagia, Generali... ORPHA:93399
Lelis Syndrome
Hypodontia, Carious teeth, Mandibular prognathia, Furrowed tongue ORPHA:140936
Hallermann-Streiff Syndrome
Thin ribs, High, narrow palate, Narrow palate, Natal tooth, Slender long bone, Dental malocclusio... OMIM:234100
Ritscher-Schinzel Syndrome 4
Aggressive behavior, Dysphagia, Bilateral tonic-clonic seizure, Ataxia, Athetosis, Motor stereoty... OMIM:619435
Robinow Syndrome
Tooth malposition, Ankyloglossia, Marked delay in eruption of permanent teeth, Micrognathia, Synd... ORPHA:97360
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Dental malocclusion, Clinodactyly, Cleft lip, Downturned corners of mouth, Long phil... OMIM:616894
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Seizure, Gait ataxia, Self-mutilation, Hyperactivity, Motor stereotypy OMIM:300486
Distal Duplication 17Q
Seizure, Overlapping toe, Genu valgum, Micrognathia, Arachnodactyly, Thin upper lip vermilion, Ha... ORPHA:3379
Marshall-Smith Syndrome
Slender long bone, Retrognathia, Gingival overgrowth, Open mouth, Protruding tongue, Bowing of th... ORPHA:561
Autosomal Dominant Robinow Syndrome
Finger syndactyly, Elbow dislocation, Open bite, Micrognathia, Anodontia, Short palm, Hip disloca... ORPHA:3107
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Hydrocephalus, Cleft palate ORPHA:2736
22Q11.2 Duplication Syndrome
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Seizure ORPHA:1727
Okur-Chung Neurodevelopmental Syndrome
Broad hallux, Umbilical hernia, Frequent temper tantrums, Micrognathia, Recurrent hand flapping, ... OMIM:617062
Congenital Disorder Of Glycosylation, Type Iie
Retrognathia, Seizure, Overlapping fingers, Intrauterine growth retardation, Micrognathia, Narrow... OMIM:608779
Hallermann-Streiff Syndrome
High, narrow palate, Abnormality of the dentition, Rib exostoses, Small hand, Natal tooth, Microg... ORPHA:2108
Marshall-Smith Syndrome
Death in childhood, Irregular dentition, Prominence of the premaxilla, Bullet-shaped middle phala... OMIM:602535
Joubert Syndrome 1
Postaxial foot polydactyly, Clinodactyly, Hemifacial spasm, Occipital myelomeningocele, Triangula... OMIM:213300
Hereditary Folate Malabsorption
Glossitis, Cheilitis, Seizure, Anorexia ORPHA:90045
Distal Deletion 15Q
2-3 toe cutaneous syndactyly, Short distal phalanx of finger, Small hand, Abnormality of the dent... ORPHA:1596
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Ankyloglossia, Cleft soft palate, Open mouth, High, narrow palate, Prominent fingertip pads, Down... OMIM:619950
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Xerostomia, Anorexia, Glossitis, Hamartomatous polyposis, Clubbing, C... OMIM:175500
Methylmalonic Acidemia With Homocystinuria Type Cblf
Seizure, Intrauterine growth retardation, Glossitis, Stomatitis, Cleft palate ORPHA:79284
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Gingival o... OMIM:619179
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Micrognathia, Narrow mouth, Aqueductal stenosis, High palate, Dislocated radial head, Motor stere... OMIM:619512
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Broad hallux, Cleft lip, Preaxial polydactyly, Hamartoma of tongu... OMIM:615948
Psoriasis 14, Pustular
Furrowed tongue, Oligoarthritis, Polyarticular arthritis, Geographic tongue OMIM:614204
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Seizure, Epiphyseal stippling, Micrognathia, Death in childhood, Malar flatt... OMIM:214100
Icf Syndrome
Umbilical hernia, Micrognathia, Protruding tongue, Macroglossia, Communicating hydrocephalus ORPHA:2268
Achondrogenesis, Type Ia
Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Bowing of the arm, Protruding tongu... OMIM:200600
Hereditary Acrokeratotic Poikiloderma
Gingival bleeding, Abnormality of the dentition, Xerostomia, Finger syndactyly, Oral leukoplakia,... ORPHA:2907
Monosomy 9Q22.3
Delayed eruption of teeth, Abnormal rib morphology, Seizure, Long philtrum, Umbilical hernia, Nar... ORPHA:77301
Rabson-Mendenhall Syndrome
Abnormality of the dentition, Polydipsia, Dental crowding, Furrowed tongue, Intrauterine growth r... ORPHA:769
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ... OMIM:300963
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Micrognathia, Protruding tongue, Malar flattening, Sinusitis, Macroglossia OMIM:242860
Cowden Syndrome 1
Hypoplasia of the maxilla, Colonic diverticula, Seizure, Furrowed tongue, Micrognathia, Narrow mo... OMIM:158350
Hartnup Disease
Gingivitis, Glossitis, Seizure ORPHA:2116
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Aplastic clavicle, Metaphyseal cupping, Abnormal epiphysis morphology, Nata... ORPHA:50945
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis ORPHA:2221
Early Infantile Epileptic Encephalopathy
Self-injurious behavior, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (withi... ORPHA:1934
47,Xyy Syndrome
Finger clinodactyly, Seizure, Malar flattening, Attention deficit hyperactivity disorder, Hyperac... ORPHA:8
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Saethre-Chotzen Syndrome
Lambdoidal craniosynostosis, Partial duplication of the distal phalanx of the 3rd finger, Coronal... OMIM:101400
Stickler Syndrome
Open bite, Genu valgum, Micrognathia, Arachnodactyly, Short hard palate, Hip dislocation, Protrus... ORPHA:828
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Seizure, Frequent temper tantrums, Attention deficit hyperactivity disorder, Motor ... OMIM:619103
Maternal Phenylketonuria
Clinodactyly, Seizure, Long philtrum, Intrauterine growth retardation, Micrognathia, Bifid distal... ORPHA:2209
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Tongue atrophy, Death in childhood, Ankle clonus, Dysphagia OMIM:211530
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Natal tooth, Clinodactyly, Occipital encephalocele, Micrognathia, Lar... OMIM:249000
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Microglossia, Narrow mouth, Mandibular aplasia ORPHA:990
Mend Syndrome
Asymmetry of the mouth, Broad hallux, Seizure, Overlapping toe, Overlapping fingers, Micrognathia... ORPHA:401973
Congenital Sialidosis Type 2
Seizure, Umbilical hernia, Gingival overgrowth, Myoclonus, Protruding tongue, Polydactyly, Hydroc... ORPHA:93400
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Tongue atrophy OMIM:620285
Spinocerebellar Ataxia 36
Tongue fasciculations, Dysphagia, Tongue atrophy OMIM:614153
Phocomelia, Schinzel Type
Finger aplasia, High, narrow palate, Radial bowing, Ectrodactyly, Aplasia/Hypoplasia involving th... ORPHA:2879
Neurodegeneration With Brain Iron Accumulation 2B
Seizure, Gait ataxia, Dysmetria, Hyperactivity, Dysphagia, Dysdiadochokinesis, Impulsivity OMIM:610217
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Generalized non-motor (absence) seizure, Seizure, Inability to walk, Inf... ORPHA:457351
Hereditary Mucoepithelial Dysplasia
Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth ORPHA:1839
Myopathy, Myofibrillar, 7
Elbow flexion contracture, Tongue atrophy, Shoulder flexion contracture, Dysphagia OMIM:617114
Distal Deletion 12Q
Overlapping toe, Micrognathia, Obsessive-compulsive trait, Duodenal atresia, High, narrow palate,... ORPHA:96149
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Seizure, Aggressive behavior, Attention deficit hyperactivity disorder, Gait di... OMIM:300352
Kleefstra Syndrome Due To 9Q34 Microdeletion
Downturned corners of mouth, Seizure, Generalized non-motor (absence) seizure, Epileptic spasm, P... ORPHA:96147
Kyphomelic Dysplasia
Radial bowing, Flared metaphysis, Cleft upper lip, Pterygium, Dumbbell-shaped humerus, Femoral bo... OMIM:211350
Down Syndrome
Narrow palate, Abnormality of the dentition, Macroglossia, Sandal gap, Seizure, Celiac disease, D... ORPHA:870
X-Linked Agammaglobulinemia
Glossoptosis, Arthritis, Sinusitis ORPHA:47
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Broad alveolar ridges, Cleft lip, Seizure, Furrowed tongue, Intrauterine growth retardation, Micr... OMIM:616975
Gm1-Gangliosidosis, Type Ii
Gingival overgrowth, Narrow mouth, Protruding tongue, Dysphagia, Generalized myoclonic seizure, C... OMIM:230600
Craniorachischisis
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anal atre... ORPHA:63260
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Seizure, Ataxia OMIM:620047
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Overlapping toe, Micrognathia, Holoprosencephaly, Hip dislocation, Sh... OMIM:270400
Leukocyte Adhesion Deficiency Type Ii
Seizure, Umbilical hernia, Intrauterine growth retardation, Overlapping toe, Gingival overgrowth,... ORPHA:99843
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Micrognathia, Aplasi... ORPHA:3472
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Clinodactyly, Genu valgum, Micrognathia, Open mouth, Protruding tongue, High palate, Widely-space... OMIM:309580
Meckel Syndrome
Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Preaxial hand polydactyly, Furrowed... ORPHA:564
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Infantile spasms, Hair-pulling, Dysphagia, Hyperactivity, Myoclonic spasms, Bilateral tonic-cloni... ORPHA:447997
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Infantile spasms, Wide mouth, Protruding tongue, Gingival overgrowth OMIM:618797
Rett Syndrome, Congenital Variant