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Gene: Rai1 MGI:103291

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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:
retinoic acid induced 1
Synonyms:
Gt1

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 Rai1 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 Rai1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Small for gestational age, Continuous spike and waves during slow sleep, EEG with centrotemporal ... OMIM:245570
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Polyphagia, Obesity ORPHA:329249
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... ORPHA:71526
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity, Hepatic steatosis, Polyphagia, Overgrowth OMIM:620195
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Hernández-Aguirre Negrete Syndrome
Seizure, Bulbous nose, Obesity, Delayed puberty, EEG abnormality ORPHA:2139
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Abnormality of the dentition, Short distal phalanx of finger, Dental malocclusion, Seizure, Hypop... ORPHA:1858
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Pat... OMIM:155050
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia, Hypertriglyceridemia OMIM:617885
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Broad nasal tip, Retrognathia, Inflexible adherence to routines, Failure... OMIM:613670
Camptodactyly Syndrome, Guadalajara Type 1
Toe syndactyly, Open bite, Narrow mouth, High palate, Short nose, Pectus carinatum, Downturned co... ORPHA:1327
17Q21.31 Microduplication Syndrome
Failure to thrive, Anteverted nares, Micrognathia, Attention deficit hyperactivity disorder, Dela... ORPHA:217340
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress... OMIM:614963
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Polyphagia, Hyperinsulinemia, Obesity ORPHA:369873
Intellectual Developmental Disorder, X-Linked 91
Obesity, Seizure, Short nose OMIM:300577
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276575
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Broad nasal tip, Seizure, Micrognathia, Thick vermilion border, Mild po... ORPHA:530983
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula... OMIM:275000
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul... ORPHA:276580
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Autism, Susceptibility To, X-Linked 6
Obesity, Underdeveloped nasal alae, Seizure OMIM:300872
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Prominent nose, Kyphoscoliosis, Aggressive behavior, Hallux valgus, Hyperact... OMIM:615541
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Flattened epiphysis, Dislocated radial head, High palate, Short me... OMIM:612350
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Cholestasis, Adrenal insufficiency, Obesit... OMIM:609734
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Anteverted nares, Micrognathia, Thin upper lip vermilion, Short ne... ORPHA:2015
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Pectus carinatum, Depression, Seizure, Anodontia, Oligodontia, Tapered finger, Everted lower lip ... ORPHA:276630
Intellectual Developmental Disorder, Autosomal Dominant 39
Wide nasal base, Wide nasal bridge, Generalized non-motor (absence) seizure, Obesity, Self-mutila... OMIM:616521
Mcdonough Syndrome
Mandibular prognathia, Dental malocclusion, Underdeveloped nasal alae, Open bite, Prominent nose,... ORPHA:2471
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, EEG with frontal focal spike waves, Focal hemiclonic seizure, EEG with... ORPHA:725
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Febrile seizure (within the age range of 3 months to 6 years), Epilept... ORPHA:289266
Landau-Kleffner Syndrome
Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Social and occupationa... ORPHA:98818
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Generalized non-motor (absence) seizure, Anteverted nares, Obesity, Stereotypical hand w... OMIM:619854
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Excessive insulin response to glucagon test, Large for gest... ORPHA:276556
Developmental And Epileptic Encephalopathy 59
Self-injurious behavior, Focal clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, B... OMIM:617904
Acromesomelic Dysplasia, Maroteaux Type
Acromesomelia, Depressed nasal bridge, Disproportionate short stature, Vertebral wedging, Abnorma... ORPHA:40
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Short distal phalanx of the thumb, Broad nasal tip, Broad thumb, ... ORPHA:370010
Epilepsy, Progressive Myoclonic, 6
Ataxia, Memory impairment, Generalized non-motor (absence) seizure, EEG with spike-wave complexes... OMIM:614018
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Seizure, Ataxia, Tongue atrophy, Kyphosis, Short ... OMIM:141300
Acromicric Dysplasia
Severe short stature, Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morpholog... ORPHA:969
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te... ORPHA:324575
Three M Syndrome 2
Thin ribs, Clinodactyly, Short neck, Prominent nasal tip, High palate, Short 5th finger, Pectus c... OMIM:612921
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Seizure, Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Seckel Syndrome 1
Ivory epiphyses, Postnatal growth retardation, Micrognathia, Dislocated radial head, High palate,... OMIM:210600
14Q11.2 Microduplication Syndrome
Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavior ORPHA:261229
11P15.4 Microduplication Syndrome
Aggressive behavior, Anteverted nares, Obesity, Seizure ORPHA:300305
Intellectual Developmental Disorder, X-Linked 82
EEG abnormality, Scoliosis, Kyphosis, Seizure OMIM:300518
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Talipes equinovarus, Motor stereotypy, Wide nose, Delayed skeletal maturation, ... OMIM:619293
Atelosteogenesis, Type I
Elbow dislocation, Radial bowing, Fibular aplasia, Micrognathia, Bell-shaped thorax, Neonatal dea... OMIM:108720
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo... OMIM:156530
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Joint hypermobility, Cognitive impairment, Convex nasal rid... ORPHA:1695
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Intrauterine growt... ORPHA:2370
Developmental And Epileptic Encephalopathy 73
Seizure, Delayed skeletal maturation, Narrow nasal bridge, Irritability, Hip dysplasia, Flexion c... OMIM:618379
Potocki-Lupski Syndrome
Mandibular prognathia, Dental malocclusion, Dental crowding, Seizure, Oral-pharyngeal dysphagia, ... OMIM:610883
Miller-Dieker Syndrome
Seizure, Anteverted nares, EEG abnormality, Ataxia, Growth delay, Short nose ORPHA:531
Alpha-Mannosidosis
Synostosis of joints, Depressed nasal bridge, Mandibular prognathia, Craniofacial hyperostosis, D... ORPHA:61
Muenke Syndrome
Coronal craniosynostosis, Broad thumb, Dental malocclusion, Clinodactyly, Seizure, Short middle p... OMIM:602849
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal dental morphology, Malar prominence, Micrognathia, Abnorma... ORPHA:2522
Christian Syndrome
Wide nasal bridge, Thoracic hemivertebrae, Prominent metopic ridge, Short stature, Scoliosis, Sho... OMIM:309620
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Hyperplasia of the maxilla, Chorea, EEG with spike-wave complexes, Gait ataxia, Myoclonus, EEG wi... OMIM:618587
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... ORPHA:171706
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Depressed nasal bridge, Hip dislocation, Small hand, Seizure, Bruxism, Talipes equinovarus, Hyper... OMIM:300434
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Micrognathia, Delayed puberty, Truncal obesity, Growth delay ORPHA:140941
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Wide nasal bridge, Focal impaired awareness seizure, Seizure, Febrile seizure (within the age ran... OMIM:620292
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short stature, Depressed nasal ridge, Anteverted nares, Short nose ORPHA:1355
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ... OMIM:619317
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Epilepsy, Progressive Myoclonic, 9
Microglossia, Generalized myoclonic seizure, Short thumb, Myoclonus, Gait ataxia, Bilateral tonic... OMIM:616540
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Small hand, Broad thumb, Postnatal growth retardation, Micrognathia, Narrow mouth, Emotional labi... ORPHA:251028
Maxillonasal Dysplasia
Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal bridge, Mandibular prognathia, ... ORPHA:1248
Pycnodysostosis
Small hand, Carious teeth, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, ... ORPHA:763
X-Linked Intellectual Disability, Stocco Dos Santos Type
Depressed nasal bridge, Seizure, Congenital bilateral hip dislocation, Talipes equinovarus, Hyper... ORPHA:85288
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, Obesity ORPHA:177910
Cdkl5-Deficiency Disorder
Broad proximal phalanges of the hand, Growth delay, Impaired pain sensation, Bruxism, Inappropria... ORPHA:505652
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell... OMIM:601820
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Seizure, Inability to walk, Short stature, Growth delay, Short nose ORPHA:438178
Yoon-Bellen Neurodevelopmental Syndrome
Infantile spasms, Hypsarrhythmia, Hip dysplasia, Bilateral tonic-clonic seizure, Ataxia, High pal... OMIM:619701
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Generalized Epilepsy With Febrile Seizures-Plus
Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-... ORPHA:36387
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Sh... OMIM:251450
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Broad thumb, Short 5th toe, Prom... OMIM:613684
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Large for gestational age, Truncal obesity, Increased... ORPHA:293964
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Baker-Gordon Syndrome
Self-injurious behavior, Joint hypermobility, Thin upper lip vermilion, Smooth philtrum, Prominen... OMIM:618218
Rhiny
Anteverted nares, Short nose OMIM:180360
Hall-Riggs Syndrome
Platyspondyly, Depressed nasal bridge, Seizure, Thick lower lip vermilion, Delayed skeletal matur... OMIM:234250
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Mental deterioration, Depression, Seizure, Confusion, Gait ataxia, Myoclonus, Emotional lability,... OMIM:615362
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the dentition, Pectus carinatum, Finger syndactyly, Delayed skeletal maturation, R... ORPHA:3268
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Developmental And Epileptic Encephalopathy 91
Myoclonic seizure, Seizure, Epileptic spasm, Micrognathia, Single transverse palmar crease, Talip... OMIM:617711
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Gait disturbance, Seizure ORPHA:436141
Developmental And Epileptic Encephalopathy 53
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsar... OMIM:617389
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Diabetes mellitus OMIM:222100
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Seizure, Gait disturbance, Truncal obesity, Mandibular prognathia, Short nose ORPHA:2429
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Pear-shap... OMIM:190350
Acrootoocular Syndrome
Wide nasal base, Micrognathia, Anodontia, Small thenar eminence, Short foot, Short metacarpal, Hi... ORPHA:2980
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Abnormal palate morphology, Abno... ORPHA:208441
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Wide nasal bridge, Growth delay, Downturned corners of mouth, Long philtrum, Seizure, Intrauterin... OMIM:617333
Ruvalcaba Syndrome
Small hand, Synostosis of carpal bones, Narrow mouth, Short metacarpal, Short nose, Abnormality o... ORPHA:3121
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Everted lower lip vermilion, High palate, Short nose, Anterior open-bite malocclusion, Pierre-Rob... OMIM:617877
Mehmo Syndrome
Broad nasal tip, Seizure, Difficulty walking, Inability to walk, Depressed nasal tip, Obesity, Ga... OMIM:300148
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... ORPHA:485
Intellectual Developmental Disorder, X-Linked 30
Prominent fingertip pads, Generalized non-motor (absence) seizure, Seizure, Thick upper lip vermi... OMIM:300558
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Depressed nasal bridge, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Thic... OMIM:619616
Intellectual Developmental Disorder, Autosomal Dominant 52
Open mouth, Obsessive-compulsive trait, Lumbar scoliosis, High palate, Motor stereotypy, Pectus c... OMIM:617796
Odontochondrodysplasia
Platyspondyly, Dentinogenesis imperfecta, Depressed nasal bridge, Narrow chest, Square pelvis bon... ORPHA:166272
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur... OMIM:619970
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Mental deterioration, Irritability, EEG abnormality, Bilateral tonic-clonic seizure, Restlessness... OMIM:610003
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Myoclonic seizure, EEG with generalized epileptiform discharges, Myoclonus,... OMIM:616187
Kbg Syndrome
Short neck, Widely-spaced maxillary central incisors, Delayed skeletal maturation, Oligodontia, T... ORPHA:2332
Foxg1 Syndrome
Bruxism, Infantile spasms, Myoclonus, Focal-onset seizure, Kyphoscoliosis, Stereotypical hand wri... ORPHA:561854
Burn-Mckeown Syndrome
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Short stature, Short nose ORPHA:1200
Harrod Syndrome
Abnormal pelvic girdle bone morphology, Dental malocclusion, Seizure, Abnormal shoulder morpholog... ORPHA:2115
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Micrognathia, Cleft soft palate, Short nose, Oligodontia, Thin upper l... OMIM:616331
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Seizure, Generalized-onset seizure, Bulbous nose, Micrognathia, Self-mutilation, Aggressive behav... OMIM:604317
Spondylometaphyseal Dysplasia, X-Linked
Wide nasal bridge, Depressed nasal bridge, Platyspondyly, Pectus carinatum, Severe short stature,... OMIM:313420
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Micrognathia, High palate, Motor stereotypy, Dysphagia, Short nose, Pain insensitivity, Self-inju... OMIM:617061
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Obesity, Type II diabe... ORPHA:254516
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Seizure, Obesity, Inappropriate laughter, Polyphagia, EEG abnormality, Hyperact... ORPHA:411515
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Underdeveloped nasal alae, Long philtrum, Bulbous nose, Micrognathia, Acetabular dysplasia, Cervi... OMIM:616549
Stxbp1-Related Encephalopathy
Ataxia, EEG with abnormally slow frequencies, Generalized myoclonic seizure, Focal impaired aware... ORPHA:599373
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Broad nasal tip, Dental malocclusion, Widely-spaced maxillary central... OMIM:619719
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Dental malocclusion, Anteverted nares, Gait ataxia, Long fingers, High palate, Mandibular prognat... OMIM:618292
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Fetal Akinesia Deformation Sequence 4
Wide nasal bridge, Retrognathia, 11 pairs of ribs, Micrognathia, Neonatal death, Short neck, Camp... OMIM:618393
Clark-Baraitser Syndrome
Depressed nasal bridge, Seizure, Anteverted nares, Obesity, Aggressive behavior, Hyperactivity, L... OMIM:617752
Rhizomelic Syndrome, Urbach Type
Limitation of joint mobility, Micrognathia, Short neck, Cognitive impairment, Abnormality of the ... ORPHA:3098
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Depressed nasal bridge, Seizure, Hyperextensibility of the finger joints, Intrauterine growth ret... ORPHA:488635
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Bulbous nose, Intrauterine growth retardation, Truncal obesity, Short stature ORPHA:261483
Larsen-Like Syndrome
Dental malocclusion, Joint dislocation, Delayed skeletal maturation, Radial deviation of the 4th ... OMIM:608545
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Focal clonic seizure, Epileptic spasm, Irritability, Tonic seizure, Hypsarrhyt... OMIM:615006
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Narrow mouth, Genu valgum, Intervertebral space narrowing, Radial head subluxation,... OMIM:614078
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... ORPHA:2345
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizur... OMIM:619964
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Seizure, Delayed skeletal maturation, Interictal EEG abnormality, Narrow nasal bridge, Infantile ... ORPHA:544503
Lennox-Gastaut Syndrome
Mental deterioration, EEG with focal sharp slow waves, Myoclonus, Focal-onset seizure, Irritabili... ORPHA:2382
Mitochondrial Complex I Deficiency, Nuclear Type 15
Intrauterine growth retardation, Irritability, Neonatal death, Dystonia, Bilateral tonic-clonic s... OMIM:618237
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Cachexia, Short nose, Short stature, Abnormality of visual evoked potentials ORPHA:1389
Pierpont Syndrome
Short neck, Everted lower lip vermilion, Short foot, Short nose, Wide nose, Broad nasal tip, Prom... OMIM:602342
Adenylosuccinate Lyase Deficiency
Anteverted nares, Seizure, Short nose ORPHA:46
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Generalized myoclonic seizure, Oculogyric crisis, Seizure, Delayed menarche, Focal-onset seizure,... ORPHA:330050
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Dental crowding, Retrognathia, Arthrogryposis multiplex congenita, Int... OMIM:617468
Horizontal Gaze Palsy With Progressive Scoliosis
Seizure, Short neck, Cognitive impairment, Scoliosis, Kyphosis ORPHA:2744
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Narrow palate, Pectus carinatum, Exaggerated median tongue furrow, Denta... ORPHA:313892
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Mental deterioration, Depression, Myoclonus, Status epilepticus without prominent motor symptoms,... OMIM:204300
Developmental And Epileptic Encephalopathy 43
Ataxia, Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hypsarrhyt... OMIM:617113
Developmental And Epileptic Encephalopathy 63
Myoclonic seizure, EEG with generalized epileptiform discharges, Long philtrum, Seizure, Generali... OMIM:617976
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Pectus carinatum, Decreased motor nerve conduction velocity, Seizure, Postnatal growth retardatio... OMIM:615419
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Depression, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Dementia OMIM:162350
Cleft Palate, Isolated
Seizure, Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, ... OMIM:119540
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intrauterine growth retardation, Obesity, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... OMIM:269250
Spastic Paraplegia 18B, Autosomal Recessive
Seizure, Ankle clonus, Joint contracture, High palate, Scoliosis, Kyphosis OMIM:611225
Rafiq Syndrome
Wide nasal bridge, Seizure, Bulbous nose, Prominent nose, Obesity, Underdeveloped nasolabial fold... OMIM:614202
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Infantile spasms, Paresthesia, Focal-onset seizure, Simple febrile se... ORPHA:98820
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Tall stature, ... OMIM:300942
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Emotional lability, Aggressive behavior, EEG abnormality, Bilateral tonic-clonic seizure, Motor s... OMIM:617171
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Ck Syndrome
Dental crowding, Retrognathia, Seizure, Micrognathia, Prominent nasal bridge, Malar flattening, I... OMIM:300831
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Micrognathia, Narrow mouth, Joint contracture of the 5th finger, N... ORPHA:352490
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ... OMIM:144750
Intellectual Developmental Disorder, Autosomal Recessive 74
Wide nasal bridge, Seizure, Prominent nose, EEG with polyspike wave complexes, Hyperactivity, Man... OMIM:617169
Zimmermann-Laband Syndrome 3
Wide nasal bridge, Bifid uvula, Short distal phalanx of finger, Broad nasal tip, Aplasia of the d... OMIM:618658
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Anteverted nares, Micr... OMIM:614524
Developmental And Epileptic Encephalopathy 23
Broad nasal tip, Atonic seizure, Bulbous nose, Anteverted nares, Prominent nasal bridge, Infantil... OMIM:615859
Cri-Du-Chat Syndrome
Overfriendliness, Short neck, High palate, Motor stereotypy, Short metacarpal, Anterior open-bite... OMIM:123450
Sclerosteosis 1
Wide nasal bridge, Depressed nasal bridge, Tooth malposition, Broad clavicles, Dental malocclusio... OMIM:269500
3P25.3 Microdeletion Syndrome
Broad thumb, Overlapping toe, Micrognathia, 2-3 finger syndactyly, Ataxia, Motor stereotypy, High... ORPHA:435638
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Anteverted nares, Micrognath... ORPHA:1832
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Dental malocclusion, Broad columella, Underdeveloped nasal... ORPHA:436245
Lessel-Kreienkamp Syndrome
Wide nasal bridge, Dental malocclusion, Seizure, Open mouth, Thin upper lip vermilion, Aggressive... OMIM:619149
Distal Duplication 18Q
Progressive intervertebral space narrowing, Choanal atresia, Carious teeth, Deviation of finger, ... ORPHA:1716
Acromicric Dysplasia
Severe short stature, Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtrum, Th... OMIM:102370
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Osteopathia striata, Genu valgum, Apl... ORPHA:93357
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Developmental And Epileptic Encephalopathy 41
Myoclonic seizure, Delayed eruption of teeth, Epileptic spasm, Kyphoscoliosis, Status epilepticus... OMIM:617105
Peho-Like Syndrome
Retrognathia, Myoclonus, Open mouth, Hypsarrhythmia, Bilateral tonic-clonic seizure, Status epile... OMIM:617507
Diabetes Insipidus, Neurohypophyseal
Short nose, Wide nose OMIM:125700
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Mental deterioration, Somatic sensory dysfunction, Pseudobulbar paralysis, Localized osteoporosis... ORPHA:199354
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Toe syndactyly, Broad thumb, Broad hallux, Underdeveloped nasal a... OMIM:184460
Intellectual Developmental Disorder, Autosomal Dominant 1
Postnatal growth retardation, Micrognathia, Open mouth, Polyphagia, Everted lower lip vermilion, ... OMIM:156200
Intellectual Developmental Disorder, Autosomal Recessive 13
Wide nasal bridge, Seizure, Bruxism, Recurrent hand flapping, Hyperactivity, Truncal obesity OMIM:613192
Metatropic Dysplasia
Severe short stature, Depressed nasal bridge, Narrow chest, Hypoplastic cervical vertebrae, Abnor... ORPHA:2635
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Ge... ORPHA:2831
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Seizure, Inflexible adherence to routines, EEG abnormality, Bilateral tonic... OMIM:608636
Frontometaphyseal Dysplasia
Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Micrognathia, Limi... ORPHA:1826
Acrodysostosis 1 With Or Without Hormone Resistance
Long hallux, Narrow vertebral interpedicular distance, Dislocated radial head, Short metacarpal, ... OMIM:101800
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Micrognathia, Genu valgum, Hip contracture, Flattened epiphysis, Advanced ossifica... OMIM:618363
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Narrow chest, Coarse metaphyseal trabecularization, Thoracic platyspondyl... OMIM:618961
Acrodysostosis
Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol... ORPHA:950
Craniosynostosis 3
Dental malocclusion, Bicoronal synostosis, Single transverse palmar crease, Hallux valgus, Sagitt... OMIM:615314
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Brachydactyly, Short stature, Abnormal sacrum morphology, Scoliosis, Shor... ORPHA:1436
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Abnormal bone ossification, Flattened epiphysis, High palate, Flat acet... ORPHA:163649
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Seizure, Inability to walk, Obesity, Ataxia, Short stature, Generalized myoclon... OMIM:616756
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D... OMIM:311300
Intermediate Osteopetrosis
Abnormality of the dentition, Erlenmeyer flask deformity of the femurs, Dental malocclusion, Sand... ORPHA:210110
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Failure to thrive, Decreased body weight OMIM:620085
Pde4D Haploinsufficiency Syndrome
Postnatal growth retardation, Micrognathia, Prominent nasal tip, Broad phalanx, Bilateral coxa va... ORPHA:439822
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Seizure, Myoclonus, EEG with polyspike wave complexes, Tremor, E... OMIM:615127
Epilepsy, Progressive Myoclonic, 8
Progressive neurologic deterioration, Action myoclonus, Limb ataxia, Myoclonus, EEG with photopar... OMIM:616230
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Nar... OMIM:228520
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Short neck, Cognitive impairment, Everted lower lip vermilion, Sho... ORPHA:915
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Postnatal growth retardation, Bell-shaped thorax, Short neck, Fl... OMIM:613320
Myopathy, Myofibrillar, 8
Dental malocclusion, Micrognathia, Joint contracture of the 5th finger, Joint hypermobility, Achi... OMIM:617258
Kohlschutter-Tonz Syndrome
Myoclonic seizure, Seizure, Amelogenesis imperfecta, Enamel hypoplasia, Hypsarrhythmia, Bilateral... OMIM:226750
Parastremmatic Dwarfism
Severe short stature, Genu valgum, Bowing of the long bones, Short neck, Flexion contracture, Sco... OMIM:168400
Chromosome 3Q29 Duplication Syndrome
Wide nasal bridge, Bulbous nose, Obesity, Short nose OMIM:611936
Verheij Syndrome
Wide nasal bridge, Short 5th finger, Broad nasal tip, Growth delay, Retrognathia, Long philtrum, ... OMIM:615583
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Mucopolysaccharidosis Type 4
Carious teeth, Genu valgum, Bowing of the long bones, Short neck, Cognitive impairment, Pectus ca... ORPHA:582
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Micrognathia, Radioulnar synostosis, Talipes equinovarus, Spreng... ORPHA:1988
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Short neck, Flat acetabular roo... OMIM:271700
Intellectual Developmental Disorder, Autosomal Dominant 23
Wide nasal bridge, Depressed nasal bridge, Broad distal phalanx of finger, Dental crowding, Downt... OMIM:615761
Ruvalcaba Syndrome
Narrow chest, Small hand, Dental crowding, Micromelia, Underdeveloped nasal alae, Narrow nose, Li... OMIM:180870
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Depression, Generalized non-motor (absence) seizure, Seizure, Chorea, In... ORPHA:485350
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Seizure, Bilateral single transverse palmar creases, Ataxia, Progressive neurologic deterioration... ORPHA:85317
Myoclonic Epilepsy Of Unverricht And Lundborg
Mental deterioration, Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myo... OMIM:254800
Intellectual Disability, Buenos-Aires Type
Wide nasal bridge, Pectus carinatum, Cuboid-shaped thoracolumbar vertebral bodies, Abnormal pelvi... ORPHA:3079
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Short stature, Aggressive behavior, Attention deficit hyperactivity disorder, Bilateral tonic-clo... OMIM:619639
Dravet Syndrome
Mental deterioration, Myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Genera... OMIM:607208
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoinsulinemia, Large for gestational age, Obesity, Truncal obesity OMIM:240900
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Micrognathia, High palate, Motor stereotypy, Short nose, Eruption failure, Attention deficit hype... ORPHA:476126
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Broad thumb, Micrognathia, Short neck, Torticollis, Bilateral talipes equinovarus, Long nose, Hig... OMIM:620224
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Wide nasal bridge, Myoclonic seizure, Broad nasal tip, Seizure, Inability to walk, Bruxism, Bilat... OMIM:615716
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Postnatal growth retardation, Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies... OMIM:608940
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Hallermann-Streiff Syndrome
Thin ribs, Natal tooth, Micrognathia, Narrow mouth, Everted lower lip vermilion, High palate, Cho... OMIM:234100
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hand clenching, Arthrogryposis multiplex congenita, Retrognathia, Seizure, Micrognathia, Single t... OMIM:611890
Schaaf-Yang Syndrome
Hypogonadism, Failure to thrive in infancy, Obesity, Polyphagia, Skin-picking, Camptodactyly, Fle... OMIM:615547
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Epileptic spasm, Anteverted nares, Bruxism, Myoclonus, Stereotypical ... OMIM:618497
Congenital Disorder Of Glycosylation, Type Iaa
Pseudobulbar paralysis, Intrauterine growth retardation, Bilateral tonic-clonic seizure, Scoliosi... OMIM:617082
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm... ORPHA:628
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG with photo... OMIM:613608
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity, Recurrent sinusitis OMIM:300310
Malignant Migrating Focal Seizures Of Infancy
Myoclonic seizure, Focal impaired awareness seizure, Epileptic spasm, Focal hemiclonic seizure, H... ORPHA:293181
Chung-Jansen Syndrome
Anteverted nares, Micrognathia, Obesity, Impulsivity, Attention deficit hyperactivity disorder, A... OMIM:617991
Otopalatodigital Syndrome Type 1
Wide nasal bridge, Depressed nasal bridge, Short distal phalanx of finger, Limitation of joint mo... ORPHA:90650
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Pectus carinatum, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis,... OMIM:271530
Developmental And Epileptic Encephalopathy 66
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Myoclonic seizure, Downtur... OMIM:618067
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
6Q16 Microdeletion Syndrome
Depressed nasal bridge, Broad-based gait, Abnormal temper tantrums, Retrognathia, Bulbous nose, A... ORPHA:171829
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Dental malocclusion, Contractures of the large joints, EEG with burst suppression, Mi... ORPHA:329178
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Retrognathia, Clinodactyly, Widely spaced teeth, Gait ataxia, Myoclonus, Tremo... OMIM:619092
Mulibrey Nanism
Wide nasal bridge, Depressed nasal bridge, Microglossia, Dental malocclusion, Dental crowding, In... OMIM:253250
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Pectus carinatum, Narrow mouth, Attention deficit hyperactivity disorder, Ataxia, Short stature, ... OMIM:620007
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Leukodystrophy, Hypomyelinating, 17
Growth delay, Seizure, Widely spaced teeth, Anteverted nares, Gingival overgrowth, Kyphoscoliosis... OMIM:618006
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... ORPHA:457395
Acrocephalopolydactyly
Genu recurvatum, Depressed nasal ridge, Thoracic hypoplasia, Short neck, Limb undergrowth, Brachy... ORPHA:221054
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Cervical ribs, Absent radius, Tibial torsion, Fibular aplasia, Mi... ORPHA:3320
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar... ORPHA:363417
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Clinodactyly, Micrognathia, Narrow mouth, Short neck, Short nose, Wide nose, Slender finger, Down... ORPHA:391408
11Q22.2Q22.3 Microdeletion Syndrome
Depressed nasal bridge, Seizure, Obesity, Micrognathia, Attention deficit hyperactivity disorder,... ORPHA:444002
Intellectual Developmental Disorder, X-Linked 107
Seizure, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, M... OMIM:301013
Ritscher-Schinzel Syndrome 4
Narrow palm, Ataxia, High palate, Motor stereotypy, Hip dislocation, Dysphagia, Chorea, Limited k... OMIM:619435
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Depression, Generalized non-motor (absence) ... OMIM:618873
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose ORPHA:1450
Developmental And Epileptic Encephalopathy 98
EEG with burst suppression, Refractory status epilepticus, Focal-onset seizure, Attention deficit... OMIM:619605
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Short toe, Seizure, Cervical spinal canal sten... OMIM:301900
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Pursed lips, Postnatal growth retardation, Narrow mouth, Hip contr... OMIM:193700
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Intellectual Developmental Disorder, X-Linked 98
Bulimia, Postnatal growth retardation, Hypsarrhythmia, Self-biting, Ataxia, Long nose, Motor ster... OMIM:300912
Polymicrogyria, Bilateral Temporooccipital
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Aggressive beh... OMIM:612691
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder OMIM:620439
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Micrognathia, Narrow mouth, Patellar aplasia, Dysplastic patella, Arachnod... OMIM:265000
Rasmussen Subacute Encephalitis
Hemidystonia, Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Cognitiv... ORPHA:1929
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Choanal atresia, Short distal phalanx of finger, Seizure, Punctate verteb... ORPHA:1914
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Broad thumb, Limitation of joint mobility, Interphalangeal joint contracture of ... OMIM:151200
Glycosylphosphatidylinositol Biosynthesis Defect 15
Osteopenia, Myoclonic seizure, Generalized non-motor (absence) seizure, Anteverted nares, Gait at... OMIM:617810
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Anteverted nares, Obesity, Intrauterine growth retardation, Hyperactivity... OMIM:614613
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Depressed nasal ridge, Platyspondyly, Rhizomelia, Metaphyseal cupping of metacarpals, ... OMIM:300863
Schwartz-Jampel Syndrome
Elbow dislocation, Pursed lips, Micrognathia, Narrow mouth, Genu valgum, Hip contracture, Bowing ... ORPHA:800
Wilson-Turner Syndrome
Broad nasal tip, Seizure, Micrognathia, Truncal obesity, Short stature ORPHA:3459
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Congenital Disorder Of Glycosylation, Type Iiy
Delayed skeletal maturation, Reduced bone mineral density, Bilateral tonic-clonic seizure, Hip su... OMIM:620200
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Depressed nasal bridge, Broad nasal tip, Seizure, Oral-pharyngeal dysphagia, Bulbous nose, Anteve... ORPHA:480907
Van Maldergem Syndrome 1
Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Talipes equinovarus... OMIM:601390
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Short distal phalanx of finger, Diastema, Bulbous nose, Infantile spasms, Bilateral tonic-clonic ... OMIM:618470
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Dental malocclusion, Joint hypermobility, Brachydactyly, Ataxia OMIM:619692
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Seizure, Focal EEG discharges w... ORPHA:3077
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ... OMIM:616583
Clark-Baraitser syndrome
Genu recurvatum, Broad nasal tip, Exaggerated median tongue furrow, Widely-spaced maxillary centr... OMIM:300602
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Hypoplasia of the maxilla, Decreased motor nerve conduction velocity, Seizure,... OMIM:218000
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Bardet-Biedl Syndrome 10
Obesity, Seizure OMIM:615987
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, A... OMIM:113000
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Narrow mout... OMIM:257850
Mitochondrial Myopathy And Sideroblastic Anemia
Long philtrum, Micrognathia, Delayed puberty, High palate, Scoliosis, Kyphosis, Short nose ORPHA:2598
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Seizure, Intrauterine growth retardation, Micrognathia, Short stature, Growth delay, Short nose ORPHA:1495
Myoclonic Epilepsy Of Infancy
Mental deterioration, EEG with irregular generalized spike and wave complexes, Generalized non-mo... ORPHA:86909
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Clinodactyly, Long philtrum, Seizure, Anteverted nares, Micrognathia, Unilambd... OMIM:618577
Huntington Disease
Decreased body mass index, Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcoho... ORPHA:399
Smith-Magenis Syndrome
Toe syndactyly, Micrognathia, Open mouth, Delayed eruption of primary teeth, Motor stereotypy, Sh... ORPHA:819
Oliver Syndrome
Postaxial foot polydactyly, Dental malocclusion, Prominent fingertip pads, Short toe, Camptodacty... ORPHA:2920
Codas Syndrome
Depressed nasal bridge, Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnor... ORPHA:1458
Epiphyseal Dysplasia, Multiple, 1
Delayed epiphyseal ossification, Hip osteoarthritis, Severe short stature, Epiphyseal dysplasia, ... OMIM:132400
Developmental And Epileptic Encephalopathy 27
Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Hypsarrhythmia,... OMIM:616139
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Micrognathia, Narrow mouth, ... OMIM:617201
Intellectual Developmental Disorder, Autosomal Recessive 46
Self-injurious behavior, Growth delay, Seizure, Large for gestational age, Aggressive behavior, A... OMIM:616116
Cornelia De Lange Syndrome 2
Small hand, Downturned corners of mouth, Seizure, Clinodactyly, Postnatal growth retardation, Ant... OMIM:300590
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal... OMIM:223800
Foxp1 Syndrome
Recurrent upper respiratory tract infections, Broad nasal tip, Retrognathia, Seizure, Failure to ... ORPHA:391372
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scoliosis, Cleft ... OMIM:214300
Epilepsy, Nocturnal Frontal Lobe, 2
Aggressive behavior, Depression, Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Intellectual Developmental Disorder, X-Linked 21
Seizure, Hyperactivity, Short nose, Mandibular prognathia, Impulsivity OMIM:300143
Microduplication Xp11.22P11.23 Syndrome
Obesity, EEG with centrotemporal focal spike waves, Seizure ORPHA:217377
Acromesomelic Dysplasia 1
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... OMIM:602875
Intellectual Developmental Disorder With Autism And Macrocephaly
Wide nasal bridge, Seizure, Tall stature, Recurrent hand flapping, Pica, Overweight, Wide nose OMIM:615032
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:617831
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Head tremor, Hypsarrhythmia, Ataxia, Atypical absence seizure, Motor stereotypy, Hip dislocation,... OMIM:619428
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Myoclonus, Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Focal hem... OMIM:608105
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Mandibular osteomyelitis, Dental malocclusion, Periapical bone loss... ORPHA:83451
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic nasal bridge, Hypoplastic scapulae, Abnormal femoral met... OMIM:200600
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Depressed nasal bridge, Broad nasal tip, Seizure, Anteverted nares, Obes... OMIM:600430
Epilepsy, Familial Temporal Lobe, 5
EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aw... OMIM:614417
Cortisone Reductase Deficiency 2
Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature... OMIM:614662
Ck Syndrome
Microretrognathia, Dental crowding, Seizure, Lumbar hyperlordosis, Prominent nasal bridge, Malar ... ORPHA:251383
Kyphomelic Dysplasia
Narrow chest, Disproportionate short stature, Limitation of joint mobility, Abnormal form of the ... ORPHA:1801
Bardet-Biedl Syndrome 9
Polyphagia, Obesity, Polydipsia, Truncal obesity OMIM:615986
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Aggressive behavior, Attenti... OMIM:619157
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor, Bilateral tonic-clonic seizure OMIM:617863
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hand tremor, Recurrent hand flapping, Gait ataxia, Dysphagia, Bilateral tonic-clonic seizure, Sho... OMIM:617862
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Seizure, Prominent nose, Prominent nasal bridge, Bilateral tonic-clonic seizure, Ataxia OMIM:620317
Zimmermann-Laband Syndrome
Bifid uvula, Growth delay, Seizure, Overtubulated long bones, Bulbous nose, Micrognathia, Wide mo... ORPHA:3473
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Intrauterine growth retardation, Micrognathia, Malar flattening, C... ORPHA:2145
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Umbilical hernia, Tall stature, Hyperinsulinemia, Hepatic steatosis, Splenome... OMIM:608594
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu... OMIM:271510
Beta-Mercaptolactate Cysteine Disulfiduria
Seizure, Anteverted nares, Obesity, EEG abnormality, Convex nasal ridge, Short stature ORPHA:1035
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Finger joint contracture, Malar prominence, Chorea, Paresthesia, Micrognathia, Abnormality of per... ORPHA:48431
Atypical Rett Syndrome
Small hand, Short foot, Neonatal seizure, Limb myoclonus, Infantile spasms, Stereotypical hand wr... ORPHA:3095
Developmental And Epileptic Encephalopathy 28
Hand clenching, Long philtrum, Generalized non-motor (absence) seizure, Seizure, Focal clonic sei... OMIM:616211
Crisponi Syndrome
Limitation of joint mobility, Long philtrum, Seizure, Flexion contracture, Camptodactyly of finge... ORPHA:1545
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Depressed nasal bridge, Small hand, Sandal gap, Seizure, Thick lower lip vermilion, Bulbous nose,... OMIM:300354
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ... OMIM:184260
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... ORPHA:477781
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flattened epiphy... OMIM:300232
Momo Syndrome
Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip v... ORPHA:2563
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Depressed nasal ridge, Platyspondyly, Rhizomelia, Metaphyseal cupping of metacarpals, ... ORPHA:163966
Takenouchi-Kosaki Syndrome
Wide nasal bridge, Flared nostrils, Dental malocclusion, Downturned corners of mouth, Long philtr... OMIM:616737
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Thick l... OMIM:619000
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Downturned corners of mouth, Seizure, Sandal gap, Bulbous nose, Open mout... OMIM:618430
Van Maldergem Syndrome 2
Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Talipes equinovarus... OMIM:615546
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Clinodactyly, Open mouth, Overfriendliness, Short neck, Ataxia, High palate, Restlessness, Short ... ORPHA:369891
Intellectual Developmental Disorder, Autosomal Dominant 26
Wide nasal bridge, Depressed nasal bridge, Arthrogryposis multiplex congenita, Anteverted nares, ... OMIM:615834
Myoclonic-Astatic Epilepsy
Abnormal emotion, Bilateral tonic-clonic seizure with generalized onset, EEG with generalized slo... ORPHA:1942
Shashi-Pena Syndrome
Broad nasal tip, Retrognathia, Seizure, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:617190
Orofaciodigital Syndrome Xi
Wide nasal bridge, Hypoplasia of the odontoid process, Seizure, Bulbous nose, Kyphoscoliosis, Pos... OMIM:612913
Late Infantile Neuronal Ceroid Lipofuscinosis
Mental deterioration, Abnormal amplitude of flash visual evoked potentials, Obsessive-compulsive ... ORPHA:168491
4Q21 Microdeletion Syndrome
Self-injurious behavior, Depressed nasal bridge, Abnormality of the dentition, Small hand, Growth... ORPHA:238750
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Status epi... OMIM:620537
Developmental And Epileptic Encephalopathy 31A
Self-injurious behavior, Myoclonic seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilat... OMIM:616346
Potocki-Shaffer Syndrome
Wide nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Seizure, Single transv... OMIM:601224
Harel-Yoon Syndrome
Pectus carinatum, Generalized non-motor (absence) seizure, Micrognathia, Hip dysplasia, Ataxia, D... OMIM:617183
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Broad nasal tip, Retrognathia, Generalized non-motor (absence) seizure, ... OMIM:615637
Achondrogenesis Type 1B
Severe short stature, Narrow chest, Disproportionate short stature, Short thorax, Long philtrum, ... ORPHA:93298
Developmental And Epileptic Encephalopathy 103
Ataxia, Myoclonic seizure, Continuous spike and waves during slow sleep, Generalized non-motor (a... OMIM:619913
3M Syndrome
Thin ribs, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Abnormality of the elbow,... ORPHA:2616
Frank-Ter Haar Syndrome
Delayed cranial suture closure, Micrognathia, Anterior concavity of thoracic vertebrae, Bowing of... OMIM:249420
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Thick upper lip vermilion, Postnatal growth retardation, Hypopla... OMIM:611717
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Postnatal growth retar... ORPHA:79345
Faciodigitogenital Syndrome, Autosomal Recessive
High palate, Short foot, Short nose, Syndactyly, Abnormal rib cage morphology, Proportionate shor... OMIM:227330
Aarskog-Scott Syndrome
Cervical spine hypermobility, Hypoplasia of the odontoid process, Clinodactyly, Short neck, Short... OMIM:305400
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Choanal atresia, Retrognathia, Butterfly vertebrae, Submucous cleft hard palate, Attention defici... OMIM:619227
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular... OMIM:614669
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Open mouth, Ataxia, High palate, Short nose, Osteopenia, Downturned ... OMIM:615398
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Micrognathia, Short neck, Short nose, Syndactyly, Cleft lip, Downturne... OMIM:616894
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Broad thumb, Arachnodactyly, Ataxia, High palate, Thoracic kyphoscoliosis, Hip dislocation, Pectu... ORPHA:481152
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Talipes equinovarus, Short neck, Fused thoracic vertebrae, Antecubital ptery... OMIM:618469
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Short stature, Obesity, Seizure ORPHA:3055
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnodactyly, Talipe... OMIM:300373
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Recurrent hand flapping, Focal hemiclonic seizure, Tonic... OMIM:618141
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Robinow Syndrome
Flared nostrils, Tooth malposition, Ankyloglossia, Micrognathia, Marked delay in eruption of perm... ORPHA:97360
Intellectual Developmental Disorder, Autosomal Recessive 44
Bifid uvula, Depressed nasal bridge, Long philtrum, Anteverted nares, Bilateral tonic-clonic seiz... OMIM:615942
Dermotrichic Syndrome
Depressed nasal bridge, Seizure, Proportionate short stature, EEG abnormality, Short nose ORPHA:99688
Autosomal Dominant Epilepsy With Auditory Features
Focal autonomic seizure, Depression, Generalized-onset seizure, Bilateral tonic-clonic seizure wi... ORPHA:101046
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Dentinogenesis imperfecta, Pectus carinatum, Disproportionate short-limb short sta... OMIM:259440
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Depression, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder,... OMIM:619191
Weiss-Kruszka Syndrome
Exaggerated cupid's bow, Single transverse palmar crease, Prominent nasal tip, Clinodactyly of th... ORPHA:502430
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Seizure, Thoracic hemivertebrae, Abnormal thorax morphology, Narrow pal... ORPHA:1445
Joubert Syndrome 10
Wide nasal bridge, Obesity, Frequent temper tantrums, Dysmetria, Decreased body weight, Polyphagi... OMIM:300804
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Short nec... OMIM:271665
Unilateral Focal Polymicrogyria
Mental deterioration, EEG with frontal focal spikes, Memory impairment, Focal impaired awareness ... ORPHA:268947
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Pectus carinatum, Myoclonic seizure, Broad columella, Long philtrum, Delayed c... OMIM:619383
Mosaic Trisomy 14
Wide nasal bridge, Narrow chest, Seizure, Camptodactyly of finger, Anteverted nares, Micrognathia... ORPHA:1703
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, In... OMIM:615400
Coffin-Lowry Syndrome
Thick nasal septum, Open mouth, Everted lower lip vermilion, High palate, Short metacarpal, Short... OMIM:303600
Autosomal Dominant Spondylocostal Dysostosis
Wide nasal bridge, Severe short stature, Short thorax, Anteverted nares, Intrauterine growth reta... ORPHA:1797
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Underdeveloped nasal alae, Widely spaced teeth, Malar flattening, Short stature OMIM:616108
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Chopra-Amiel-Gordon Syndrome
Flared nostrils, Cleft lip, Seizure, Delayed skeletal maturation, Thick nasal alae, Postnatal gro... OMIM:619504
Spinocerebellar Ataxia 48
Mental deterioration, Depression, Chorea, Gait ataxia, Dysmetria, Irritability, Tremor, Bilateral... OMIM:618093
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Hip dislocation, Absent pubertal growth spurt, Kyphosis, Downturned corners of mouth, Seizure, Fo... ORPHA:464282
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Obesity OMIM:300209
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Hypoplasia of the odontoid process, Postaxial foo... ORPHA:508533
Developmental And Epileptic Encephalopathy 42
Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, EEG abnormality, Focal t... OMIM:617106
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h... OMIM:616007
Frank-Ter Haar Syndrome
Wide nasal bridge, Depressed nasal bridge, Genu recurvatum, Delayed eruption of teeth, Osteolysis... ORPHA:137834
Achondrogenesis Type 1A
Severe short stature, Narrow chest, Abnormal enchondral ossification, Long philtrum, Micromelia, ... ORPHA:93299
Developmental Delay With Or Without Epilepsy
Ataxia, EEG with frontal focal spikes, Myoclonic seizure, Generalized non-motor (absence) seizure... OMIM:620540
Developmental And Epileptic Encephalopathy 100
Small hand, Micrognathia, Protruding tongue, High palate, Motor stereotypy, Choreoathetosis, Dysp... OMIM:619777
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia ORPHA:22
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Short nec... OMIM:253000
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Stereotypical hand wringing, Hypsarrhythmia, ... OMIM:616056
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral triphalangeal thumbs, Short distal phalanx of finger, Head-banging, Anteverted nares, M... OMIM:619356
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Delayed skeletal maturation, Thick lower lip vermilion, Anteverted nares, Abnormal... ORPHA:2701
Developmental And Epileptic Encephalopathy 95
Ataxia, Long nose, Pectus carinatum, Multiple joint contractures, Focal-onset seizure, Brachydact... OMIM:618143
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Short stature, Obesity OMIM:619058
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Widely spaced teeth, E... OMIM:135100
Progressive Myoclonic Epilepsy Type 3
Limb myoclonus, Focal myoclonic seizure, Progressive psychomotor deterioration, Progressive trunc... ORPHA:263516
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Wide nasal bridge, Obesity, Generalized myoclonic seizure, Seizure ORPHA:352530
Pelger-Huet Anomaly
Depressed nasal bridge, Abnormality of the dentition, Short 3rd metacarpal, Seizure, Upper limb u... OMIM:169400
Mehmo Syndrome
Seizure, Obesity, EEG abnormality, Growth delay, Agitation ORPHA:85282
Encephalopathy Due To Sulfite Oxidase Deficiency
Ataxia, Seizure, Short nose ORPHA:833
Rolandic Epilepsy-Speech Dyspraxia Syndrome
EEG with generalized epileptiform discharges, Continuous spike and waves during slow sleep, Seizu... ORPHA:163721
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Focal impaired awareness seizure, Seizure, Chorea, Aggressive be... ORPHA:382
Episodic Ataxia, Type 9
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Dyst... OMIM:618924
Microphthalmia With Limb Anomalies
Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retardation, Talipe... OMIM:206920
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Short thumb, Overlapping toe, Camptodactyly, Clinodactyly of the 5th finger, Short stature, Kyphosis OMIM:618453
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Distal sensory impairment,... OMIM:606842
Salt And Pepper Developmental Regression Syndrome
Hyporeflexia of upper limbs, Myoclonus, Irritability, Bilateral tonic-clonic seizure, Multifocal ... OMIM:609056
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ... OMIM:603546
Sandhoff Disease
Seizure, Progressive psychomotor deterioration, Motor deterioration, Ataxia, Kyphosis ORPHA:796
Atkin-Flaitz Syndrome
Broad nasal tip, Anteverted nares, Obesity, Short stature, Maxillary lateral incisor microdontia ORPHA:1193
Au-Kline Syndrome
Overlapping toe, Open mouth, Thoracolumbar scoliosis, High palate, Short nose, Downturned corners... OMIM:616580
Jaberi-Elahi Syndrome
Depressed nasal bridge, Pectus carinatum, Hand clenching, Kyphosis, Joint stiffness, Gait ataxia,... OMIM:617988
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger synda... ORPHA:3258
Spondyloenchondrodysplasia
Platyspondyly, Pectus carinatum, Hypoplastic ilia, Short distal phalanx of finger, Dental maloccl... ORPHA:1855
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Macrodontia of permanent maxillary central incisor, Narrow palate, Genu recur... ORPHA:364028
Sialidosis Type 1
Wide nasal bridge, Pectus carinatum, Abnormal form of the vertebral bodies, Short thorax, Thick l... ORPHA:812
Osteogenesis Imperfecta
Thin ribs, Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Micrognathia, G... ORPHA:666
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Wide nasal bridge, Depressed nasal bridge, Mandibular prognathia, Abnormal form of the vertebral ... ORPHA:2180
Glass Syndrome
Micrognathia, Narrow mouth, Arachnodactyly, Talipes equinovarus, Long nose, High palate, Restless... OMIM:612313
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Aggressive behavior, Bilateral tonic-clonic seizure, Ataxia OMIM:617709
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Failure to thrive OMIM:606762
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Luscan-Lumish Syndrome
Seizure, Obesity, Overgrowth, Polyphagia, Aggressive behavior, Short stature, Long nose, Mandibul... OMIM:616831
Stuve-Wiedemann Syndrome 1
Thin ribs, Wide nasal base, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal ra... OMIM:601559
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Depression, Seizure, Anteverted nares, Malar flattening, Smooth philtrum... OMIM:601853
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... ORPHA:65683
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Prominent nose, Anteverted nares, Overl... OMIM:618316
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, EEG with burst suppression, Clonic seizure, Bilateral tonic-clonic... OMIM:266100
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Narrow nasal bridge, Micrognathia, Short stature, Spina bifida occulta, Short ... ORPHA:1514
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Delayed epiphyseal ossification, Epiphyseal dysplasia, Premature osteoarthritis, Genu valgum, Abn... ORPHA:93360
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Severe short stature, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Po... OMIM:618728
Spondylometaphyseal Dysplasia, Kozlowski Type
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Disproportionate short-tr... OMIM:184252
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Tall stature, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, S... OMIM:269700
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Mental deterioration, EEG with continuous slow activity, Memory impairment,... ORPHA:275864
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Attention deficit hyperactivity disorder, Obesity, Seizure OMIM:618725
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Underdeveloped nasal alae, Seizure, Camptodactyly of finger, Intrauterine growth retardation, Mic... ORPHA:2083
Three M Syndrome 1
Postnatal growth retardation, Short neck, Mandibular prognathia, Hip dislocation, Short 5th finge... OMIM:273750
Pontocerebellar Hypoplasia, Type 2E
Myoclonic seizure, Micrognathia, Infantile spasms, Myoclonus, Irritability, Opisthotonus, Bilater... OMIM:615851
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Long philtrum, Micrognathia, Prominent nasal bridge, Single transverse palmar cr... OMIM:613544
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Joint contracture of the hand, Micrognathia, Genu valgum, Arachnodactyly, Talipes equi... OMIM:182212
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Dystonia 22, Juvenile-Onset
Mental deterioration, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Bila... OMIM:620453
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Microdontia, Thin upper lip v... OMIM:619736
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
Rolandic Epilepsy
EEG with irregular generalized spike and wave complexes, Depression, EEG with centrotemporal foca... ORPHA:1945
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Torus... ORPHA:2790
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Aggressive behavior, Hypsar... OMIM:616409
Morm Syndrome
Aggressive behavior, Hyperactivity, Truncal obesity ORPHA:75858
17P13.3 Microduplication Syndrome
Congenital hip dislocation, Narrow mouth, Short neck, Clinodactyly of the 5th finger, High palate... ORPHA:217385
Diastrophic Dysplasia
Laryngotracheal stenosis, Neonatal short-limb short stature, Cervical kyphosis, Hypoplastic cervi... OMIM:222600
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Growth delay, Seizure, Bulbous nose, Tented upper lip vermilion, Smooth p... ORPHA:261144
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Wide nasal bridge, Seizure, Postnatal growth retardation, Convex nasal ridge, Short stature, Smal... ORPHA:3369
Cardiofaciocutaneous Syndrome 1
Open bite, Micrognathia, Open mouth, Short neck, High palate, Short nose, Hyperextensibility of t... OMIM:115150
Nestor-Guillermo Progeria Syndrome
Thin ribs, Micrognathia, Limited elbow movement, Thin vermilion border, Flexion contracture, Oste... OMIM:614008
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Intellectual Developmental Disorder, Autosomal Dominant 74
Typical absence seizure, Prominent nose, Intrauterine growth retardation, Thin upper lip vermilio... OMIM:620688
Momo Syndrome
Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip... OMIM:157980
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:610021
Turnpenny-Fry Syndrome
Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Prominent nasal tip, Torticollis, High p... OMIM:618371
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Radioulnar synostosis, Vertebral clefting, Short nose, Syndactyly, ... OMIM:614701
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, Small... OMIM:268305
Phelan-Mcdermid Syndrome
Wide nasal bridge, Dental malocclusion, Impaired pain sensation, Long philtrum, Widely spaced tee... OMIM:606232
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Platyspondyly, Narrow chest, Rhizomelia, Abnormal clavicle morphology, Downtur... ORPHA:93267
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Depressed nasal bridge, Carious teeth, Seizure, Bulbous nose, Prominent nose, Obesity, Underdevel... OMIM:620191
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Natal tooth, Dental malocclusion, Short 1st metacarpal, Short fir... OMIM:601957
Achondroplasia
Flat acetabular roof, Disproportionate short stature, Thoracic hypoplasia, Cervical spinal canal ... ORPHA:15
Trichorhinophalangeal Syndrome, Type Iii
Pear-shaped nose, Accelerated bone age after puberty, Short foot, Short metacarpal, Coxa magna, O... OMIM:190351
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98793
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Pectus carinatum, Impaired pain sensation, Seizure, Chorea, Gait ataxia, Aggressive behavior, Hyp... ORPHA:500180
Pediatric-Onset Graves Disease