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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
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short stature, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, S... OMIM:245570
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Obesity And Hypopigmentation
Hyperinsulinemia, Polyphagia, Obesity, Overgrowth, Hepatic steatosis OMIM:620195
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Obesity, Tall stature OMIM:618406
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Polyphagia ORPHA:329249
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Hernández-Aguirre Negrete Syndrome
Bulbous nose, Obesity, EEG abnormality, Seizure, Delayed puberty ORPHA:2139
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Brachydactyly, Short stature, Abnormality of the dentition, Kyphosis, Dent... ORPHA:1858
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia OMIM:617885
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Short columella, Patchy distorti... OMIM:155050
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Broad nasal tip, Aggressive behavior, Obesity, Self-injurious behav... OMIM:613670
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
17Q21.31 Microduplication Syndrome
Anteverted nares, Micrognathia, Compulsive behaviors, Delayed puberty, Attention deficit hyperact... ORPHA:217340
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Downturned corner... ORPHA:1327
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Intellectual Developmental Disorder, X-Linked 91
Seizure, Short nose, Obesity OMIM:300577
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Agitation, Typ... ORPHA:276575
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... OMIM:608940
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Mild postnatal growth retardation, Micrognathia, Broad nasal tip, Fused ce... ORPHA:530983
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Intellectual Developmental Disorder, Autosomal Recessive 39
Hallux valgus, Hyperactivity, Short stature, Kyphoscoliosis, Prominent nose, Aggressive behavior,... OMIM:615541
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Autism, Susceptibility To, X-Linked 6
Seizure, Obesity, Underdeveloped nasal alae OMIM:300872
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis... OMIM:612350
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsuline... ORPHA:276580
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Anteverted nares, Short stature, Micrognathia, Short neck, Cleft palate... ORPHA:2015
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Intellectual Developmental Disorder, Autosomal Dominant 39
Aggressive behavior, Wide nasal bridge, Generalized non-motor (absence) seizure, Obesity, Focal i... OMIM:616521
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Wide nose, Short stature, Tapered finger, Pectus excavatum, Kyphosis, Depression, Pectus carinatu... ORPHA:276630
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Multifocal epileptiform ... OMIM:617904
Mcdonough Syndrome
Mandibular prognathia, Short stature, Micrognathia, Prominent nose, Kyphosis, Underdeveloped nasa... ORPHA:2471
Continuous Spikes And Waves During Sleep
Interictal epileptiform activity, EEG with frontal focal spike waves, EEG with centrotemporal foc... ORPHA:725
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Polyphagia, Obesity, Attention deficit hyperactivity disorder ORPHA:369873
Landau-Kleffner Syndrome
Gait ataxia, Non-convulsive status epilepticus without coma, Hyperactivity, EEG with frontal foca... ORPHA:98818
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Severe temper tantrums, Bilateral tonic-clonic seizure, Generalized non-motor (... OMIM:619854
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Small for gestational age, Focal-... ORPHA:289266
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Ataxia, Kyphosis, Dental malocclusion, Seizure, Short ... OMIM:141300
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Hyperlordosis, Joint st... ORPHA:40
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Thin upper lip vermilion, Brachydactyly, Short stature, Single transverse palmar crease, Bifid di... ORPHA:370010
Epilepsy, Progressive Myoclonic, 6
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myoclonu... OMIM:614018
Acromicric Dysplasia
Short metacarpal, Severe short stature, Anteverted nares, Ovoid vertebral bodies, Joint stiffness... ORPHA:969
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Aggressive behavior, Seizure, Bruxism ORPHA:356996
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Agitation, Hyperinsulinemic hypo... ORPHA:276556
Three M Syndrome 2
Short neck, Pectus carinatum, High palate, Intrauterine growth retardation, Scapular winging, Lum... OMIM:612921
14Q11.2 Microduplication Syndrome
Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism ORPHA:261229
Seckel Syndrome 1
Dental crowding, Abnormal finger flexion crease, Single transverse palmar crease, Micrognathia, P... OMIM:210600
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Seizure, Scoliosis, EEG abnormality OMIM:300518
Blepharophimosis-Impaired Intellectual Development Syndrome
Flexion contracture, Short philtrum, Low frustration tolerance, Widely spaced teeth, Microdontia,... OMIM:619293
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young,... ORPHA:324575
11P15.4 Microduplication Syndrome
Seizure, Anteverted nares, Obesity, Aggressive behavior ORPHA:300305
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Narrow... OMIM:156530
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Narrow mouth, Abnormal form of the vertebral bodies, Reduced bone mineral density,... ORPHA:2370
Non-Distal Duplication 10Q
Depressed nasal bridge, Short stature, Micrognathia, Pectus excavatum, Joint hyperflexibility, Hi... ORPHA:1695
Atelosteogenesis, Type I
Laryngeal stenosis, Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, ... OMIM:108720
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... ORPHA:171706
Potocki-Lupski Syndrome
Mandibular prognathia, Hyperactivity, Short stature, Dental crowding, Micrognathia, Oral-pharynge... OMIM:610883
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Depressed nasal bridg... ORPHA:61
Miller-Dieker Syndrome
Anteverted nares, Ataxia, Growth delay, Seizure, EEG abnormality, Short nose ORPHA:531
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Short stature, Abnormal dental morphology, Hyperlordosis, Short nec... ORPHA:2522
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Growth delay, Truncal obesity, Micrognathia, Delayed puberty ORPHA:140941
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Bulbous nose, Wide nasal brid... OMIM:620292
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Short stature, Wide nasal bridge, Fused cervical vertebrae, Short middle... OMIM:309620
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with polyspike wave complexes, Thin upper lip vermilion, Absence seizure with eyelid myocloni... OMIM:618587
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Restlessness, Delayed skeletal maturation, Flexion contracture, Seizure, Hip... OMIM:618379
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short nose, Anteverted nares, Short stature ORPHA:1355
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Short thumb, Microglossia, Gait ataxia, Status epilepticus, Myocl... OMIM:616540
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Depressed nasal bridge, Short stature, Kyphosis, Small hand, Hip dislocation, Shor... OMIM:300434
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicloni... OMIM:619317
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Dental crowding, Short neck, Micrognathia, Generalized joint laxity, Tibial bowing, H... ORPHA:251028
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:177910
Muenke Syndrome
Broad hallux, Capitate-hamate fusion, Dental malocclusion, Cone-shaped epiphyses of the phalanges... OMIM:602849
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Depressed nasal bridge, Short stature, Kyphosis, Congenital bilateral hip dislocat... ORPHA:85288
Yoon-Bellen Neurodevelopmental Syndrome
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, H... OMIM:619701
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Short stature, Inability to walk, Growth delay, Seizure, Short nose ORPHA:438178
Pycnodysostosis
Obtuse angle of mandible, Persistent open anterior fontanelle, Abnormal clavicle morphology, Micr... ORPHA:763
Frontometaphyseal Dysplasia 1
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... OMIM:305620
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, G... ORPHA:36387
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyphagia OMIM:222100
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Baker-Gordon Syndrome
Joint laxity, Thin upper lip vermilion, Ataxia, Choreoathetosis, EEG abnormality, Self-injurious ... OMIM:618218
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Short stature, Abnormality of the philtrum, Abnormality of the dentition, Dela... ORPHA:3268
Rhiny
Short nose, Anteverted nares OMIM:180360
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Confusion, Tremor, Focal-onset seizure, Gait ataxia, Depr... OMIM:615362
Hall-Riggs Syndrome
U-Shaped upper lip vermilion, Metaphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Pr... OMIM:234250
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... OMIM:251450
Rubinstein-Taybi Syndrome 2
Syndactyly, Hyperactivity, Broad hallux, Convex nasal ridge, Short stature, Micrognathia, Promine... OMIM:613684
Cdkl5-Deficiency Disorder
Hallux valgus, Broad proximal phalanges of the hand, Infantile spasms, Impaired pain sensation, K... ORPHA:505652
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Seizure, Truncal obesity, Gait disturbance, Short nose ORPHA:2429
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Pectus carinatum, Cone... OMIM:190350
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Seizure, Gait disturbance, Obesity ORPHA:436141
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Tonic seiz... OMIM:617389
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Single transverse palmar crease, Short stature, ... OMIM:617711
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... ORPHA:208441
Acrootoocular Syndrome
Decreased palmar creases, Abnormal finger flexion crease, Micrognathia, High, narrow palate, Anod... ORPHA:2980
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Short attention span, Anteverted nares, Prominent nasal bridge, Bila... OMIM:300558
Intellectual Developmental Disorder, Autosomal Dominant 52
Prominent nose, Pica, Pectus carinatum, Downturned corners of mouth, High palate, Short philtrum,... OMIM:617796
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Short stature, Narrow mouth, Wide nasal bridge, Growth delay, Seizure, Downturned corners of mout... OMIM:617333
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... ORPHA:97279
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic ... OMIM:601820
Epilepsy, Progressive Myoclonic 7
Ataxia, Bilateral tonic-clonic seizure, Tremor, EEG with generalized epileptiform discharges, Myo... OMIM:616187
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Restlessness, Bilateral tonic-clonic seizure, EEG abnormality, Irritability, Focal impaired aware... OMIM:610003
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hy... OMIM:619970
Mehmo Syndrome
Small for gestational age, Aggressive behavior, Broad nasal tip, Inability to walk, Obesity, Gait... OMIM:300148
Burn-Mckeown Syndrome
Short stature, Prominent nasal bridge, Wide nasal bridge, Short nose, Bilateral choanal atresia ORPHA:1200
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Depressed nasal bridge, Bilateral tonic-clonic seizure, Infantile spasms, Micrognathia, Focal-ons... OMIM:619616
Odontochondrodysplasia
Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Short stature, Micro... ORPHA:166272
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Dental crowding, High palate, Clinodactyly of the 5th finger, Spina bifida occulta, S... OMIM:617877
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Mandibular prognathia, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, ... OMIM:604317
Rhizomelic Syndrome, Urbach Type
Short neck, Micrognathia, Abnormal form of the vertebral bodies, High palate, Triphalangeal thumb... ORPHA:3098
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener... OMIM:601068
Kbg Syndrome
Persistent open anterior fontanelle, Single transverse palmar crease, Short neck, Finger clinodac... ORPHA:2332
Harrod Syndrome
Arachnodactyly, Long nose, Kyphosis, Dental malocclusion, Abnormal shoulder morphology, Seizure, ... ORPHA:2115
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Mandibular prognathia, Hyperactivity, Broad-based gait, Ataxia, Obesity, Seizure, EEG abnormality... ORPHA:411515
Foxg1 Syndrome
Dystonia, Bilateral tonic-clonic seizure, Short stature, Kyphoscoliosis, Infantile spasms, Focal-... ORPHA:561854
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Anteverted nares, Thor... OMIM:313420
Stxbp1-Related Encephalopathy
Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... ORPHA:599373
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, Anteverted nares, Tapered finger, Long fingers, Dental malocclusion, Gait ... OMIM:618292
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thin upper lip vermilion, Short stature, Thoracolumbar scoliosis, Micrognathia, Short neck, Under... OMIM:616549
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Wide nasal bridge, High... OMIM:618393
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Lumbar hyperlordosis, Congenital hip dislocation, Broad nasal tip, Achi... OMIM:619719
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Dental crowding, Single transverse palmar crease, Micrognathia, Tremor, Oligodontia, High palate,... OMIM:617061
Clark-Baraitser Syndrome
Hyperactivity, Depressed nasal bridge, Anteverted nares, Aggressive behavior, Obesity, Seizure, S... OMIM:617752
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Joint laxity, Hyperextensibility of the finger joints, Hypermobility of toe joints, Wide nose, De... ORPHA:488635
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi... OMIM:614078
Larsen-Like Syndrome
Joint dislocation, Joint laxity, Short stature, Kyphoscoliosis, Wide anterior fontanel, Delayed s... OMIM:608545
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abnormal shoulder ... ORPHA:2345
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia... OMIM:615006
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... OMIM:619964
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Internally rotated shoulders, Bilateral tonic-clonic seizure, ... OMIM:617468
Mitochondrial Complex I Deficiency, Nuclear Type 15
Bilateral tonic-clonic seizure, Kyphosis, Flexion contracture, Irritability, Dystonia, Neonatal d... OMIM:618237
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Intrauterine growth retardation OMIM:620270
Ruvalcaba Syndrome
Dental crowding, Proximal placement of thumb, Micromelia, Pectus carinatum, Narrow chest, Clinoda... ORPHA:3121
Adenylosuccinate Lyase Deficiency
Seizure, Short nose, Anteverted nares ORPHA:46
Xq27.3Q28 Duplication Syndrome
Short stature, Bulbous nose, Truncal obesity, Intrauterine growth retardation, Failure to thrive ORPHA:261483
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Seizure, Status e... ORPHA:330050
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Kyphosis, Seizure, Cognitive impairment, Scoliosis ORPHA:2744
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Impulsivity, Myoclonic s... OMIM:617113
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Anteverted nares, Depressed... OMIM:616331
Chromosome Xq26.3 Duplication Syndrome
Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis... OMIM:300942
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Depression, Dementia, Myoclonus, Men... OMIM:204300
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Seizure, Increa... OMIM:119540
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Interictal EEG abnormality, Restlessness, Bilateral tonic-clonic seizure, In... ORPHA:544503
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Myoclonic seizure, Depression, Seizure, Dementia, Myoclonus OMIM:162350
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med... ORPHA:313892
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Aggressive behavior, EEG abnormality, Agitation, Status epileptic... OMIM:617171
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Slender nose, Thin upper lip vermilion, Micrognathia, ... OMIM:615419
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Ankle clonus, Seizure, High palate, Scoliosis, Joint contracture OMIM:611225
Pierpont Syndrome
Short neck, Widely spaced teeth, Short palm, Prominent fingertip pads, Short stature, Short toe, ... OMIM:602342
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Ck Syndrome
Hyperactivity, Dental crowding, Prominent nasal bridge, Micrognathia, Hyperlordosis, Kyphosis, Ag... OMIM:300831
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Dental malocclusion, Abnormal pelvic girdle bone morphology, Metacarpal... OMIM:144750
Brachyolmia Type 1, Hobaek Type
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Mental d... ORPHA:2382
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Intellectual Developmental Disorder, Autosomal Recessive 74
EEG with polyspike wave complexes, Mandibular prognathia, Hyperactivity, Prominent nose, Wide nas... OMIM:617169
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Simple febrile seizure, Infantile spa... ORPHA:98820
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth, Epileptic spasm, Bilateral tonic-clonic seizure, Kyphoscoliosis, Flexi... OMIM:617105
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Proximal placement of thumb, Micrognathia, Prominent nose, High, narrow pa... ORPHA:435638
Developmental And Epileptic Encephalopathy 63
Thin upper lip vermilion, Epileptic spasm, Generalized-onset seizure, Overlapping toe, Bilateral ... OMIM:617976
Schneckenbecken Dysplasia
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... OMIM:269250
Autism Spectrum Disorder Due To Auts2 Deficiency
Decreased palmar creases, Micrognathia, Congenital contracture, Short philtrum, Joint contracture... ORPHA:352490
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Micrognathia, Short neck, Depressed nasal ridge, Gingival fibromatosis, Gingiva... ORPHA:1832
Developmental And Epileptic Encephalopathy 23
Anteverted nares, Prominent nasal bridge, Bilateral tonic-clonic seizure, Broad nasal tip, Tonic ... OMIM:615859
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Rafiq Syndrome
Wide nose, Ataxia, Short stature, Prominent nose, Aggressive behavior, Bulbous nose, Wide nasal b... OMIM:614202
Zimmermann-Laband Syndrome 3
Broad nasal tip, Aplasia of the distal phalanx of the 5th toe, Kyphosis, Thick lower lip vermilio... OMIM:618658
Peho-Like Syndrome
Bilateral tonic-clonic seizure, Tapered finger, Hypsarrhythmia, Status epilepticus, Myoclonus, Sh... OMIM:617507
Distal Duplication 18Q
Arachnodactyly, Camptodactyly of finger, Anteverted nares, Short neck, Progressive intervertebral... ORPHA:1716
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose OMIM:125700
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Carious t... ORPHA:2501
Cri-Du-Chat Syndrome
Single transverse palmar crease, Short neck, Short metatarsal, Orofacial cleft, Downturned corner... OMIM:123450
Sclerosteosis 1
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Malar flattening, Sclerotic scapulae, ... OMIM:269500
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Back pain, Spastic ataxia, Somatic sensory dysfunction, Bilateral tonic-clonic seizure, Kyphoscol... ORPHA:199354
Acromicric Dysplasia
Short metacarpal, Severe short stature, Anteverted nares, Ovoid vertebral bodies, Narrow mouth, B... OMIM:102370
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Depressed nasal bridge, Camptodactyly of finger, Microme... ORPHA:2635
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Short metacarpal, Wide nose, Rhizomelia, Hyperlordosis, Dep... ORPHA:2831
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Truncal ataxia, A... OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Wide nasal bridge, Seizure, Truncal obesity, Bruxism, Recurrent hand flapping OMIM:613192
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Low hanging columella, Proxim... OMIM:184460
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Irregular vertebral endplat... OMIM:618363
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Wide cranial sutures, Aggressive behavior, Dental malocclusion, Wide na... OMIM:619149
Craniosynostosis 3
Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Dental malocclusion, L... OMIM:615314
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Anteverted nares, Depressed nasal bridge, Increased intervertebral space, Thoracic... OMIM:618961
Frontometaphyseal Dysplasia
Subglottic stenosis, Single transverse palmar crease, Limited elbow movement, Micrognathia, Metap... ORPHA:1826
Fibrochondrogenesis 2
Anteverted nares, Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal w... OMIM:614524
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Short stature, Micrognathia, Short neck, Underdeveloped nasal alae, Diastema, Dental malocclusion... ORPHA:436245
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Micrognathia, Prominent nose, Hemivertebrae, Depressed nasal ridge, Downtu... OMIM:156200
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of fing... ORPHA:1436
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Short neck, Micrognathia, Downturned corners of mouth, Thoracic kyphosis, High palate, Narrow che... ORPHA:163649
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Mild postnatal growth retardation, Accelerated skeletal maturation, Hypopl... OMIM:101800
Kohlschutter-Tonz Syndrome
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Hypsarrhythmia, S... OMIM:226750
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Broad-based gait, Ataxia, Short stature, Inability to walk, Obesity, Seizure, Gene... OMIM:616756
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Hypoinsulinemia, Large for gestational age OMIM:240900
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Progressive neurologic deterioration, EEG with photoparoxysmal re... OMIM:616230
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... OMIM:615127
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Subglottic stenosis, ... ORPHA:93357
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Accelerated skele... ORPHA:439822
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Micromelia, Short neck, Delayed epiphyseal ossification, Deep philtrum, Narrow chest, Dysplastic ... OMIM:613320
Aarskog-Scott Syndrome
Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacia... ORPHA:915
Verheij Syndrome
Joint laxity, Vertebral fusion, Thin upper lip vermilion, Anteverted nares, Short stature, Short ... OMIM:615583
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Mandibular prognathia, Prominent metopic ridge, Ataxia, Progressive neurologic deterioration, Kyp... ORPHA:85317
Parastremmatic Dwarfism
Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu v... OMIM:168400
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Short nose, Obesity OMIM:611936
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Short stature, Ataxia, Kyphosis, Pectus carinatum, Hip dysplasia, Tongue fasciculations, Attentio... OMIM:620007
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Short stature, Abnormal dental morphology, Open bite, Dental malocclusion,... ORPHA:3079
Femoral-Facial Syndrome
Micrognathia, Coxa vara, Orofacial cleft, Sprengel anomaly, Vertebral segmentation defect, Aplasi... ORPHA:1988
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... OMIM:300088
Benign Familial Infantile Epilepsy
Psychomotor deterioration, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:306
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Rocker bottom foot, Single transverse palmar crease, Short neck, Micrognathia, Kyphosis... OMIM:611890
Ruvalcaba Syndrome
Short metacarpal, Short stature, Dental crowding, Micromelia, Underdeveloped nasal alae, Kyphosis... OMIM:180870
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with polyspike wave complexes, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor ... OMIM:254800
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sacral dimple, Sandal gap, Anteverted nares, Postaxial polydactyly, Hyp... OMIM:615761
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Short stature, Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Aggressi... OMIM:619639
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Micrognathia, Unilateral radial aplasia, Tremor, Aplasia of the 1st metacarpal, ... ORPHA:476126
Congenital Disorder Of Glycosylation, Type Iaa
Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Status epilepticus, Scoliosis, Intrauteri... OMIM:617082
Dravet Syndrome
Ataxia, Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Vis... OMIM:607208
Mucopolysaccharidosis Type 4
Joint dislocation, Short neck, Reduced bone mineral density, Pectus carinatum, Anteverted nares, ... ORPHA:582
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, Focal-onset seizure, EEG... OMIM:613608
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Bilateral tonic-clonic seizure, Broad nasal tip, Inability to walk, Wide nasal bridge, Myoclonic ... OMIM:615716
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Dystonia, Anteverted nares, Bilateral tonic-clonic seizure, Tonic seizure, Myocl... OMIM:618497
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Hypogonadism, Skin-picki... OMIM:615547
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... OMIM:271700
Myopathy, Myofibrillar, 8
Scapular winging, Micrognathia, Spinal rigidity, Distal joint laxity, Achilles tendon contracture... OMIM:617258
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Arachnodactyly, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor... OMIM:619092
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Chorea, Gen... ORPHA:485350
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Increased bone mineral density, Sandal gap, Depressed nasal bridge, Sho... ORPHA:90650
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Short neck, Micrognathia, Long nose, Choreoathetosis, High palate, Short philtrum, Clinodactyly o... OMIM:620224
Chung-Jansen Syndrome
Anteverted nares, Impulsivity, Aggressive behavior, Micrognathia, Obesity, Attention deficit hype... OMIM:617991
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Choreoathetosi... OMIM:234100
Intellectual Developmental Disorder, X-Linked 107
Mandibular prognathia, Hyperactivity, Aggressive behavior, Obesity, Seizure, Attention deficit hy... OMIM:301013
Intellectual Developmental Disorder, Autosomal Recessive 46
Mandibular prognathia, Ataxia, Short stature, Aggressive behavior, Large for gestational age, Gro... OMIM:616116
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Thin upper lip vermilion, Micrognathia, Generalized clonic seizure, EEG with burst su... ORPHA:329178
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with foc... OMIM:618067
Mulibrey Nanism
Wide nose, Depressed nasal bridge, Single transverse palmar crease, Short stature, Dental crowdin... OMIM:253250
6Q16 Microdeletion Syndrome
Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i... ORPHA:457395
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Microgn... ORPHA:628
Ritscher-Schinzel Syndrome 4
Chorea, High palate, Short philtrum, Abnormal repetitive mannerisms, Ataxia, Short stature, Taper... OMIM:619435
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Hyperhid... ORPHA:33543
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re... ORPHA:210110
Leukodystrophy, Hypomyelinating, 17
Mandibular prognathia, Anteverted nares, Kyphoscoliosis, Flexion contracture, Gingival overgrowth... OMIM:618006
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares ORPHA:1450
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Joint dislocation, Dental crowding, Short neck, Knee flexion contracture, ... OMIM:193700
Acrocephalopolydactyly
Genu recurvatum, Short neck, Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose... ORPHA:221054
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Short neck, Micrognathia, Downturned corners of mouth, Oligodontia, Short philtrum, Joint laxity,... ORPHA:391408
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Long nose, Self-biting, Abnormal repetitive mannerisms, Hyperactivity, Dep... OMIM:300912
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract... OMIM:265000
Polymicrogyria, Bilateral Temporooccipital
Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Status epilepticus, Focal i... OMIM:612691
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, EEG with burst s... OMIM:619605
Intellectual Developmental Disorder With Autism And Macrocephaly
Wide nose, Overweight, Pica, Wide nasal bridge, Seizure, Recurrent hand flapping, Tall stature OMIM:615032
Congenital Disorder Of Glycosylation, Type Iiy
Bilateral tonic-clonic seizure, Delayed skeletal maturation, Reduced bone mineral density, Status... OMIM:620200
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Kyphosis, Short... OMIM:301900
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
11Q22.2Q22.3 Microdeletion Syndrome
Depressed nasal bridge, Micrognathia, Obesity, Seizure, Attention deficit hyperactivity disorder,... ORPHA:444002
Pseudoachondroplasia
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... OMIM:177170
Vitamin K Antagonist Embryofetopathy
Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Punctate vertebral calcifi... ORPHA:1914
Lissencephaly 10
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... OMIM:618873
Rasmussen Subacute Encephalitis
EEG with focal spikes, Interictal epileptiform activity, Hyperactivity, Bilateral tonic-clonic se... ORPHA:1929
Acrodysostosis
Mandibular prognathia, Micromelia, Accelerated skeletal maturation, Hypoplasia of the maxilla, Sh... ORPHA:950
Trichothiodystrophy 9, Nonphotosensitive
Joint laxity, Ataxia, High, narrow palate, Dental malocclusion, Brachydactyly OMIM:619692
Schwartz-Jampel Syndrome
Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum, High palate, Wrist flexion con... ORPHA:800
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Depressed... OMIM:300863
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Short nose, Short stature, Cachexia ORPHA:1389
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Short stature, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Trismus, Joint stiffness... OMIM:616583
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Depressed nasal bridge, Anteverted nares, Oral-pharyngeal dysphagia, Broad nasal tip, Postnatal g... ORPHA:480907
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Bilateral tonic-clonic seizure, Infantile spasms, Diastema, Bulbous nose, Wide mouth, Short dista... OMIM:618470
Glycosylphosphatidylinositol Biosynthesis Defect 15
Osteopenia, Anteverted nares, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (abse... OMIM:617810
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short stature, Micrognathia, Growth delay, Seizure, Intrauterine growth retardation, Short nose ORPHA:1495
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Laryngeal stenosis, Short metacarpal, Enlarged interphalangeal joints, Genu recurv... OMIM:151200
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Hyperactivity, Impulsivity, Seizure, Short nose OMIM:300143
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Hyperactivity, Depressed nasal bridge, Anteverted nares, Obesity, Mild sho... OMIM:614613
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Short stature, Focal EEG discharges with secondary generalizatio... ORPHA:3077
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, Kyphosis, High palate, Scoliosis, Delayed puberty, Short nose, Long philtrum ORPHA:2598
Van Maldergem Syndrome 1
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... OMIM:601390
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Hyp... OMIM:616139
Oliver Syndrome
Mandibular prognathia, Bilateral tonic-clonic seizure, Camptodactyly of finger, Short toe, Postax... ORPHA:2920
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Severe short stature, Ovoid vertebral bodies, Joint stiff... OMIM:132400
Clark-Baraitser syndrome
Joint laxity, Exaggerated median tongue furrow, Anteverted nares, Genu recurvatum, Tapered finger... OMIM:300602
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol use, Agitation, Co... ORPHA:399
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti... OMIM:223800
Bardet-Biedl Syndrome 10
Seizure, Obesity OMIM:615987
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Anteverted nares, Abnorm... ORPHA:1458
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Tapered finger, Hypoplasia of the maxilla, Long finger... OMIM:218000
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Micrognathia, Joint sti... ORPHA:1801
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Hypoplasia of the primary te... OMIM:257850
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... OMIM:608105
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Broad nasal tip, Overweight, Repetitive compulsive behavior, Recurrent upp... ORPHA:391372
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Short neck, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 ve... OMIM:214300
Epilepsy, Nocturnal Frontal Lobe, 2
Depression, Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus OMIM:603204
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Single transverse palmar crease, Head tremor, Abnormal... OMIM:619428
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Cornelia De Lange Syndrome 2
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, ... OMIM:300590
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, EEG wit... ORPHA:86909
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... OMIM:602875
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... ORPHA:83451
Microduplication Xp11.22P11.23 Syndrome
Seizure, EEG with centrotemporal focal spike waves, Obesity ORPHA:217377
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Abnormal form of the vertebral b... ORPHA:819
Myoclonic-Astatic Epilepsy
EEG with focal spike waves, Tremor, Interictal epileptiform activity, Thick nasal alae, EEG with ... ORPHA:1942
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Short neck, Abnormal hand... OMIM:200600
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short stature, Micromelia, Micrognathia, Craniosynostosis, Split hand, Abnorma... ORPHA:2145
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Dental crowding, Elbow contr... OMIM:617201
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Gait ata... OMIM:617831
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal... OMIM:614417
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodys... OMIM:608594
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Bilateral tonic-clonic seizure, Short stature, Hand tremor, Gait ataxia, Dysphagia, Recurrent han... OMIM:617862
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Bardet-Biedl Syndrome 9
Truncal obesity, Polydipsia, Polyphagia, Obesity OMIM:615986
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Chromosome 2Q37 Deletion Syndrome
Wide nose, Hyperactivity, Depressed nasal bridge, Anteverted nares, Short stature, Broad nasal ti... OMIM:600430
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Ataxia, Prominent nasal bridge, Bilateral tonic-clonic seizure, Prominent nose, Seizure OMIM:620317
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Generalized n... OMIM:619157
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Unilambdoid synostosis, Wide nasal ... OMIM:618577
Zimmermann-Laband Syndrome
Hallux valgus, Wide nose, Micrognathia, Short neck, Supernumerary tooth, Bulbous nose, Gingival f... ORPHA:3473
Beta-Mercaptolactate Cysteine Disulfiduria
Anteverted nares, Short stature, Obesity, Seizure, EEG abnormality, Convex nasal ridge ORPHA:1035
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ... OMIM:184260
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Rhizomelia, Short stature, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of... ORPHA:163966
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mandibular prognathia, Joint laxity, Hyperactivity, Sandal gap, Depressed nasal bridge, Short sta... OMIM:300354
Crisponi Syndrome
Wide nose, Anteverted nares, Camptodactyly of finger, Micrognathia, Kyphosis, Narrow mouth, Flexi... ORPHA:1545
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic... OMIM:619913
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Postaxial polydactyly, Hypoplasia of the odontoid process, Bulbous nose, Wide nas... OMIM:612913
Intellectual Developmental Disorder, Autosomal Dominant 26
Hyperactivity, Anteverted nares, Decreased palmar creases, Depressed nasal bridge, Micrognathia, ... OMIM:615834
Achondrogenesis Type 1B
Severe short stature, Anteverted nares, Micromelia, Short neck, Micrognathia, Abnormal enchondral... ORPHA:93298
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Bilateral tonic-clonic seizure with generalized onset, Shor... ORPHA:1445
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide... OMIM:601224
Harel-Yoon Syndrome
Mandibular prognathia, Ataxia, Micrognathia, Generalized non-motor (absence) seizure, Pectus cari... OMIM:617183
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Ataxia, Sandal gap, Depresse... OMIM:618430
Van Maldergem Syndrome 2
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... OMIM:615546
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Deep philtrum, Myoclonic seizure, Downturned corners of mouth, High palate, Hypoplasi... OMIM:615398
4Q21 Microdeletion Syndrome
Toe syndactyly, Depressed nasal bridge, Micromelia, Short neck, Abnormality of the dentition, Kyp... ORPHA:238750
Unilateral Focal Polymicrogyria
EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... ORPHA:268947
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Auriculocondylar Syndrome 2A
Dental crowding, Micrognathia, Narrow mouth, Dental malocclusion, Temporomandibular joint ankylos... OMIM:614669
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Tapered finger, Thick lower li... OMIM:619000
Shashi-Pena Syndrome
Thin upper lip vermilion, Short metacarpal, Broad nasal tip, Accelerated skeletal maturation, Kyp... OMIM:617190
Momo Syndrome
Delayed eruption of teeth, Short stature, Short neck, Thick lower lip vermilion, Dental malocclus... ORPHA:2563
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Subglottic stenosis, Osteopenia, Metaphyseal widening, Laryngotracheomalac... OMIM:271510
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Hypoplasia ... OMIM:305400
Intellectual Developmental Disorder, Autosomal Recessive 41
Mandibular prognathia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Broad nasal tip... OMIM:615637
Epilepsy, Progressive Myoclonic, 12
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Depression, Myoclonus, Attention deficit hyper... OMIM:619191
Frank-Ter Haar Syndrome
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, High palate, Short palm, Shor... OMIM:249420
Faciodigitogenital Syndrome, Autosomal Recessive
Deep philtrum, High palate, Clinodactyly of the 5th finger, Syndactyly, Vertebral fusion, Antever... OMIM:227330
Ck Syndrome
Long toe, Microretrognathia, Hyperactivity, Lumbar hyperlordosis, Dental crowding, Prominent nasa... ORPHA:251383
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Camptodactyly of finger, Short stature, Micrognathia, Malar prominence, Kyphosis, Osteopo... ORPHA:48431
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli... OMIM:300373
Dermotrichic Syndrome
Depressed nasal bridge, Proportionate short stature, Seizure, EEG abnormality, Short nose ORPHA:99688
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wrists, Pectus carinatum, I... ORPHA:481152
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... OMIM:300232
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... OMIM:222600
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Intellectual Developmental Disorder, Autosomal Recessive 44
Depressed nasal bridge, Anteverted nares, Bilateral tonic-clonic seizure, Focal-onset seizure, Th... OMIM:615942
Atypical Rett Syndrome
Restrictive behavior, Dystonia, Infantile spasms, Impaired pain sensation, Tremor, Kyphosis, Tong... ORPHA:3095
Takenouchi-Kosaki Syndrome
Thin upper lip vermilion, Overlapping toe, Ataxia, Proximal placement of thumb, Tapered finger, B... OMIM:616737
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Pectus excavatum, Dentin... OMIM:259440
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Short stature, Choanal atresia, Pectus excavatum, Submucous cleft hard palate, Retrogn... OMIM:619227
Spinocerebellar Ataxia 48
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Dysmetria, Gait ataxia, Depress... OMIM:618093
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Short neck, Downturned corners of mouth, High palate, Widely spaced teeth,... ORPHA:369891
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Anteverted nares, Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum ... ORPHA:1797
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... OMIM:615400
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Seizure, Short stature, Obesity ORPHA:3055
Robinow Syndrome
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty... ORPHA:97360
Robinow Syndrome, Autosomal Dominant 3
Short neck, Micrognathia, Downturned corners of mouth, Short phalanx of finger, Syndactyly, Antev... OMIM:616894
Developmental And Epileptic Encephalopathy 42
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Flexion contracture, Focal tonic s... OMIM:617106
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Tented upper lip vermilion, Overlapping toe, Anteverted nares, Delayed skele... OMIM:619383
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... OMIM:303600
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Thick nasal alae, Hypoplasti... ORPHA:79345
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... ORPHA:2616
Achondrogenesis Type 1A
Multiple rib fractures, Severe short stature, Anteverted nares, Recurrent fractures, Micromelia, ... ORPHA:93299
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Mosaic Trisomy 14
Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Short neck, Abno... ORPHA:1703
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Bilateral tonic-clonic seizure, Micrognathia, Narrow mouth, Open mouth, Head-ba... OMIM:619356
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Short stature, Underdeveloped nasal alae, Dental malocclusion, Widely spaced teeth, Malar flattening OMIM:616108
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, Chorea, Gait ataxia, C... OMIM:619777
Developmental And Epileptic Encephalopathy 95
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Long nose,... OMIM:618143
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Camptodactyly of finger... ORPHA:137834
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Chorea, Athetosis, Se... ORPHA:382
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... OMIM:611717
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Choreoathetosis, Irritability... OMIM:609056
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Short neck, Micrognathia, Depressed nasal ridge, Triangular shape... OMIM:271665
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Generalized-onset seizure, Limited elbow movement, Micrognathia, Increased intervertebral space, ... ORPHA:508533
Jaberi-Elahi Syndrome
Depressed nasal bridge, Bilateral tonic-clonic seizure, Joint stiffness, Tremor, Kyphosis, Triang... OMIM:617988
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o... OMIM:616007
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Incr... OMIM:610600
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti... ORPHA:666
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Short stature, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger OMIM:618453
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Joint laxity, Pain insensitivity, Bilateral tonic-clonic seizure, Genu rec... ORPHA:364028
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormal intervertebral disk morphology, Anteverted nares, Short stature, Carious teeth, Pectus e... ORPHA:2701
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Short attention span, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG w... ORPHA:163721
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Short stature, Obesity OMIM:619058
Pelger-Huet Anomaly
Depressed nasal bridge, Bilateral tonic-clonic seizure, Abnormality of the dentition, Kyphosis, U... OMIM:169400
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Generalized myoclonic seizure, Seizure, Wide nasal bridge, Obesity ORPHA:352530
Cenani-Lenz Syndrome
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short ... ORPHA:3258
Encephalopathy Due To Sulfite Oxidase Deficiency
Seizure, Short nose, Ataxia ORPHA:833
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Ataxia, Bilateral tonic-clonic seizure, Short stature, Absent pubertal growth spurt, Kyphosis, Hi... ORPHA:464282
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto... OMIM:618924
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... OMIM:206920
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, EEG with burst suppression, Clonic seizure, Status epilepticus, G... OMIM:266100
Mehmo Syndrome
Obesity, Growth delay, Seizure, EEG abnormality, Agitation ORPHA:85282
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Focal EEG discharges with secondary g... ORPHA:263516
Au-Kline Syndrome
Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Clinodactyl... OMIM:616580
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Low frustration tolerance, Abnormal repetitive mannerisms, EEG with generalize... ORPHA:168491
Luscan-Lumish Syndrome
Mandibular prognathia, Short stature, Aggressive behavior, Long nose, Obesity, Seizure, Overgrowt... OMIM:616831
Sandhoff Disease
Ataxia, Kyphosis, Progressive psychomotor deterioration, Seizure, Motor deterioration ORPHA:796
Sialidosis Type 1
Ataxia, Short stature, Decreased nerve conduction velocity, Kyphosis, Tremor, Thick lower lip ver... ORPHA:812
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Sandal gap, Anteverted nares, Abnormal dental enamel morphology, Prominent... ORPHA:2180
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Ataxia, Aggressive behavior, Bilateral tonic-clonic seizure OMIM:617709
Glass Syndrome
Dental crowding, Anterior tibial bowing, Micrognathia, Long nose, Conical tooth, Oligodontia, Hig... OMIM:612313
Spondyloenchondrodysplasia
Delayed eruption of teeth, Metaphyseal dysplasia, Short stature, Bowing of the legs, Hypoplastic ... ORPHA:1855
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Anteverted nares, Ataxia, Craniosynostosis, Short stature, Wide anterior fontanel,... OMIM:601853
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Dental crowding, Short metatarsal, Short palm, Short phalanx of finger, Short metacar... OMIM:190351
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Obesity OMIM:300209
Isolated Focal Cortical Dysplasia
Psychomotor deterioration, Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic sei... ORPHA:65683
Amelogenesis Imperfecta
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... ORPHA:88661
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Short stature, Micrognathia, Short nose, Spina bifida occ... ORPHA:1514
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
Atkin-Flaitz Syndrome
Anteverted nares, Short stature, Broad nasal tip, Obesity, Maxillary lateral incisor microdontia ORPHA:1193
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo... OMIM:269700
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Thin upper lip vermilion, Overlapping toe, Anteverted nares, Depressed nasal bridge, Pr... OMIM:618316
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Chopra-Amiel-Gordon Syndrome
Thin upper lip vermilion, Short stature, Joint hypermobility, Postnatal growth retardation, Cleft... OMIM:619504
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle... ORPHA:2790
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... OMIM:184252
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Meta... OMIM:182212
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Bilateral single transverse palmar creases, Camptodactyly of finger, Prominent nasal bridge, Micr... ORPHA:2083
Three M Syndrome 1
Mandibular prognathia, Joint dislocation, Short neck, Increased vertebral height, Clinodactyly of... OMIM:273750
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Seizure, Obesity, Attention deficit hyperactivity disorder OMIM:618725
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... OMIM:101200
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Bilateral tonic-clonic seizure with generalized onset, Short stature, Infantile spasms... OMIM:615851
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... OMIM:253000
Chromosome 6Q11-Q14 Deletion Syndrome
Joint laxity, Thin upper lip vermilion, Sacral dimple, Short stature, Single transverse palmar cr... OMIM:613544
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98793
Wilson-Turner Syndrome
Short stature, Micrognathia, Broad nasal tip, Seizure, Truncal obesity ORPHA:3459
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Broad na... OMIM:619736
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Depressed nasal bridg... ORPHA:261144
17P13.3 Microduplication Syndrome
Wide nose, Congenital hip dislocation, Short neck, High palate, Narrow mouth, Clinodactyly of the... ORPHA:217385
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
EEG with polyspike wave complexes, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Short stature, Small for gestational age, Postnatal growth retardation, Wide nasal bridge, Seizur... ORPHA:3369
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Aggressive behavior, Typical absence seizure, Hy... OMIM:616409
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Rolandic Epilepsy
Short attention span, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal ... ORPHA:1945
Pediatric-Onset Graves Disease
Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with dif... ORPHA:525731
Stuve-Wiedemann Syndrome 1
Enlarged joints, Single transverse palmar crease, Short neck, Micrognathia, Tibial bowing, Femora... OMIM:601559
Angelman Syndrome Due To A Point Mutation
Mandibular prognathia, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obes... ORPHA:411511
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Short neck, Micrognathia, Deep philtrum, Pec... OMIM:115150
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Depressed nasal bridge, Ataxia, Prominent nose, Aggressive behavior, Carious teeth, Bulbous nose,... OMIM:620191
Phelan-Mcdermid Syndrome
Sacral dimple, Impaired pain sensation, Micrognathia, Aggressive behavior, Bulbous nose, Tongue t... OMIM:606232
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98754
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv... ORPHA:101039
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177904
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Single transverse palmar crease, Hemivertebrae, Coxa vara, Pectus carinatum, Clinodactyly of the ... OMIM:614701
Cerebellofaciodental Syndrome
Short stature, Single transverse palmar crease, Tapered finger, Short neck, Aggressive behavior, ... OMIM:616202
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Brachydactyly, Single transverse palmar crease, Dental malocc... OMIM:601957
Momo Syndrome
Delayed eruption of teeth, Short neck, Delayed skeletal maturation, Thick lower lip vermilion, De... OMIM:157980
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177901
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Arachnodactyly, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (abs... OMIM:617600
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Short stature, Selective tooth agene... ORPHA:2959
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Short neck, Tapered finger, Aggressive behavior, Narrow mouth, Wide nasal bridge, N... OMIM:620250
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... OMIM:301040
Mitochondrial Complex I Deficiency, Nuclear Type 12
Ataxia, Bilateral tonic-clonic seizure, Choreoathetosis, Seizure, Dementia, Myoclonus, Generalize... OMIM:301020
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure... OMIM:607682
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Impaired pain sensation, Aggressive behavior, Kyphosis, Cho... ORPHA:500180
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, I... OMIM:619797
Rubinstein-Taybi Syndrome 1
Dental crowding, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, Promin... OMIM:180849
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Short palm,... OMIM:268310
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short neck, Beaded ribs, Micrognathia, Multiple prenatal fractures, Flexion contractu... OMIM:616897
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Tonic seizure, Visually-induced ... OMIM:615369
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Coffin-Siris Syndrome 6
Depressed nasal bridge, Short stature, Kyphoscoliosis, Micrognathia, Broad nasal tip, High, narro... OMIM:617808
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis, Disproportionate... ORPHA:1354
Tetrasomy 18P
Narrow mouth, Seizure, Large hands, Thin vermilion border, Scoliosis, Long philtrum, Short nose ORPHA:3307
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Flynn-Aird Syndrome
Increased bone mineral density, Ataxia, Kyphoscoliosis, Joint stiffness, Carious teeth, Osteoporo... OMIM:136300
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper limb amyotrophy, Scoliosis, Abnor... ORPHA:101075
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Mandibular prognathia, Dental malocclusion, High palate, Dysphagia, Arthrogryposis multiplex cong... OMIM:608931
Wieacker-Wolff Syndrome
Proximal placement of thumb, Short neck, Micrognathia, High palate, Narrow chest, Long philtrum, ... OMIM:314580
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
X-Linked Intellectual Disability, Cantagrel Type
Seizure, Short nose, Abnormal repetitive mannerisms ORPHA:85277
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Wide nose, Micrognathia, Postnatal growth retardation, Obesity, Intrauterine growth retardation ORPHA:254531
Pallister-Hall-Like Syndrome
Toe syndactyly, Depressed nasal bridge, Short stature, Micromelia, Micrognathia, Median cleft lip... OMIM:241800
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Bilateral tonic-clonic seizure, Choanal atresia, Chorea, EEG abnormality, Seizure, Status epilept... OMIM:613970
X-Linked Intellectual Disability, Cabezas Type
Short neck, Prominent nose, Tremor, High palate, Short philtrum, Short palm, Clinodactyly of the ... ORPHA:85293
Desbuquois Dysplasia 2
Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carina... OMIM:615777
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Narrow mouth, Deep... ORPHA:261120
Narcolepsy Type 1
Obesity ORPHA:2073
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Achondrogenesis
Severe short stature, Anteverted nares, Micromelia, Micrognathia, Short neck, Abnormal enchondral... ORPHA:932
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly o... OMIM:274000
Bardet-Biedl Syndrome 7
Depressed nasal bridge, Obesity OMIM:615984
Turnpenny-Fry Syndrome
Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m... OMIM:618371
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Laryngeal stenosis, Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joi... ORPHA:93360
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Tremor, Typ... ORPHA:2590
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Micrognathia, Inability to walk, Focal-onset seizure, Seizur... OMIM:617802
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Broad-based gait, Depressed nasal bridge, Ataxia, Tongue thrusting, Pica, Unsteady... OMIM:617865
Diamond-Blackfan Anemia 8
Growth delay, Short nose, Short stature, Wide nasal bridge OMIM:612563
Perlman Syndrome
Anteverted nares, Micrognathia, Wide nasal bridge, Seizure, Status epilepticus, Short nose, Retro... ORPHA:2849
Congenital Disorder Of Glycosylation, Type Iu
Thin upper lip vermilion, Micrognathia, Seizure, Congenital contracture, High palate, Scoliosis, ... OMIM:615042
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Short stature, Bilateral tonic-clonic seizure, Dental crowding, Short neck, Dysmetria, Gait ataxia OMIM:615031
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Seizure, Truncal obesity OMIM:300471
20Q11.2 Microduplication Syndrome
Tented upper lip vermilion, Pectus carinatum, Short palm, Clinodactyly of the 5th finger, Abnorma... ORPHA:363659
Opsismodysplasia
Abnormally ossified vertebrae, Severe short stature, Depressed nasal bridge, Tapered finger, Join... ORPHA:2746
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Achondroplasia
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... ORPHA:15
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Hyperactivity, Short stature, Small for gestational age, Micrognathia,... ORPHA:73272
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Torticollis, Short neck, Spinal rigidity, Kyphosis, Micrognathia, Flexion contracture, ... ORPHA:75840
Fanconi Anemia, Complementation Group S
Ataxia, Anteverted nares, Proximal placement of thumb, Prominent nasal bridge, Underdeveloped nas... OMIM:617883
Pseudoleprechaunism Syndrome, Patterson Type
Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyphoscoliosis, Promine... ORPHA:2976
Satb2-Associated Syndrome Due To A Pathogenic Variant
Osteopenia, Thin upper lip vermilion, Joint hypermobility, Abnormality of the hand, Micrognathia,... ORPHA:576283
Distal Deletion 10Q
Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Shor... ORPHA:96148
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Wide nose, Depressed nasal bridge, Anteverted nares, Short stature, Small for gestational age, Po... ORPHA:96184
Dysostosis, Stanescu Type
Persistent open anterior fontanelle, Micromelia, Short neck, Hypoplasia of the maxilla, Increased... ORPHA:1798
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Short stature, Infantile spasms, Oral-... ORPHA:208447
Hyperphosphatasia-Intellectual Disability Syndrome
Mandibular prognathia, Tented upper lip vermilion, Short neck, Micrognathia, Downturned corners o... ORPHA:247262
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, EEG abnormality, Seizure, Myoclonus, Atypical abse... OMIM:617391
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Shor... OMIM:616723
Winchester Syndrome
Arthropathy, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis,... OMIM:277950
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Craniosynosto... ORPHA:171839
Smith-Mccort Dysplasia 2
Mandibular prognathia, Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, B... OMIM:615222
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... OMIM:619827
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Obesity, Type II diabetes mellitus, Hypercholesterolemia, Hepatic steatosis OMIM:615703
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... OMIM:613330
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge OMIM:200130
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Micrognathia, Carious teeth, Kyphosis, Open bite, Reduced bone mineral dens... ORPHA:2617
Cortical Malformations, Occipital
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hyperinsulinemic hypoglycemia OMIM:606762
Congenital Insensitivity To Pain With Severe Intellectual Disability
Pain insensitivity, Osteomyelitis, Bilateral tonic-clonic seizure, Rocker bottom foot, Recurrent ... ORPHA:453510
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Micrognathia, Underdeveloped nasal alae, Kyphosis, Deep philtrum, Pectus excavatum, Depressed nas... ORPHA:77300
Weaver Syndrome
Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Accelerated skel... OMIM:277590
Ehlers-Danlos Syndrome, Classic-Like, 2
Hallux valgus, Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Facet joint arthrosis, S... OMIM:618000
Nestor-Guillermo Progeria Syndrome
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro... OMIM:614008
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspondyly, A... ORPHA:90653
Kabuki Syndrome 2
Joint laxity, Natal tooth, Short stature, Micrognathia, Broad nasal tip, Postnatal growth retarda... OMIM:300867
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythmia OMIM:613722
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Thoracic scoliosis, Short neck, Micrognathia, Generalized joint laxity, Th... ORPHA:508498
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Micrognathia, Deep philtrum, Downturned corners of mouth, Compulsive behaviors, Bifid uvula, Long... ORPHA:404440
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Generalized myoclonic seizure, Abnormal ... OMIM:616341
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... OMIM:253010
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, Mental deterioration, EEG with focal spikes, Focal... ORPHA:140927
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypergonadotropic hypogonadism, Polyphagia, Decreased response to growth hormo... OMIM:606407
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp... OMIM:215150
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Kyphoscoliosis, Short neck, Micrognathia, Prominent nasal bridge, U... OMIM:277720
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Short attention span, Scapular winging, Joint laxity, Impulsivity, Hyperlordosis, Mic... ORPHA:73223
C Syndrome
Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Short metacarpal, An... OMIM:211750
Acromesomelic Dysplasia 4
Mandibular prognathia, Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Sho... OMIM:619636
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Abnormal form of the ver... ORPHA:2769
Noonan Syndrome 4
Pectus excavatum of inferior sternum, Depressed nasal bridge, Short stature, Short neck, Pectus e... OMIM:610733
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Short neck, Micrognathia, Tracheobroncho... OMIM:613458
Developmental And Epileptic Encephalopathy 24
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto... OMIM:615871
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Chorea, Focal-onset seizure, Gait ... OMIM:618917
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... OMIM:272460
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Single transverse palmar crease, Short neck, Micrognathia, Hemivertebrae,... ORPHA:96121
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Pectus carinatum, High palate, ... ORPHA:192
Wiedemann-Steiner Syndrome
Accelerated skeletal maturation, High palate, Low frustration tolerance, Clinodactyly of the 5th ... ORPHA:319182
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... ORPHA:228402
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, High palate... OMIM:268305
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Broad hallux phalanx, Narrow nasal bridge, Toe syndactyly, Short stature, ... ORPHA:3082
Temple Syndrome
Wide nose, Depressed nasal bridge, Anteverted nares, Short stature, Small for gestational age, Ov... OMIM:616222
Late-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circulating... ORPHA:556037
X-Linked Intellectual Disability, Shashi Type
Seizure, Bulbous nose, Obesity ORPHA:85286
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, High palate, Premature loss of teet... OMIM:102500
Kbg Syndrome
Tented upper lip vermilion, Single transverse palmar crease, Short neck, Widely-spaced maxillary ... OMIM:148050
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... ORPHA:536467
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor... OMIM:277300
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Kyphosis, Small hand, Dysphagia, Short foot, Seizure, Ankle clonus, Focal impai... OMIM:617435
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Decreased compound muscle action potential amplitude, Flexion contract... OMIM:618323
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Depressed nasal bridge, Bilateral tonic-clonic seizure, Infantile spasms, Underdeveloped nasal al... ORPHA:457351
Even-Plus Syndrome
Epiphyseal dysplasia, Severe short stature, Short neck, Bifid nasal tip, Vertebral clefting, Depr... OMIM:616854
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Xerostomia, Obesity, Absen... ORPHA:398079
Smith-Mccort Dysplasia 1
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... OMIM:607326
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Tented upper lip vermilion, Kyphosis, Metaphyseal widening, Bul... OMIM:618476
Chromosome 3Pter-P25 Deletion Syndrome
Micrognathia, Downturned corners of mouth, High palate, Prominent metopic ridge, Anteverted nares... OMIM:613792
Kinsship Syndrome
Mandibular prognathia, Osteopenia, Single transverse palmar crease, Short neck, Micrognathia, Dow... OMIM:619297
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Bilateral tonic-clonic seizure, Limb ataxia, Gait ataxia, Growth delay OMIM:614322
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Single transverse palmar crease, Prominent nasal bridge, Short neck, Kyphosis, Flexion contractur... ORPHA:178148
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Mandibular prognathia, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, EEG wit... ORPHA:98794
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Short nose, Seizure, Anteverted nares ORPHA:228384
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Acrofacial Dysostosis, Catania Type
Microretrognathia, Finger syndactyly, Brachydactyly, Short stature, Abnormality of the dentition,... ORPHA:1786
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... OMIM:609813
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Dystonia OMIM:618425
Frontometaphyseal Dysplasia 2
Subglottic stenosis, Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatars... OMIM:617137
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Short stature, Depressed nasal bridge, Abnormal rib morphology, Wide n... ORPHA:1513
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Single transverse palmar crease, Short neck, Micrognathia, Knee flexi... OMIM:114300
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, Inability to walk, Seizure, Short nose, Abnormal repeti... OMIM:613443
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Anteverted nares, Bilateral tonic-clonic seizure, Broad nasal tip, Tremor, Osteoporos... ORPHA:529665
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Short stature, Tremor, EEG abnormality, Dystonia, General... OMIM:617836
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Postnatal growth retardation, Intrauterine growth retardation, Obesity, Micrognathia ORPHA:254525
Hamamy Syndrome
Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Ante... OMIM:611174
Flynn-Aird Syndrome
Ataxia, Impaired pain sensation, Carious teeth, Kyphosis, Joint stiffness, EEG abnormality, Seizu... ORPHA:2047
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Anteverted nares, Depressed nasal bridge, Dental crowding, Micrognathia, Impaired pain sensation,... OMIM:619005
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Abnormal curvature of the vertebral column, Compulsive behaviors, Abnormality of... ORPHA:353281
Chondrodysplasia Punctata 1, X-Linked Recessive
Short stature, Depressed nasal bridge, Anosmia, Short nose, Short nasal septum OMIM:302950
Diaphanospondylodysostosis
Absent in utero ossification of vertebral bodies, Short neck, Micrognathia, Depressed nasal ridge... OMIM:608022
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor... OMIM:271980
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Micrognathia, Gait ataxia, Pectus carinatum, Seizure, Hip dysplasia, Scoli... ORPHA:496790
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, EEG ... ORPHA:163681
Thanatophoric Dysplasia Type 2
Depressed nasal bridge, Short stature, Micromelia, Kyphosis, Limitation of joint mobility, Short ... ORPHA:93274
Koolen-De Vries Syndrome
High, narrow palate, Vertebral segmentation defect, Microdontia, Thick nasal alae, Vertebral fusi... ORPHA:96169
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Hypoplasia of the zygomatic bone, Short nose, Depressed nasal bridge, Short stature ORPHA:2835
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Wide nose, Anteverted nares, Short stature, Aggressive behavior, Obesity, Seizure OMIM:619056
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Depressed nasal bridge, Choanal atresia, Missing ribs, Short neck, Short statur... OMIM:619859
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul... OMIM:607876
Cornelia De Lange Syndrome 5
Proximal placement of thumb, Short neck, Micrognathia, Downturned corners of mouth, High palate, ... OMIM:300882
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Tented upper lip vermilion, Bilateral tonic-clonic seizure, Short stature, Broad nasal tip, Wide ... OMIM:614207
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Long palm, Prominent nasal bridge, Hypoplasia of the maxilla, Kyphosis, Pe... OMIM:300676
Juberg-Hayward Syndrome
Wide nose, Toe syndactyly, Severe short stature, Short thumb, Hypoplasia of the radius, Abnormal ... ORPHA:2319
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Pterygium Colli, Isolated
Short nose OMIM:177990
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Micrognathia, Seizure, Short nose, Failure to thrive ORPHA:1895
Chromosome 16P13.3 Deletion Syndrome, Proximal
Prominent nose, Micrognathia, Obesity, Seizure, Failure to thrive, Convex nasal ridge, Low hangin... OMIM:610543
Rhizomelic Limb Shortening With Dysmorphic Features
Micrognathia, Rhizomelia, Wide nasal bridge, Obesity OMIM:618821
Wiedemann-Steiner Syndrome
Micrognathia, Accelerated skeletal maturation, High palate, Clinodactyly of the 5th finger, Short... OMIM:605130
Rhizomelic Chondrodysplasia Punctata, Type 1
Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomelia, Depress... OMIM:215100
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Micrognathia, High, narrow palate, Flexion contracture, Knee flexion... ORPHA:536516
Opsismodysplasia
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... OMIM:258480
Macrocephaly-Intellectual Disability-Autism Syndrome
Seizure, Short nose, Depressed nasal bridge, Attention deficit hyperactivity disorder ORPHA:210548
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity, Recurrent sinusitis OMIM:300310
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Kyphosis, Impaired proprioception, Pectus carinatum, Joint hyperfle... ORPHA:319199
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:610021
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Kyphosis, Pectus carinatum, Joint hyperflexibility, Upper limb hype... OMIM:614898
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... OMIM:620145
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Upper limb amyotrophy, Distal sensory impairment, Talipes equinovarus, Scoliosis OMIM:617087
Nicolaides-Baraitser Syndrome
Enlarged joints, Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Sh... OMIM:601358
Early-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circulating... ORPHA:556030
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress... ORPHA:1529
Difference Of Sex Development-Intellectual Disability Syndrome
Short neck, Kyphosis, Short thorax, Genu valgum, Downturned corners of mouth, Reduced bone minera... ORPHA:2983
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Short stature, Kyphoscoliosis, Osteoarthritis, Generalized jo... ORPHA:85198
Osteoglophonic Dysplasia
Mandibular prognathia, Osteopenia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... OMIM:166250
Cockayne Syndrome A
Mandibular prognathia, Prominent nose, Tremor, Ivory epiphyses of the phalanges of the hand, Squa... OMIM:216400
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Generalized-onset seizure, Tented upper lip vermilion, Rocker botto... OMIM:617527
Filippi Syndrome
Single transverse palmar crease, Underdeveloped nasal alae, 2-4 toe syndactyly, Postnatal growth ... OMIM:272440
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... OMIM:607323
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... ORPHA:1452
Den Hoed-De Boer-Voisin Syndrome
EEG with focal spike waves, Yellow-brown discoloration of the teeth, Abnormal repetitive manneris... OMIM:619229
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Depressed nasal bridge, Short stature, Obesity, Enamel hypoplasia OMIM:612463
O'Donnell-Luria-Rodan Syndrome
Aggressive behavior, Tapered finger, Kyphosis, Self-injurious behavior, Seizure, Skin-picking OMIM:618512
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Short stature, Micro... OMIM:613604
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Flexion contracture, Downturned corners ... ORPHA:487796
Secondary Short Bowel Syndrome
Cholestasis, Central hypothyroidism, Weight loss, Primary hypothyroidism, Steatorrhea, Failure to... ORPHA:95427
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Cleft lip, Spinal canal stenosi... ORPHA:1724
Fetal Alcohol Syndrome
Thin upper lip vermilion, Anteverted nares, Short stature, Micrognathia, Joint stiffness, Non-mid... ORPHA:1915
Crisponi/Cold-Induced Sweating Syndrome 1
Short neck, Micrognathia, Opisthotonus, High palate, Short palm, Anteverted nares, Depressed nasa... OMIM:272430
Polymicrogyria, Bilateral Perisylvian, X-Linked
Cognitive impairment, Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence se... OMIM:300388
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Patellar hypoplasia, Dysmetria, Hand tremor, Thoracic ky... ORPHA:3041
Episodic Ataxia, Type 5
Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Truncal ataxia, Myoclonus, Atypi... OMIM:613855
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, R... ORPHA:583
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Bifi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Bifi... ORPHA:352665
Weismann-Netter Syndrome
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... OMIM:112350
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus OMIM:613721
Thanatophoric Dysplasia
Depressed nasal bridge, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphos... ORPHA:2655
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent... OMIM:119600
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Ataxia, Depressed nasal bridge, Short stature, Coxa valga, Micrognath... OMIM:619833
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Cutaneous finger syndactyly, High palate, Bifid... OMIM:211380
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vertebral fusion, Short stature, Abnormal dental enamel morphology, Macrod... ORPHA:2916
Ohdo Syndrome
Joint laxity, Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Wide nasal b... OMIM:249620
Auriculocondylar Syndrome 1
Dental crowding, Micrognathia, Narrow mouth, Ankylosis, Dental malocclusion, Cleft palate, Anteri... OMIM:602483
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Short neck, Micrognathia, Hypoplasia of the maxilla, Hem... OMIM:213980
Blomstrand Lethal Chondrodysplasia
Micrognathia, Accelerated skeletal maturation, Narrow chest, Neonatal short-limb short stature, D... ORPHA:50945
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial... ORPHA:1427
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Hyperactivity, Obesity ORPHA:397973
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, High palate, Short philtrum, Limb dystonia, Tapered finger, Focal hemiclonic s... OMIM:616973
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... OMIM:154780
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Generalized dystonia, Ataxia, Bilateral tonic-clonic seizure, Multifoc... OMIM:272300
Atelosteogenesis Type Ii
Laryngeal stenosis, Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalaci... ORPHA:56304
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... ORPHA:168549
Summitt Syndrome
Wide nose, Depressed nasal ridge, Obesity, Tall stature ORPHA:3210
Intellectual Developmental Disorder, Autosomal Recessive 5
Broad-based gait, Short stature, Prominent nasal bridge, Small for gestational age, Underdevelope... OMIM:611091
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Hyperactivity, Rhi... ORPHA:239
Adenylosuccinase Deficiency
Hyperactivity, Anteverted nares, Aggressive behavior, Inability to walk, Gait ataxia, Growth dela... OMIM:103050
Bethlem Myopathy 2
Scapular winging, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Scoliosis OMIM:616471
Chromosome 10Q26 Deletion Syndrome
Congenital hip dislocation, Single transverse palmar crease, Short neck, Micrognathia, Prominent ... OMIM:609625
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short stature, Kyphosis, Reduced bone mineral density, Pectus carinatum, Delayed ossification of ... OMIM:618392
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Thin upper lip vermilion, Bilateral tonic-clonic seizure, Tonic seizure, EEG with burst suppressi... OMIM:617290
Trigonocephaly 1
Craniosynostosis, High, narrow palate, Wide nasal bridge, Lumbar hemivertebrae, Metopic synostosi... OMIM:190440
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postaxial polydactyly, Short... OMIM:617102
Diabetes Mellitus, Permanent Neonatal, 2
Prominent metopic ridge, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with foca... OMIM:618856
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Kyphosis, Tremor, Scoliosis ORPHA:101078
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure... OMIM:611726
Al-Raqad Syndrome
Inability to walk, Short nose, Seizure, Gait ataxia OMIM:616459
Dentici-Novelli Neurodevelopmental Syndrome
Thin upper lip vermilion, Epileptic spasm, Bilateral tonic-clonic seizure, Prominent nasal bridge... OMIM:619877
Greenberg Dysplasia
Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Pa... OMIM:215140
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Overlapping toe, Short stature, Short neck, Pectus excavatum, Cleft lip, Bulbo... OMIM:618571
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Narrow chest, Neonatal short-limb short stature, Severe limb shortening, ... OMIM:151210
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Tented upper lip vermilion... ORPHA:521426
Gorlin Syndrome
Mandibular prognathia, Vertebral fusion, Arachnodactyly, Palmar pits, Carious teeth, Hemivertebra... ORPHA:377
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Accelerated skeletal maturation... OMIM:614753
13Q12.3 Microdeletion Syndrome
Hyperactivity, Short stature, Underdeveloped nasal alae, Obesity, Low insertion of columella, Int... ORPHA:412035
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Impulsivity, Precocious puberty, Flexion contracture, Xerostomia, Increased b... ORPHA:398069
Aminoacylase 1 Deficiency
Seizure, Hyperactivity, Bilateral tonic-clonic seizure, Wide nasal bridge OMIM:609924
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Dysmetria, Gait ataxia, Gen... OMIM:618090
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Sandal gap, Broad hallux, Persistence of primary teeth, Conical tooth, Dental malo... OMIM:618727
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Down-sloping shoulders, Micrognathia, Short neck... OMIM:301091
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Generalized-onset seizure, Micrognathia, High palate, Short philtrum, Compulsive behaviors, Clino... OMIM:618443
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Bulbous nose, Obesity OMIM:300238
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Ataxia, Short stature, Tapered finger, Micrognathia, Kyphosis, Wide nasal bridge, EEG... ORPHA:2479
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Morm Syndrome
Truncal obesity, Hyperactivity, Aggressive behavior ORPHA:75858
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Dental crowding, Clinodactyly, Downturned corners of mouth, Short philtrum, Widely spaced teeth, ... OMIM:301044
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... OMIM:313400
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Progressive neurologic deterioration, Tremor, Dy... ORPHA:254881
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Myoclonic absence seizure OMIM:612621
Grant Syndrome
Joint dislocation, Bowing of the long bones, Depressed nasal bridge, Short stature, Micrognathia,... ORPHA:2097
Spondyloepimetaphyseal Dysplasia, Irapa Type
Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin... ORPHA:93351
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Seizure, Scoliosis OMIM:617404
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Mandibular prognathia, Ataxia, Single transverse palmar crease, Kyphosis, Seizure, Scoliosis OMIM:300861
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Micrognathia, Increased ver... OMIM:616817
Xp22.13P22.2 Duplication Syndrome
Mandibular prognathia, Short stature, Broad nasal tip, Recurrent upper respiratory tract infectio... ORPHA:284180
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Short stature, Bulbous nose, Abdominal obesity, Intrauterine growth re... OMIM:300869
Megalencephaly
Truncal obesity, Wide nasal bridge ORPHA:2477
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Pectus... OMIM:178110
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Abnormal dental enamel morphology, Obesity, Delayed puberty, Polyphagia ORPHA:251004
Cerebellar Atrophy, Developmental Delay, And Seizures
EEG abnormality, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Micrognathia, Decreased nerve conduction velocity, Unsteady gait, Seizure, Short nose OMIM:256600
Oculodentodigital Dysplasia
Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormal form of the vertebral... ORPHA:2710
Warburg Micro Syndrome 3
Bilateral tonic-clonic seizure, Kyphoscoliosis, Micrognathia, Postnatal growth retardation, Flexi... OMIM:614222
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... OMIM:224300
Short Syndrome
Delayed eruption of teeth, Enlarged epiphyses, Joint laxity, Micrognathia, Underdeveloped nasal a... OMIM:269880
3Q29 Microdeletion Syndrome
Dental crowding, Prominent nasal bridge, Tapered finger, Aggressive behavior, Abnormality of the ... ORPHA:65286
Al Kaissi Syndrome
Thin upper lip vermilion, Sacral dimple, Torticollis, Depressed nasal bridge, Short stature, Macr... OMIM:617694
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Antev... ORPHA:2311
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Gm1 Gangliosidosis
Mandibular prognathia, Tremor, Depressed nasal ridge, Abnormal form of the vertebral bodies, Atax... ORPHA:354
Retinitis Pigmentosa
Anteverted nares, Wide nasal bridge, Obesity ORPHA:791
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Ataxia, Anteverted nares, Kyphoscoliosis, Dental crowding, Bulbous nos... OMIM:616354
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Neurodevelopmental Disorder With Involuntary Movements
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Multifocal epileptiform disch... OMIM:617493
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... OMIM:130060
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Ataxia, Inability to walk, Multifocal epileptiform discharges, Dysmetria, ... OMIM:618087
Fountain Syndrome
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Short sta... ORPHA:3219
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Nail-biting, Hyperactivity, Tapered finger, High, narrow palate, Bulbous nose, 2-3... ORPHA:485405
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Anteverted nares, Single transvers... ORPHA:444072
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Kyphosis, Wi... OMIM:259420
Gm1-Gangliosidosis, Type Iii
Dystonia, Ataxia, Short stature, Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior ... OMIM:230650
Smith-Magenis Syndrome
Mandibular prognathia, Hyperactivity, Short stature, Self hugging, Wide nasal bridge, Head-bangin... OMIM:182290
Ceroid Lipofuscinosis, Neuronal, 3
Psychomotor deterioration, Bilateral tonic-clonic seizure, Seizure, Dementia, Myoclonus OMIM:204200
Kleefstra Syndrome 2
Kyphosis, Growth delay, Self-injurious behavior, Seizure, Everted lower lip vermilion, Scoliosis,... OMIM:617768
Roifman Syndrome
Hip contracture, Short metacarpal, Biconvex vertebral bodies, Anteverted nares, Single transverse... OMIM:616651
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose OMIM:137550
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depres... ORPHA:87
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Increased body weight, Hyperhidrosis, Agitation, Pancreatic islet-cell hyperpla... ORPHA:276608
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hypoplasia of the nasal bone, Moderate postnatal growth retardation, Knee flexio... OMIM:118650
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:312150
Laron Syndrome
Delayed eruption of teeth, Aplasia/Hypoplasia involving the nose, Hypoplastic nasal bridge, Sever... ORPHA:633
Rett Syndrome
Dystonia, Short stature, Abnormality of the dentition, Kyphosis, Bruxism, Gait ataxia, Short foot... OMIM:312750
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Glosso... ORPHA:94068
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Arachnodactyly, Abnormality of the dentition, Joint stiffness, Kyphosis, Delayed skeletal maturat... ORPHA:1548
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Short neck, Kyphosis, Delayed skeletal maturation, Hip dislocation, Wide ... OMIM:608776
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Severe short stature, Missing ribs, Short neck, Hemivertebrae, D... OMIM:122600
Bruck Syndrome 1
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... OMIM:259450
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Barrel-shaped chest, Short metacarpal, Enlarged joints, Rhizomelia, Ky... ORPHA:263463
Prader-Willi Syndrome Due To Translocation
Short neck, Micrognathia, Prominent nose, Downturned corners of mouth, High palate, Compulsive be... ORPHA:177907
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Pectus carinatum, Downturn... ORPHA:1507
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Pectus carinatum, High palate... ORPHA:93315
Hypomelanosis Of Ito
Syndactyly, Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Seizure, Hand polydact... OMIM:300337
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Short nose OMIM:300581
Microtriplication 11Q24.1
Wide nose, Short stature, Obesity, Seizure, Bruxism ORPHA:289522
Congenital Heart Defects And Skeletal Malformations Syndrome
Smooth philtrum, Arachnodactyly, Sandal gap, Short stature, Dental crowding, Long nose, Kyphosis,... OMIM:617602
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Short stature, Prominent nasal bridge, Proximal placement of thumb, Short n... ORPHA:251071
Radio-Tartaglia Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Ataxia, Aggressive behavior, Im... OMIM:619312
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Resting tremor, Dystonia, Ataxia, Kyphoscoliosis, Short neck, Micrognathia, Tremor,... OMIM:300055
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Kyphosis, Impaired vibration sensation in the lower limbs, Hand tre... OMIM:614409
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:199306
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Compulsiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Compulsiv... ORPHA:353277
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... OMIM:618357
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, Sp... OMIM:118100
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... OMIM:609616
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
X-Linked Intellectual Disability, Hedera Type
Bilateral tonic-clonic seizure, Calcaneovalgus deformity, Dysmetria, Scoliosis, Hyporeflexia of u... ORPHA:93952
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Short stature, Camptodactyly of finger, Prominent nasal bridge, Short neck, Micro... ORPHA:3409
Cole-Carpenter Syndrome
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Short stature, Abnormal... ORPHA:2050
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Limitation of movement at ankles, Postural tremor, Bilateral tonic-... ORPHA:100988
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Severe short stature, Bilateral tonic-clonic seizure, Distal clavicular thinnin... OMIM:600092
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism ORPHA:88643
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Rocker bottom foot, Exaggerated cupid's bow, Wide mouth, Delayed eruption of pe... OMIM:618506
Lissencephaly 3
Seizure, Generalized tonic seizure, Ataxia, Bilateral tonic-clonic seizure OMIM:611603
Microcephaly-Capillary Malformation Syndrome
Wide nose, Short stature, Small for gestational age, Infantile spasms, Hypoplasia of the maxilla,... OMIM:614261
Mercaptolactate-Cysteine Disulfiduria
High, narrow palate, High palate, Depressed nasal bridge, Bilateral tonic-clonic seizure OMIM:249650
Angelman Syndrome
Mandibular prognathia, Hyperactivity, Ataxia, Tongue thrusting, Obesity, Seizure, EEG abnormality... ORPHA:72
Oculodentodigital Dysplasia
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Prematur... OMIM:164200
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Dysdiadochokinesis, ... OMIM:614487
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Trisomy 10P
Micrognathia, Hemivertebrae, Orofacial cleft, EEG with focal spikes, High palate, Abnormal hip jo... ORPHA:171929
Stickler Syndrome, Type I
Arthropathy, Micrognathia, Osteoarthritis, Bifid uvula, Arachnodactyly, Anteverted nares, Depress... OMIM:108300
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Alazami Syndrome
Wide nose, Abnormal eating behavior, Postnatal growth retardation, Wide mouth, Slender long bone,... ORPHA:319671
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Short neck, Micrognathia, Hemivertebrae, Orofacial cleft, Pectus ca... ORPHA:958
Multiple Epiphyseal Dysplasia Type 5
Back pain, Abnormal upper limb epiphysis morphology, Delayed proximal femoral epiphyseal ossifica... ORPHA:93311
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Intrauterine growth retardation, Short nose, Depressed nasal bridge OMIM:616910
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Genu recurvatum, Short stature, Reduced bone mineral density, Downturned corner... ORPHA:1185
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Short stature, Coxa... OMIM:616716
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Micrognathia, Retrognathia, Seizure, Dysphagia, Short nose, Thick nasal alae ORPHA:163961
Multiple Synostoses Syndrome 2
Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Ta... OMIM:610017
Distal 16P11.2 Microdeletion Syndrome
Seizure, Prominent nasal bridge, Attention deficit hyperactivity disorder, Obesity ORPHA:261222
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Disproportionate short-limb short stature OMIM:618618
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Prominent nasal bridge, Bulbous nose, Agitation, Status epilepticus, Short nose OMIM:613870
Cockayne Syndrome B
Mandibular prognathia, Tremor, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, ... OMIM:133540
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Ta... OMIM:600175
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Postnatal growt... OMIM:179613
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Anteverted nares, Short stature, Short neck, Postnatal growth retardati... OMIM:243310
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Arachnodactyly, Camptodactyly of finger, Short stature, Carious teeth, Kyphosis, Joint contractur... ORPHA:1883
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Bilateral tonic-clonic seizure, Dystonia OMIM:104290
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Short stature, Short neck,... ORPHA:884
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... OMIM:612394
Zimmermann-Laband Syndrome 2
Short stature, Underdeveloped nasal alae, Bifid nasal tip, Kyphosis, Short neck, Deep philtrum, G... OMIM:616455
Arthrogryposis, Distal, Type 4
Osteopenia, 2-5 finger cutaneous syndactyly, Torticollis, Depressed nasal bridge, Single transver... OMIM:609128
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus, Dystonia ORPHA:139406
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... ORPHA:90793
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased circulating free fatty acid level, Large for gestational age, Abnormal circulating insu... ORPHA:293964
Developmental And Epileptic Encephalopathy 37
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Chorea, Choreoathe... OMIM:616981
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Pontocerebellar Hypoplasia, Type 14
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Myoclonic seizure, Dystonia OMIM:619301
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Microg... OMIM:255800
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Clonic seizure, Gait ataxia, Choreoathetosis, Myoclonic seizure, Opisthotonus, Abnormal repetitiv... OMIM:619580
15Q24 Microdeletion Syndrome
Joint laxity, Depressed nasal bridge, Prominent nasal bridge, Proximal placement of thumb, Short ... ORPHA:94065
Faciocardiomelic Syndrome
Osteopenia, Dysharmonic bone age, Anteverted nares, Depressed nasal bridge, Micrognathia, Cuboid-... OMIM:612731
Severe X-Linked Intellectual Disability, Gustavson Type
Small for gestational age, Micrognathia, Recurrent upper respiratory tract infections, Severe pos... ORPHA:3078
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... ORPHA:90652
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Inability to walk, Bulbous nose, Seizure, Short nose, Failure to thrive OMIM:616420
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Anteverted nares, Impulsivity, Broad nasal tip, Recurrent upper respiratory tract infections, Inc... ORPHA:589905
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Focal-onset seizure, Chorea, EEG abnormality, Self-injurious behavior, Convulsive status epilepti... OMIM:618760
Sialidosis Type 2
Ataxia, Short stature, Tremor, Kyphosis, Flexion contracture, Osteoporosis, Short thorax, Pectus ... ORPHA:87876
Non-Distal Duplication 13Q
Arachnodactyly, Micrognathia, Abnormality of the dentition, Postaxial hand polydactyly, Thin verm... ORPHA:1702
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... OMIM:601812
Severe Neonatal-Onset Encephalopathy With Microcephaly
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Growth delay, Seizure, EEG wi... ORPHA:209370
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Bilateral single transverse palmar creases, Micromelia, Short neck, EEG abnorma... ORPHA:50810
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Melnick-Needles Syndrome
Micrognathia, Narrow chest, Anisospondyly, Short stature, Short thorax, Abnormal rib morphology, ... ORPHA:2484
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure, Foot joint contracture, Decreased nerve conduction velocity, EEG ... ORPHA:457205
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Micromelia, Flexion contracture, Wide nasal bridge, Sei... OMIM:610015
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Rhizomelia, Anteverted nares, Micromelia, Micrognathia, Elbow ... ORPHA:93329
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Postnatal growth retardation, Intrauterine growth retardation, Short nose, Depressed nasal bridge OMIM:614732
Developmental And Epileptic Encephalopathy 47
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Multifocal epileptifo... OMIM:617166
Fibrosis Of Extraocular Muscles, Congenital, 3C
Pectus excavatum, Kyphosis, Thin upper lip vermilion OMIM:609384
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Anteverted nares, Choanal atresia, Craniosynostosis, Rec... ORPHA:83
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Bulimia, Obesity OMIM:614651
Bainbridge-Ropers Syndrome
Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge... OMIM:615485
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Wide nasal bridge, Hypsarrhythmia, Seizure, Short nose OMIM:618437
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Prominent nasal bridge, Wide nasal bridge, Seizure, Febrile seizure (within the ag... OMIM:619179
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Myoclonic Epilepsy, Familial Infantile
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Gait ataxia, Seizure, G... OMIM:605021
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Bulbous nose, Supernumerary tooth, Tongue... OMIM:258850
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... OMIM:254770
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Severe short stature, Abnormal dental enamel morphology, Prominent nose, Joint... ORPHA:1005
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fontanel, Seizure, Hig... OMIM:219200
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Epileptic spasm, Prominent metopic ridge, Anteverted nares, Depressed nasal bridge, Bilateral ton... ORPHA:314655
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Mandibular prognathia, Obesity OMIM:606772
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Short stature, Bilateral tonic-clonic seizure, Myoclonus, Dystonia OMIM:619065
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Long palm, Arachnodactyly, Choanal atresia, Missing ribs, Abnormality of the philtrum, Aplasia/Hy... ORPHA:2759
3C Syndrome
Finger syndactyly, Depressed nasal bridge, Short stature, Short neck, Missing ribs, Kyphosis, Mic... ORPHA:7
Cerebrofaciothoracic Dysplasia
Wide nose, Short stature, Short neck, Cleft upper lip, Hemivertebrae, Rib fusion, Cleft palate, S... ORPHA:1394
Early Infantile Epileptic Encephalopathy
Tremor, Choreoathetosis, Hyperactivity, Anteverted nares, Depressed nasal bridge, EEG with burst ... ORPHA:1934
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Oral-pharyngeal dysphagia, Long nose, Oligodontia, Short palm, Thick vermilion b... OMIM:619184
Intellectual Disability-Strabismus Syndrome
Short neck, Micrognathia, Prominent nose, High palate, Hyperactivity, Depressed nasal bridge, Sho... ORPHA:363528
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Depression, Seizure, Dementia, Progre... ORPHA:79264
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia OMIM:612469
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... ORPHA:739
Sjögren-Larsson Syndrome
Short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Seizure, Scoliosis ORPHA:816
Pontocerebellar Hypoplasia, Type 15
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Myoclonic seizure, Dystonia OMIM:619302
Marshall-Smith Syndrome
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,... ORPHA:561
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Short stature, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of th... ORPHA:77258
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Depressed ... ORPHA:175
Wieacker-Wolff Syndrome, Female-Restricted
Microretrognathia, Hip contracture, Radial deviation of the hand, Anteverted nares, Rocker bottom... OMIM:301041
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Overlapping toe, Abnormality of the dentition, Long nose, Carious teeth, Thin lower lip vermilion... ORPHA:363444
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Tetrasomy 5P
Overlapping toe, Anteverted nares, Short hallux, Short neck, Micrognathia, Long fingers, Postnata... ORPHA:3309
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Hyperlordosis, Pectus excavatum, Kyphosis, Achilles tendon con... OMIM:615290
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Hypoplast... OMIM:607778
Narcolepsy 7
Narcolepsy, Type II diabetes mellitus, Obesity OMIM:614250
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Wide nose, Congenital hip dislocation, Limited elbow movement, Kyphoscoliosis, Pro... OMIM:300280
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:253290
Fetal Trimethadione Syndrome
Depressed nasal bridge, Micrognathia, High palate, Scoliosis, Intrauterine growth retardation, Sh... ORPHA:1913
Nephronophthisis 15
Seizure, Obesity OMIM:614845
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Short stature, Underdeveloped nasal alae, Postnatal growth retardation, Microgn... OMIM:613026
48,Xxyy Syndrome
Delayed eruption of teeth, Broad jaw, Ataxia, Abnormal dental enamel morphology, Carious teeth, O... ORPHA:10
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Truncal obesity, Gait disturbance, Short stature ORPHA:2928
Chromosome 16Q22 Deletion Syndrome
Prominent metopic ridge, Broad hallux, Single transverse palmar crease, Depressed nasal bridge, M... OMIM:614541
Marden-Walker Syndrome
Short neck, Micrognathia, High, narrow palate, Congenital contracture, Abnormal sternum morpholog... OMIM:248700
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Thin upper lip vermilion, Everted upper lip vermilion, Bilateral tonic-clonic seizure, Micrognath... OMIM:618381
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior OMIM:309530
Mesomelic Dysplasia, Kantaputra Type
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r... ORPHA:1836
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Short stature, Spinal instability OMIM:251250
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Congenital hip dislocation, Ataxia, Bilateral tonic-clonic seizure, Dystonia, Micrognathia, Pectu... ORPHA:496641
Saul-Wilson Syndrome
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... OMIM:618150
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Growth de... OMIM:614069
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
Roifman Syndrome
Narrow nasal bridge, Hip contracture, Brachydactyly, Epiphyseal dysplasia, Biconvex vertebral bod... ORPHA:353298
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Joint stiffness, Hypop... ORPHA:1860
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Equinus calcaneus, Chorea, Self-biting, Choreoathetosis, Abnormal repetitive mannerisms, Self-mut... ORPHA:522077
Anauxetic Dysplasia 1
Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Joint laxity, Barr... OMIM:607095
Peho Syndrome
Hypsarrhythmia, Seizure, Myoclonus, Short nose, Retrognathia OMIM:260565
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... OMIM:609945
W Syndrome
Hypoplasia of the ulna, Radial bowing, Depressed nasal bridge, Bilateral tonic-clonic seizure, Br... ORPHA:2804
Joubert Syndrome 37
Wide nose, Anteverted nares, Short stature, Wide nasal bridge, Obesity OMIM:619185
Moebius Syndrome
Abnormal nasopharynx morphology, Short neck, Micrognathia, High palate, Lower limb undergrowth, S... OMIM:157900
Summitt Syndrome
Obesity OMIM:272350
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Delayed cranial suture closure, Carious teeth... ORPHA:93324
Cln3 Disease
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Myoclonic seizu... ORPHA:228346
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Seizure precipitated by febrile infection, Bilateral tonic-clonic sei... ORPHA:363558
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Rhizomelia, Depressed nasal bridge, Thoracic hypoplasia, Short proximal... OMIM:616638
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Osteopenia, Proximal placement of thumb, Short neck, Abnormal repetitive m... OMIM:212066
Mucolipidosis Iii Gamma
Short stature, Abnormality of the hand, Short neck, Flat capital femoral epiphysis, Hyperlordosis... OMIM:252605
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Aggressive behavior, Broad nasal tip, Micrognathia, Obesity, Self-injur... ORPHA:293948
Meckel Syndrome, Type 8
Short neck, Cleft upper lip, Depressed nasal ridge, Cleft palate, Polydactyly, Talipes equinovaru... OMIM:613885
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Single transverse palmar crease, Bilateral tonic-clonic seizure w... OMIM:618354
Carey-Fineman-Ziter Syndrome
Laryngeal stenosis, Anteverted nares, Short stature, Aplasia/Hypoplasia of the tongue, Micrognath... ORPHA:1358
Angelman Syndrome
Mandibular prognathia, Hyperactivity, Broad-based gait, Ataxia, Hypoplasia of the maxilla, Obesit... OMIM:105830
Diaphanospondylodysostosis
Short neck, Missing ribs, Short thorax, Cleft palate, Narrow pelvis bone, Enlarged thorax, Absent... ORPHA:66637
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Mandibular prognathia, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clo... ORPHA:98795
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Hyperlipidemia, Abdominal obesity, Hepatic steatosis OMIM:615980
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ... ORPHA:101071
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... OMIM:300106
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hyposmia, Seizure, Anosmia, Obesity OMIM:610628
9q subtelomeric deletion syndrome
Short nose, Anteverted nares DECIPHER:52
Rabin-Pappas Syndrome
Mandibular prognathia, Failure to thrive in infancy, Broad nasal tip, Micrognathia, Obesity, Wide... OMIM:620155
Spondylodysplastic Ehlers-Danlos Syndrome
Joint dislocation, Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contrac... ORPHA:536471
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Seizure, Short stature, Truncal obesity ORPHA:85280
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Ataxia, Short stature, Unsteady gait, Obesity, Loss of ambulation OMIM:618124
Renpenning Syndrome
Mandibular prognathia, Severe short stature, Macrodontia, Prominent nose, Abnormal thumb morpholo... ORPHA:3242
Pallister-Hall Syndrome
Hemivertebrae, Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxial foot polydactyly... OMIM:146510
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Trisomy 20P
Short neck, Micrognathia, Abnormal form of the vertebral bodies, Reduced bone mineral density, Do... ORPHA:261318
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... ORPHA:79137
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... ORPHA:193
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Seizure, Myoclonus, Febrile ... OMIM:612736
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... OMIM:143095
Cole-Carpenter Syndrome 2
Microretrognathia, Osteopenia, Wide cranial sutures, Short stature, Recurrent fractures, Postnata... OMIM:616294
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Severe Canavan Disease
Bilateral tonic-clonic seizure, Joint stiffness, Oral-pharyngeal dysphagia, Seizure, Irritability ORPHA:314911
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
X-Linked Intellectual Disability, Stevenson Type
Thick nasal alae, Broad columella, Tall stature, Obesity ORPHA:85325
15Q14 Microdeletion Syndrome
Short stature, Prominent nasal bridge, Abnormality of the dentition, Kyphosis, Cleft palate, Seiz... ORPHA:261190
Mucopolysaccharidosis, Type X
Spatulate ribs, Hyperlordosis, Diastema, Open bite, Broad clavicles, Disproportionate short-trunk... OMIM:619698
Centralopathic Epilepsy
Focal-onset seizure, EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure wi... OMIM:117100
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Thin upper lip vermilion, Epileptic spasm, Dystonia, Anteverted nares, Depress... OMIM:619124
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Flexio... OMIM:620369
Koolen-De Vries Syndrome
High palate, Widely spaced teeth, Prominent fingertip pads, Vertebral fusion, Hyperactivity, Prom... OMIM:610443
Autosomal Dominant Omodysplasia
Short humerus, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislocation, Patellar disl... ORPHA:93328
Masa Syndrome
Short stature, Hyperlordosis, Kyphosis, Talipes equinovarus, Adducted thumb OMIM:303350
Rett Syndrome, Congenital Variant
Thin upper lip vermilion, Dystonia, Depressed nasal bridge, Kyphosis, Chorea, Bulbous nose, Tongu... OMIM:613454
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Short stature, Micrognathia, Abnormality of the dentition, Thick lower lip vermilion, Dental malo... ORPHA:85321
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Osteopenia, Dental crowding, High palate, Microdontia, Broad ribs, Genu va... OMIM:269300
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... OMIM:269150
Combined Oxidative Phosphorylation Deficiency 54
Microretrognathia, Generalized-onset seizure, Obesity, Seizure, Intrauterine growth retardation OMIM:619737
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar... OMIM:618291
Carpenter Syndrome 2
Single transverse palmar crease, Short neck, High, narrow palate, Preaxial polydactyly, Coxa vara... OMIM:614976
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Short stature, Generalized dystonia, Femoral retroversion, Micromelia, Kyph... ORPHA:79107
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Wagr Syndrome
Short stature, Obesity, Micrognathia ORPHA:893
Monosomy 9Q22.3
Delayed eruption of teeth, Hyperactivity, Odontogenic keratocysts of the jaw, Short neck, Palmar ... ORPHA:77301
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Increased theta ... ORPHA:98784
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Eiken Syndrome
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Short stature, Abnor... ORPHA:79106
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
19P13.12 Microdeletion Syndrome
Short neck, Short palm, Clinodactyly of the 5th finger, Finger syndactyly, Hyperactivity, Antever... ORPHA:254346
Van Esch-O'Driscoll Syndrome
Sacral dimple, Depressed nasal bridge, Short stature, Impulsivity, Retrognathia, Growth delay, Se... OMIM:301030
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Thin upper lip vermilion, Depressed nasal bridge, Joint hypermobility, Long nose, Pec... OMIM:618590
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Single transverse palmar crease, Bilateral tonic-clonic seizure, Infantile spasms, Flexio... ORPHA:79243
Trisomy 12P
Short stature, Micrognathia, Short neck, Delayed skeletal maturation, Wide nasal bridge, Cleft pa... ORPHA:1699
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, Obesity OMIM:615981
Raine Syndrome
Mandibular prognathia, Micromelia, Short neck, Micrognathia, Choanal stenosis, High palate, Neona... OMIM:259775
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Single transverse palmar cre... OMIM:617425
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Hyperactivity, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Prox... ORPHA:261211
Pontocerebellar Hypoplasia, Type 10
Thin upper lip vermilion, Kyphoscoliosis, Short neck, Tapered finger, Underdeveloped nasal alae, ... OMIM:615803
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Mandibular prognathia, Depressed nasal bridge, Short stature, EEG with abnormally slow frequencie... OMIM:618493
Nabais Sa-De Vries Syndrome, Type 1
Sacral dimple, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Self-injurious behav... OMIM:618828
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Short neck, Oral-pharyngeal dysphagia, High, narrow palate, Tremor, Prominent protrud... OMIM:300966
2Q31.1 Microdeletion Syndrome
Short neck, Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, ... ORPHA:251014
Beaulieu-Boycott-Innes Syndrome
Micrognathia, Long nose, Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Low ha... OMIM:613680
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Obesity OMIM:600955
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac w... OMIM:210720
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Denta... OMIM:615560
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy... OMIM:150250
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Aggressive behavior, Bulbous nose, Seizure, Attention de... ORPHA:284169
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Thin upper lip vermilion, Pectus excavatum of inferior sternum, Depressed nasal bridge, Rocker bo... OMIM:601353
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Fibrochondrogenesis
Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Micromelia, Short neck, Depresse... ORPHA:2021
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... OMIM:112910
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Generalized-onset seizure, Depressed nasal bridge, Camptodactyly of fin... ORPHA:261236
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Bilateral tonic-clonic seizure, Rocker bottom foot, Short stature, Micrognathia, Carious teeth, T... OMIM:620070
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Short stature, Depressed nasal bridge, Anteverted nares, Severe postnatal growth retardation, Con... OMIM:613038
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Compulsive behaviors, Clino... OMIM:615873
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Short neck, Micrognathia, Glosso... OMIM:611209
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Short stature, Elbow dislocation,... OMIM:171480
Autosomal Dominant Robinow Syndrome
Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormality of the gingiva, Hemiverteb... ORPHA:3107
Cardiospondylocarpofacial Syndrome
Pseudoepiphyses, Joint laxity, Anteverted nares, Short stature, Delayed skeletal maturation, Rib ... OMIM:157800
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... OMIM:614450
Microphthalmia, Lenz Type
Delayed eruption of teeth, Finger syndactyly, Abnormal clavicle morphology, Short stature, Campto... ORPHA:568
Marbach-Schaaf Neurodevelopmental Syndrome
Depressed nasal bridge, Aggressive behavior, Broad nasal tip, Obesity, Seizure, Attention deficit... OMIM:619680
Micro Syndrome
Anteverted nares, Short stature, Micrognathia, Joint stiffness, Kyphosis, Wide nasal bridge, Seiz... ORPHA:2510
Myofibrillar Myopathy 10
Mandibular prognathia, Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture... OMIM:619040
Lowry-Maclean Syndrome
Osteopenia, Short nasal bridge, Single transverse palmar crease, Choanal atresia, Micrognathia, H... ORPHA:2409
Aymé-Gripp Syndrome
Oligodontia, Clinodactyly of the 5th finger, Prominent metopic ridge, Depressed nasal bridge, Sho... ORPHA:1272
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Short stature, Kyphoscoliosis, Hip dislocation, Wide nasal bridge, Seizure, Joint con... OMIM:618005
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor tics, Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Attention ... OMIM:619725
Baralle-Macken Syndrome
Focal-onset seizure, Inability to walk, Obesity OMIM:619255
Robinow Syndrome, Autosomal Recessive 2
Broad hallux, Sandal gap, Anteverted nares, Micrognathia, Broad nasal tip, Short stature, Cleft s... OMIM:618529
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Micrognathia, Dysphagia, Short nose OMIM:614744
Pycnodysostosis
Persistent open anterior fontanelle, Wormian bones, Short stature, Increased bone mineral density... OMIM:265800
Congenital Myopathy 17
Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Pectus excava... OMIM:618975
Trisomy 5P
Short stature, Obesity ORPHA:1742
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... ORPHA:93316
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Severe short stature, Coxa valga, Elbow dislocation, Metatarsu... ORPHA:2557
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Cockayne Syndrome
Progressive gait ataxia, Congenital contracture, Intention tremor, Ataxia, Abnormal dental morpho... ORPHA:191
Fanconi Anemia, Complementation Group I
Short stature, Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical ve... OMIM:609053
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Joint laxity, Persistent open anterior fontanelle, Arachnodactyly, Dental crowding, Narrow mouth,... OMIM:615539
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Obesity OMIM:603233
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... ORPHA:2751
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... OMIM:259600
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Palmar pits, Hemivertebrae, Abnormal sternum morphology, Vertebral fusion,... OMIM:109400
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ... OMIM:617350
Osteogenesis Imperfecta, Type Viii
Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat... OMIM:610915
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Micrognathia, 2-3 toe cutaneous syndactyly, Dysmetria, Gait ataxia, Downturned corners of mouth, ... OMIM:614756
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Generalized-onset seizure, Confusion, Focal-onset seizure, Depression, Anterior open-bite maloccl... ORPHA:83601
9Q21.13 Microdeletion Syndrome
Wide nasal ridge, Craniosynostosis, Postnatal growth retardation, Abnormal tongue morphology, Dow... ORPHA:531151
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Thin upper lip vermilion, Pectus excavatum, Small hand, Wide nasal bridge, Pectus carinatum, Wide... OMIM:614684
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Liver abscess, Cholangitis, Hypercholesterolemia, Overweight, Intrahepatic cho... ORPHA:69663
2P15P16.1 Microdeletion Syndrome
Enlarged thorax, High palate, Bilateral single transverse palmar creases, Prominent metopic ridge... ORPHA:261349
Monosomy 18P
Generalized dystonia, Short stature, Kyphoscoliosis, Micrognathia, Short neck, Carious teeth, Pec... ORPHA:1598
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, EEG abnormality, Dysdiadochokinesis,... ORPHA:313772
Chromosome 2P16.1-P15 Deletion Syndrome
High, narrow palate, Calcaneovalgus deformity, High palate, Arachnodactyly, Depressed nasal bridg... OMIM:612513
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu... OMIM:253220
Microcephalic Primordial Dwarfism, Dauber Type
Short stature, Prominent nose, Obesity, Severe postnatal growth retardation, Seizure, Severe intr... ORPHA:319675
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Scoliosis, Abnormal nerve conduction velocity ORPHA:99014
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Ataxia, Aggressive behavior, Wide anterior ... ORPHA:457279
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Short stature, Anteverted nares, Micrognathia, Short nose, Failure to thrive OMIM:242860
Holt-Oram Syndrome
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... ORPHA:392
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Micrognathia, U... ORPHA:83617
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p... OMIM:300166
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Thickened ribs, Kyphoscoliosis, Joint stiffness, Recurrent upper respiratory tract... OMIM:252930
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Cleft upper lip, Cleft palate, Growth delay, ... OMIM:244600
Sifrim-Hitz-Weiss Syndrome
Short stature, Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck... OMIM:617159
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed calcaneal ossification, ... OMIM:183900
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Truncal obesity, Abdominal obesity, Short stature OMIM:618160
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Tented upper lip vermilion, Micrognathia, High, narrow palate, Downturned corners of ... ORPHA:369837
14Q24.1Q24.3 Microdeletion Syndrome
Joint laxity, Limited elbow extension and supination, Thin upper lip vermilion, Prominent nasal b... ORPHA:401935
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Anteverted nares, Depressed nasal bridge, Bilateral tonic-clonic seizure, Micrognathia... OMIM:257300
Martsolf Syndrome 1
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu... OMIM:212720
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, High palate, Sho... OMIM:614188
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Thin upper lip vermilion, Anteverted nares, Micrognathia, Postnatal growt... OMIM:619135
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Micrognathia, Low hanging columella, Gro... OMIM:617193
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Short neck, Micrognathia, Orofacial cleft, Downturned co... OMIM:180700
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis OMIM:300718
X Small Rings
Joint laxity, Thin upper lip vermilion, Toe syndactyly, Anteverted nares, Bilateral tonic-clonic ... ORPHA:96201
Localized Scleroderma
Abnormality of the nose, Abnormality of the dentition, Flexion contracture, Dental malocclusion, ... ORPHA:90289
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Short thorax, Short long bone, Vertebral segmentation defect, Ta... OMIM:618845
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggressive beh... ORPHA:293987
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Anteverted nares, Micrognathia, Postnatal growth retardation, Metaphyseal widening, Abnormal thor... ORPHA:73230
Microform Holoprosencephaly
Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr... ORPHA:280200
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
1Q44 Microdeletion Syndrome
Prominent metopic ridge, Short stature, Bilateral tonic-clonic seizure, Exaggerated cupid's bow, ... ORPHA:238769
Multiple Pterygium-Malignant Hyperthermia Syndrome
Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomatic bone, Finger... ORPHA:2215
Focal Dermal Hypoplasia
Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short metatarsal, Oligodontia, F... OMIM:305600
Coffin-Siris Syndrome
Intrauterine growth retardation, Thick nasal alae, Joint laxity, Hyperactivity, Anteverted nares,... ORPHA:1465
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers... OMIM:309583
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Anteverted nares, Depressed nasal bridge, Micrognathia, Pectus excavatum, Kyphosis... OMIM:618272
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Large for gestational age, Obesity, Overgrowth, Short nose OMIM:605309
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Psychomotor deterioration, Congenital hip dislocation, Anteverted nares, Short stature, Delayed c... ORPHA:357074
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Short stature, Anteverted nares, Wide nasal bridge, Short nose, Failure t... OMIM:616430
Doors Syndrome
Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Downturned corners of mouth, W... ORPHA:79500
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... OMIM:600002
Bilateral Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Micrognathia, Focal-... ORPHA:268940
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Narrow nasal ridge, Micrognathia, Premature loss of teeth, Flexion contracture, ... OMIM:608612
Chops Syndrome
Anteverted nares, Short stature, High, narrow palate, Downturned corners of mouth, Long philtrum,... OMIM:616368
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... ORPHA:66624
Intellectual Developmental Disorder, Autosomal Dominant 34
Anteverted nares, Bilateral tonic-clonic seizure, 2-3 toe syndactyly, Short foot, Widely spaced t... OMIM:616351
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Flexion contracture, Femoral bowing, Choanal stenosis, Narrow chest, Abnorma... ORPHA:95699
Trisomy 9P
Sacral dimple, Bilateral single transverse palmar creases, Dental crowding, Short neck, Abnormal ... ORPHA:236
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... ORPHA:1941
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Tapered finger, Broa... OMIM:239300
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Short neck, Myoclonic seizure, High palate, Abnormal repetitive mannerisms... OMIM:620330
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Sprengel anomaly, D... OMIM:134780
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Single transverse palmar crease, Short stature, Tremor, Depressio... ORPHA:457240
Campomelic Dysplasia
Short neck, Micrognathia, Tibial bowing, Femoral bowing, Narrow chest, Hypoplastic inferior ilia,... ORPHA:140
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... ORPHA:137888
Arnold-Chiari Malformation Type I
Somatic sensory dysfunction, Stiff neck, Areflexia of upper limbs, Dysesthesia, Gait ataxia, Fuse... ORPHA:268882
Cadds
Intrauterine growth retardation, Short nose, Seizure, Micrognathia ORPHA:369942
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S... OMIM:616645
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Tented upper lip vermilion, Bilateral tonic-clonic seizure, Exaggerated startle re... OMIM:617281
Myopathy, Centronuclear, X-Linked
Arachnodactyly, Flexion contracture, Dental malocclusion, Slender toe, High palate OMIM:310400
Kleefstra Syndrome Due To 9Q34 Microdeletion
Epileptic spasm, Anteverted nares, Generalized non-motor (absence) seizure, Obesity, Growth delay... ORPHA:96147
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Depressed nasal bridge, Bilateral tonic-clonic seizure, Short stature, Short neck, Abnormality of... OMIM:615802
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Depressed nasal bridge,... ORPHA:2062
Systemic Primary Carnitine Deficiency
Confusion, Bilateral tonic-clonic seizure with focal onset ORPHA:158
Thakker-Donnai Syndrome
Anteverted nares, Short neck, Bulbous nose, Hemivertebrae, Downturned corners of mouth, Narrow mo... ORPHA:1780
Gapo Syndrome
Depressed nasal bridge, Anteverted nares, Delayed closure of the anterior fontanelle, Micrognathi... OMIM:230740
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Progressive neurologic det... OMIM:608013
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Short stature, Obesity, Seizure, Tall stature OMIM:618089
Osteogenesis Imperfecta, Type Xiii
Femoral bowing, Reduced bone mineral density, Pectus carinatum, Enlarged thorax, Dentinogenesis i... OMIM:614856
Campomelic Dysplasia
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,... OMIM:114290
Gm1-Gangliosidosis, Type I
Thickened ribs, Severe short stature, Short neck, Joint stiffness, Kyphosis, Depressed nasal ridg... OMIM:230500
Tatton-Brown-Rahman Syndrome
Mandibular prognathia, Proportionate short stature, Aggressive behavior, Obesity, Seizure, Short ... ORPHA:404443
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Epileptic spasm, Anteverted n... OMIM:247200
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... OMIM:184100
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... ORPHA:309246
Trisomy 13
Median cleft lip, Abnormality of the dentition, Kyphosis, Postaxial hand polydactyly, High, narro... ORPHA:3378
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93259
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Anteverted nares, Depressed nasal ridge, Obesity, Seizure, Retrognathia ORPHA:464288
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Short stature, Tapered finger, Short neck, Multiple joint d... OMIM:618395
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Osteolysis, Joint swelling, Fused cervical vertebrae, Flaring of rib c... OMIM:612852
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Bone pain, Seizure, ... OMIM:610539
Lethal Congenital Contracture Syndrome Type 1
Short stature, Recurrent fractures, Short neck, Micrognathia, Abnormality of the elbow, Abnormal ... ORPHA:1486
Chromosome 3Q13.31 Deletion Syndrome
Proximal placement of thumb, Kyphosis, Seizure, High palate, Short philtrum, Attention deficit hy... OMIM:615433
Kleefstra Syndrome
Mandibular prognathia, Tented upper lip vermilion, Downturned corners of mouth, Advanced eruption... ORPHA:261494
Musculocontractural Ehlers-Danlos Syndrome
Cervical kyphosis, Decreased palmar creases, Generalized joint laxity, Abnormal sternum morpholog... ORPHA:2953
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Beaded ribs, Multiple ... OMIM:166210
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Rhizomelia, Depressed nasal bridge, Severe short stature, Kyphosis, Wide an... OMIM:616482
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... OMIM:139210
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Short stature, Underdevelope... OMIM:615866
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Renal And Mullerian Duct Hypoplasia
Severe postnatal growth retardation, Short nose, Micrognathia OMIM:266810
Hypophosphatasia
Bowing of the long bones, Short stature, Recurrent fractures, Craniosynostosis, Abnormality of th... ORPHA:436
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Single transverse palmar crease, Clonic seizure, High, narrow palate, Abnormal curvatu... OMIM:619475
Peho Syndrome
Anteverted nares, Infantile spasms, Tapered finger, Open mouth, Flexion contracture, Limitation o... ORPHA:2836
Oxoglutarate Dehydrogenase Deficiency
Dystonia, Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia OMIM:203740
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Depressed nasal bridge, Short stature, Obesity, Seizure, Enamel hypopl... OMIM:612462
Intellectual Developmental Disorder, Autosomal Dominant 57
Thin upper lip vermilion, Short stature, Prominent nasal bridge, Craniosynostosis, Broad nasal ti... OMIM:618050
Lathosterolosis
Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Anteverted nares, Mi... ORPHA:46059
Lafora Disease
Ataxia, Confusion, Focal sensory seizure with visual features, Hypsarrhythmia, Seizure, Depressio... ORPHA:501
Laurence-Moon Syndrome
Ataxia, Obesity, Short stature OMIM:245800
Arthrogryposis, Distal, Type 5
Arachnodactyly, Decreased palmar creases, Limited wrist extension, Short stature, Pectus excavatu... OMIM:108145
Subaortic Stenosis-Short Stature Syndrome
Anteverted nares, Obesity, Short stature, Micrognathia ORPHA:3191
Monosomy 22Q13.3
Sacral dimple, Hyperactivity, Dental crowding, Impaired pain sensation, Accelerated skeletal matu... ORPHA:48652
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Widely spaced teeth, Ataxia, Short stature, Cleft soft palate, Tapered finger, Supernumerary toot... ORPHA:268261
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, EEG with burst suppression, Hypsarrhythm... OMIM:612164
Phaver Syndrome
Broad hallux phalanx, Depressed nasal bridge, Camptodactyly of finger, Joint stiffness, Short thu... ORPHA:2876
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos... OMIM:208230
Hurler Syndrome
Progressive neurologic deterioration, Short neck, Metaphyseal widening, Flexion contracture, Micr... OMIM:607014
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Osteomyelitis, Ataxia, Truncal titubation, Kyphosis, Impaired vibration sensation in the lower li... ORPHA:88628
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli... OMIM:616229
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Broad long bones, S... OMIM:200610
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:600131
Febrile Seizures, Familial, 8
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... OMIM:607681
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Joint laxity, Wide nose, Broad hallux, Arachnodactyly, Prominent nasal bridge, Prominent nose, Pe... OMIM:601552
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Short stature, Micrognathia, Postnatal growth retardation, Decreased body weight, ... OMIM:608747
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Thoracic scoliosis, Dental crowding, Spinal rigidity, Microgna... OMIM:620351
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Prolidase Deficiency
Depressed nasal bridge, Micrognathia, Concave nasal ridge, Febrile seizure (within the age range ... OMIM:170100
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Single transverse palmar crease, Short neck, Micrognathia, Prominent nose,... OMIM:612474
Down Syndrome
Joint laxity, Sandal gap, Bilateral single transverse palmar creases, Depressed nasal bridge, Sho... ORPHA:870
2Q37 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Short stature, Underdeveloped nasal alae, Obesity, Seiz... ORPHA:1001
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, A... OMIM:617952
Brain Malformations With Or Without Urinary Tract Defects
Seizure, Short nose, Failure to thrive, Anteverted nares OMIM:613735
White-Sutton Syndrome
Waddling gait, Mandibular prognathia, Hyperactivity, Depressed nasal bridge, Short stature, Broad... OMIM:616364
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Myoclonic seizure, Hypoplastic c... OMIM:619512
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Accelerated skeletal maturation, Pectus carinatum, Vertebral segmentation ... OMIM:312870
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Stickler Syndrome
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge... ORPHA:828
Shox-Related Short Stature
Short stature, Obesity, Micrognathia ORPHA:314795
19P13.13 Microdeletion Syndrome
Smooth philtrum, Thin upper lip vermilion, Sandal gap, Anteverted nares, Depressed nasal bridge, ... ORPHA:357001
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Depressed nasal bridge, Bilateral tonic-clonic seizure, Simple febrile seizure, Broad nasal tip, ... ORPHA:466950
Kyphomelic Dysplasia
Micromelia, Micrognathia, Lateral clavicle hook, Tibial bowing, Femoral bowing, Pterygium, Short ... OMIM:211350
Cooper-Jabs Syndrome
Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Short statu... ORPHA:1488
Baller-Gerold Syndrome
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Short stature, Pr... ORPHA:1225
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Mandibular prognathia, Single transverse palmar crease, Clinodactyly of the 5th finger, Microretr... ORPHA:459070
Brachyolmia Type 3
Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Childhood-o... OMIM:113500
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal... OMIM:602535
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity ORPHA:2183
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Orofacial c... OMIM:194190
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Thin upper lip vermilion, Brachydactyly, Joint stiffness, Anosmia, Genu valgum, Hypoplasia of the... ORPHA:1295
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... OMIM:600920
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Depressed nasal bridge, Short stature, Obesity, Seizure, Enamel hypopl... OMIM:103580
Insulin-Like Growth Factor I, Resistance To
Severe short stature, Short stature, Micrognathia, Wide nasal bridge, Growth delay, Truncal obesi... OMIM:270450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrog... OMIM:606612
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Anteverted nares, Ovoid vertebral bodies, Short hallux, ... ORPHA:1517
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Short neck, Mi... OMIM:217980
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Median cleft lip, Micrognathia, Absent thumb, Aplasia/Hypoplas... ORPHA:1234
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Proportionate short stature, Carious ... OMIM:244460
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Athetosis, Ataxia, Bilateral tonic-clonic seizure OMIM:614559
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Short stature, Seizure, Truncal obesity, Ga... OMIM:300957
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short stature, Short nec... OMIM:613686
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia ORPHA:53583
Teebi Hypertelorism Syndrome 1
Natal tooth, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Sagittal cranios... OMIM:145420
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Anteverted nares, Aggressive behavior, Persistence of primary... OMIM:610253
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Depressed nasal bridge, Short stature, Postaxial polydactyly, Accessory oral fr... OMIM:617088
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Short stature OMIM:300887
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, Promine... ORPHA:364577
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Short stature, Prominent nasal bridge, Broad nasal tip, Micrognathia, Postnatal growth retardatio... OMIM:300749
D-2-Hydroxyglutaric Aciduria 1
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Micrognathia, Myoclonic seizure,... OMIM:600721
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ... ORPHA:464738
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Hypsarrhythmia, ... OMIM:301058
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seiz... OMIM:618170
Deeah Syndrome
Short neck, High palate, Short philtrum, Self-mutilation, Short stature, Delayed skeletal maturat... OMIM:619004
Waardenburg Syndrome Type 1
Mandibular prognathia, Tented upper lip vermilion, Underdeveloped nasal alae, Cleft upper lip, Wi... ORPHA:894
Bruck Syndrome
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor... ORPHA:2771
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-clonic seizure with gener... ORPHA:352582
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress... ORPHA:93258
Laurence-Moon Syndrome
Ataxia, Obesity, Short stature ORPHA:2377
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Micrognathia, Flexion contracture, Oligodontia, High palate, Short philtrum, Abnormal repetitive ... OMIM:309590
Williams Syndrome
Osteopenia, Micrognathia, Tremor, Abnormal form of the vertebral bodies, Dysmetria, Vertebral seg... ORPHA:904
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Seizure, Short nose ORPHA:79113
Hurler Syndrome
Abnormal clavicle morphology, Short neck, Abnormal nerve conduction velocity, Abnormal vertebral ... ORPHA:93473
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... OMIM:250220
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
Codas Syndrome
Congenital hip dislocation, Proximal placement of thumb, Generalized joint laxity, Short phalanx ... OMIM:600373
Lissencephaly 9 With Complex Brainstem Malformation
Depressed nasal bridge, Bilateral tonic-clonic seizure, Infantile spasms, Short stature, Myocloni... OMIM:618325
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Decreased nerve conduction velocity, Kyphosis, Elbow fle... OMIM:618138
Becker Nevus Syndrome
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Upper limb asymmet... ORPHA:64755
Geleophysic Dysplasia 1
Short palm, Smooth philtrum, Osteopenia, Anteverted nares, Camptodactyly of finger, Short stature... OMIM:231050
Sarcosinemia
Emotional lability, Ataxia, Bilateral tonic-clonic seizure ORPHA:3129
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis... OMIM:194350
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Short stature, Osteoporosis ORPHA:2786
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... ORPHA:79644
Mitochondrial Complex I Deficiency, Nuclear Type 13
Irritability, Generalized dystonia, Bilateral tonic-clonic seizure, Focal motor seizure OMIM:618235
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Micrognathia ORPHA:2547
Lateral Meningocele Syndrome
Vertebral fusion, Short stature, Dental crowding, Joint hypermobility, Short neck, Micrognathia, ... OMIM:130720
Mend Syndrome
Sacral dimple, Hyperactivity, Overlapping toe, Broad hallux, Prominent nasal bridge, Micrognathia... ORPHA:401973
Donnai-Barrow Syndrome
Seizure, Short nose, Depressed nasal bridge ORPHA:2143
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... ORPHA:280365
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Depressed nasal ridge, D... ORPHA:1791
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... ORPHA:2234
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Obesity, Tip-toe gait, Dysphagia, Spastic gait OMIM:604360
Congenital Myopathy 9A
Short stature, Obesity, Akinesia OMIM:618822
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Micrognathia, Hypo... OMIM:209885
Dend Syndrome
Seizure, Short nose, Anteverted nares, Hypsarrhythmia ORPHA:79134
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Broad columella, Long hallux, Broad hallux pha... ORPHA:2308
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cubitus valgus, Kyphosis, Joint hyperflexibility ORPHA:1875
7Q31 Microdeletion Syndrome
Short attention span, Hyperactivity, Torticollis, Wide nasal ridge, Prominent nose, Hypoplasia of... ORPHA:251061
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... OMIM:618012
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal, Severe short stature, Intrauterine growth retardation, Broad ... OMIM:618724
Typical Nemaline Myopathy
Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Micrognathia, Hip dislocation, Flexion cont... ORPHA:171436
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, Anteverted nares, Broad hallux, Single transverse palmar crease, Depr... OMIM:614105
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Dental crowding, Short neck, Short metatarsal, High palate, Short metacarpal, Anteverted nares, D... OMIM:617157
Nablus Mask-Like Facial Syndrome
Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, High palate, Anteverted n... OMIM:608156
Hypocalcemic Vitamin D-Dependent Rickets
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Deformed rib cag... ORPHA:289157
Catel-Manzke Syndrome
Joint dislocation, Single transverse palmar crease, Short neck, Micrognathia, Pectus carinatum, G... OMIM:616145
Osteogenesis Imperfecta, Type X
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... OMIM:613848
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Everted upper lip vermilion, Joint hypermobility, Sandal gap, Rocker bottom foot, ... OMIM:619951
Developmental Delay With Or Without Dysmorphic Facies And Autism
Micrognathia, 2-3 toe cutaneous syndactyly, Laryngotracheomalacia, Short philtrum, Compulsive beh... OMIM:618454
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Carious teet... ORPHA:96263
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Dental crowding, Downturned corners of mouth, Hyperacti... ORPHA:261323
Alpers-Huttenlocher Syndrome
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Choreoathetosis, Myoclonus ORPHA:726
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Anteverted nares, Short neck, Kyphosis, Cone-shaped epiphyse... ORPHA:420794
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
X-Linked Hypophosphatemia
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... ORPHA:89936
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... OMIM:250420
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Flexion contracture, Generalized non-motor (absence) seizure, Sei... OMIM:616281
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Long palm, Single transverse palmar crease,... OMIM:244450
Myopathy, Centronuclear, 2
Scapular winging, Hyperlordosis, Kyphosis, Flexion contracture, High palate, Talipes equinovarus,... OMIM:255200
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:2233
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Idiopathic Intracranial Hypertension
Focal sensory seizure with olfactory features, Obesity ORPHA:238624
Mccune-Albright Syndrome
Osteomalacia, Recurrent fractures, Accelerated skeletal maturation, Dental malocclusion, Abnormal... ORPHA:562
Bardet-Biedl Syndrome 19
Hyposmia, Obesity OMIM:615996
Alkuraya-Kucinskas Syndrome
Overlapping toe, Anteverted nares, Depressed nasal bridge, Micrognathia, Cutaneous syndactyly, Se... OMIM:617822
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Short stature, Underdeveloped nasal alae, Seizure, Short nose ORPHA:2031
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Ataxia, Prominent nasal bridge, Short stature, Broad nasal tip, Long nose, Dysm... OMIM:616541
Ogden Syndrome
Generalized-onset seizure, Congenital hip dislocation, Short neck, Micrognathia, Deep philtrum, S... OMIM:300855
Monosomy 9P
Proximal placement of thumb, Short neck, Micrognathia, High palate, Bilateral single transverse p... ORPHA:261112
Cohen Syndrome
Short stature, Prominent nasal bridge, Small for gestational age, Micrognathia, Hypoplasia of the... OMIM:216550
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
White-Sutton Syndrome
Hyperactivity, Depressed nasal bridge, Short stature, Broad nasal tip, Aggressive behavior, Obesi... ORPHA:468678
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Increased c... OMIM:615830
Omodysplasia 1
Short neck, Micrognathia, Limited elbow flexion, Short tibia, Rhizomelia, Increased fibular diame... OMIM:258315
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... OMIM:271640
Emanuel Syndrome
Broad jaw, Sacral dimple, Congenital hip dislocation, Dental crowding, Torticollis, Delayed erupt... OMIM:609029
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Torticollis, Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Distal s... OMIM:181405
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Subglottic stenosis, Thin upper lip vermilion, Anteverted nares, Short stature, Tracheomalacia, M... ORPHA:444077
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Arachnodactyly, Kyphosis, High, narrow palate, Joint hyperflexibility, Shoulder dislocation, Scol... ORPHA:2181
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Pectus excavatum, Multifocal epileptiform discharges, EEG with ge... ORPHA:488613
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Short neck, Micrognathi... ORPHA:2879
Distal Deletion 9P
Short neck, Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, E... ORPHA:1642
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Paroxysmal dystonia, Kyphosis, Seizure, Dysphagia, Intrauterine growth retarda... OMIM:619909
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Noonan Syndrome 1
Pectus excavatum of inferior sternum, Short stature, Kyphoscoliosis, Short neck, Micrognathia, Po... OMIM:163950
Zttk Syndrome
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturned corners of mouth, High ... OMIM:617140
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures... OMIM:610968
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Seizure OMIM:616418
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... OMIM:601764
Developmental And Epileptic Encephalopathy 106
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth retardation, Fo... OMIM:620028
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Bone pain, Pectus carinatum, Downtu... ORPHA:955
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Prominent nasal bridge, Proportionate short stature, Short toe, Cone-shaped epiphyses... OMIM:619269
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Short stature, Prominent nasal bridge, Hyperlordosis, Delayed skeletal... ORPHA:3068
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Short neck, M... ORPHA:96334
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Kyphosis, Flexion contracture, Bilateral talipes equinovarus, Talipes equinovarus... OMIM:618484
X-Linked Intellectual Disability, Snyder Type
Mandibular prognathia, Dental crowding, Pectus carinatum, High palate, Short philtrum, Long toe, ... ORPHA:3063
Thoracolaryngopelvic Dysplasia
Laryngeal stenosis, Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, ... OMIM:187760
Dk1-Cdg
Bilateral tonic-clonic seizure, Short stature, Infantile spasms, Focal-onset seizure, Multifocal ... ORPHA:91131
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with central focal spikes, Broad ribs, Abnormal repetitive mannerisms, Broad metacarpals, Dep... OMIM:301066
Molybdenum Cofactor Deficiency, Complementation Group B
Bilateral tonic-clonic seizure, Opisthotonus, Growth delay, Seizure, Irritability, Thick vermilio... OMIM:252160
Peroxisome Biogenesis Disorder 4B
Ataxia, Decreased nerve conduction velocity, Seizure, Gait disturbance, Short nose OMIM:614863
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Anteverted nares, Short stature, Anorexia, Pectus excavatum, Kyphosis, Asymmet... ORPHA:1969
Rauch-Steindl Syndrome
Hyperactivity, Depressed nasal bridge, Short stature, Aggressive behavior, Postnatal growth retar... OMIM:619695
3Mc Syndrome 2
Prominence of the premaxilla, Torticollis, Prominent nasal bridge, Limited elbow movement, Cranio... OMIM:265050
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Joint laxity, Ar... ORPHA:284984
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Hyperlordosis, Tr... OMIM:128100
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Short neck, Micrognathia, Abnormality of the gingiva, Tibial bowing... ORPHA:798
Postencephalitic Parkinsonism
Resting tremor, Camptocormia, Oculogyric crisis, Kyphosis, Depression, Seizure, Paresthesia, Dysp... ORPHA:97349
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Postnatal ... OMIM:300963
Toluene Embryopathy
Hypoplasia of the zygomatic bone, Short nose, Short stature, Micrognathia ORPHA:1920
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Coxa valga, Short tubular b... ORPHA:85184
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Tented upper lip vermilion, Broad hallux, Broad nasal tip, Wide nasal bridge, Shortening of all d... OMIM:614749
Occipital Horn Syndrome
Persistent open anterior fontanelle, Pectus carinatum, High palate, Narrow chest, Broad ribs, Joi... OMIM:304150
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Short stature, Prea... OMIM:610536
Brain Small Vessel Disease 2
Growth delay, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93260
Pitt-Hopkins Syndrome
Single transverse palmar crease, Short neck, Short metatarsal, Gait ataxia, Finger clinodactyly, ... ORPHA:2896
Adnp Syndrome
Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal temper... ORPHA:404448
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint dislocation, Osteopenia, Thoracic scoliosis, Equinus calcaneus, Impaired temperature sensat... ORPHA:536532
Fraser Syndrome 1
Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Wide nose, Cleft ala nasi, Depressed nasal ... OMIM:219000
Geleophysic Dysplasia 2
Thin upper lip vermilion, Short stature, Ovoid vertebral bodies, Joint stiffness, Delayed skeleta... OMIM:614185
Marshall Syndrome
Anteverted nares, Depressed nasal bridge, Short stature, Micrognathia, Hypoplasia of the maxilla,... ORPHA:560
Combined Oxidative Phosphorylation Deficiency 27
Bilateral tonic-clonic seizure, Chorea, Multifocal epileptiform discharges, Opisthotonus, Status ... OMIM:616672
Mosaic Trisomy 8
Wide nose, Anteverted nares, Camptodactyly of finger, Short stature, Short neck, Micrognathia, Br... ORPHA:96061
Geroderma Osteodysplasticum
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Mandibular prognathia, Seve... OMIM:231070
Genitopalatocardiac Syndrome
Micrognathia, Kyphosis, Postaxial hand polydactyly, Non-midline cleft lip, Wide nasal bridge, Cle... ORPHA:2075
Atelis Syndrome 2
Sacral dimple, Single transverse palmar crease, Micrognathia, Prominent nose, Kyphosis, Bulbous n... OMIM:620185
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Depressed nasal bridge, Bilateral tonic-clonic seizure, Aggressive behavior, Broad nasal tip, Bul... ORPHA:466943
Marinesco-Sjogren Syndrome
Short metacarpal, Ataxia, Short stature, Coxa valga, Kyphosis, Flexion contracture, Short metatar... OMIM:248800
Distal Duplication 5Q
Hypoplasia of the ulna, Short stature, Prominent nasal bridge, Craniosynostosis, Micrognathia, Ab... ORPHA:96097
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Cockayne Syndrome Type 2
Mandibular prognathia, Ataxia, Delayed eruption of primary teeth, Kyphosis, Flexion contracture, ... ORPHA:90322
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Underdeveloped nasal alae, Prominent nose, Disproportionate short stature, Wide nasal bridge, Sei... ORPHA:2637
Aspartylglucosaminuria
Mandibular prognathia, Abnormal morphology of ulna, Abnormality of the dentition, Carious teeth, ... ORPHA:93
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Congenital Disorder Of Glycosylation, Type Iie
Wide nose, Short stature, Micrognathia, Short neck, Protruding tongue, Growth delay, Seizure, Int... OMIM:608779
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Scoliosis OMIM:610743
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Mandibular prognathia, Joint laxity, Lumbar hyperlordosis, Arachnodactyly, Prominent nasal bridge... ORPHA:457359
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ... ORPHA:280
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormal ri... ORPHA:3035
Lathosterolosis
Toe syndactyly, Anteverted nares, Lumbosacral meningocele, Micrognathia, Postaxial hand polydacty... OMIM:607330
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Anteverted nares, Short neck, Absent radius, Preaxial hand polyd... ORPHA:233
Ayme-Gripp Syndrome
Mandibular prognathia, Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Short s... OMIM:601088
Radio-Renal Syndrome
Severe short stature, Depressed nasal bridge, Micromelia, Short neck, Micrognathia, High, narrow ... ORPHA:3015
Sanjad-Sakati Syndrome
Depressed nasal bridge, Abnormal dental enamel morphology, Short stature, Micrognathia, Postnatal... ORPHA:2323
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Tibial... OMIM:304120
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Short nose, Depressed nasal bridge, Narrow naris OMIM:122880
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Single transverse palmar crease, Long nose, Downturned corners of mouth, High palate, Clinodactyl... OMIM:619522
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Seizure, Bilateral tonic-clonic seizure, Action tremor OMIM:300423
Choreoacanthocytosis
Chorea, Oromandibular dystonia, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Decrease... ORPHA:2388
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ... ORPHA:3454
Hurler-Scheie Syndrome
Depressed nasal bridge, Camptodactyly of finger, Short stature, Thenar muscle atrophy, Micrognath... OMIM:607015
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Short stature, Underdeveloped nasal alae, Abnormal nostril morphology,... ORPHA:2315
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Holoprosencephaly 9
Depressed nasal bridge, Hypoplasia of the premaxilla, Short stature, Cleft upper lip, Hypoplasia ... OMIM:610829
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Palmoplantar hyperkeratosis, Gait ataxia, Myoclonic seizure, Short philtrum, Widely spaced teeth,... OMIM:280000
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Prominent nose, Tremor, High, narrow palate, Short philtrum, Widely spaced teeth... OMIM:300967
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... ORPHA:85167
Marfanoid Habitus With Situs Inversus
Mandibular prognathia, Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, ... OMIM:609008
Oculocerebral Hypopigmentation Syndrome, Cross Type
Anteverted nares, Arachnodactyly, Ataxia, Depressed nasal bridge, Abnormal thumb morphology, Shor... ORPHA:2719
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Anteverted nares, Single transverse palmar crease, Kyphosis, 2-3 toe ... OMIM:616449
Fetal Hydantoin Syndrome
Short stature, Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Trip... ORPHA:1912
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Thin upper lip vermilion, Tented upper lip vermilion, Aggressive behavior, Prominent nose, Kyphos... OMIM:619244
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Depressed nasal bri... OMIM:268400
Alagille Syndrome
Hypoplasia of the ulna, Micrognathia, Long nose, Delayed skeletal maturation, Abnormal rib morpho... ORPHA:52
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, High palate, Clinoda... ORPHA:235
Proximal 16P11.2 Microdeletion Syndrome
Micrognathia, Obesity, Choreoathetosis, Seizure, Attention deficit hyperactivity disorder, Failur... ORPHA:261197
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Congenital hip dislocation, Short neck, Accelerated skeletal maturation, H... ORPHA:373
Cerebrooculonasal Syndrome
U-Shaped upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial poly... OMIM:605627
Alg9-Cdg
Short neck, Micrognathia, Narrow greater sciatic notch, Abnormal bone ossification, Bifid uvula, ... ORPHA:79328
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Sacral dimple, Tapered finger, Wide nasal bridge, Seizu... OMIM:613603
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the vertebral bodies, Adv... ORPHA:818
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Short neck... ORPHA:264450
Bannayan-Riley-Ruvalcaba Syndrome
Wide nose, Anteverted nares, Short stature, Micrognathia, Pectus excavatum, Delayed skeletal matu... ORPHA:109
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Torticollis, Stiff neck, Short neck, Micrognathia, Narrow palate, Femoral bow... OMIM:617022
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Depressed nasal brid... OMIM:620076
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Kagami-Ogata Syndrome
Pursed lips, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Short neck, ... ORPHA:254519
Japanese Encephalitis
Decreased motor nerve conduction velocity, Dystonia, Bilateral tonic-clonic seizure, Genu recurva... ORPHA:79139
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Polydipsia, Failure to thrive, Decreased circulating a... ORPHA:320
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Elevated circulating parathyroid hormone level, Obesity ORPHA:79445
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Short neck, Micrognathia, Short metatarsal, Widely spaced teeth, High palate, Narrow ... OMIM:266920
Alternating Hemiplegia Of Childhood
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Anorexia, Oral-pharyngeal dysphagia, Aggressive... ORPHA:2131
Cowden Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Palmoplantar hyperkeratosis,... OMIM:615108
Primrose Syndrome
Hypoplasia of the maxilla, Flexion contracture, Knee flexion contracture, Downturned corners of m... OMIM:259050
D-Bifunctional Protein Deficiency
Osteopenia, Depressed nasal bridge, Bilateral tonic-clonic seizure, Thoracic hypoplasia, Microgna... OMIM:261515
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Postnatal growth retardation, Abno... OMIM:302960
Pelizaeus-Merzbacher Disease
Ataxia, Short stature, Joint stiffness, Kyphosis, Choreoathetosis, Seizure, Scoliosis, Dystonia ORPHA:702
Osteogenesis Imperfecta, Type Xx
Mandibular prognathia, Tented upper lip vermilion, Kyphoscoliosis, Multiple prenatal fractures, B... OMIM:618644
Toriello-Carey Syndrome
Short stature, Micrognathia, Short neck, Postnatal growth retardation, Wide anterior fontanel, Cl... ORPHA:3338
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand OMIM:608257
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure, Delayed closure of the anterior fontanelle, Mult... OMIM:271900
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Prominent metopic ridge, Dental crowding, Hyperlordosis, Short neck, K... ORPHA:2789
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Single transverse palmar crease, Tongue thrusting, Hypsarrhythmia... OMIM:220120
Desmosterolosis
Severe short stature, Depressed nasal bridge, Abnormality of the nose, Micrognathia, Retrognathia... ORPHA:35107
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Micrognathia ORPHA:1129
Monosomy 13Q34
Prominent nasal bridge, Epistaxis, Broad nasal tip, Prominent nose, Micrognathia, Obesity, Growth... ORPHA:96168
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Williams-Beuren Syndrome
Osteopenia, Flexion contracture, Microdontia, Clinodactyly of the 5th finger, Joint laxity, Antev... OMIM:194050
Perrault Syndrome 4
Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t... OMIM:615300
Intellectual Developmental Disorder, Autosomal Dominant 29
Hyperactivity, Wide nose, Generalized-onset seizure, Aggressive behavior, Obesity, Self-injurious... OMIM:616078
Rett Syndrome
Agitation, Cholecystitis, Increased serum leptin, Failure to thrive, Abnormal repetitive manneris... ORPHA:778
Fraser Syndrome
Subglottic stenosis, Finger syndactyly, Laryngeal stenosis, Cleft ala nasi, Toe syndactyly, Depre... ORPHA:2052
3Q29 Microduplication Syndrome
Seizure, Wide nasal bridge, Obesity ORPHA:251038
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Dementia, Bilateral tonic-clonic seizure OMIM:540000
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Chorea, Bilateral tonic-clonic seizure, Truncal ataxia, Hyperlordosis ORPHA:369840
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Depressed nasal bridge, Short stature, Short neck, Broad nasal tip, Kyphosis, Cleft lip, Hemivert... OMIM:618223
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Osteogenesis Imperfecta, Type Iv
Short stature, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Increased susceptibi... OMIM:166220
16Q24.3 Microdeletion Syndrome
Anteverted nares, Proximal placement of thumb, Micrognathia, Kyphosis, Wide mouth, Seizure, Hip d... ORPHA:261250
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Noonan Syndrome 14
Scapular winging, Short stature, Prominent nasal bridge, Short neck, Pectus excavatum, Kyphosis, ... OMIM:619745
C Syndrome
Joint dislocation, Micromelia, Short neck, Micrognathia, High palate, Clinodactyly of the 5th fin... ORPHA:1308
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Joint dislocation, Generalized-onset seizure, Calcaneovalgus deformity, Pect... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Joint dislocation, Generalized-onset seizure, Calcaneovalgus deformity, Pect... ORPHA:363958
Aicardi Syndrome
Prominence of the premaxilla, Epileptic spasm, Block vertebrae, Anteverted nares, Proximal placem... OMIM:304050
Developmental And Epileptic Encephalopathy 61
Bilateral tonic-clonic seizure with focal onset, Seizure, Thick vermilion border, High palate, Fo... OMIM:617933
Ataxia-Oculomotor Apraxia Type 4
Ataxia, Obesity ORPHA:459033
Mgat2-Cdg
Osteopenia, Brachydactyly, Dental crowding, Infantile spasms, Pectus excavatum, Kyphosis, Open mo... ORPHA:79329
Cornelia De Lange Syndrome
Micromelia, Proximal placement of thumb, Short neck, Micrognathia, Downturned corners of mouth, W... ORPHA:199
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Micrognathia, Po... OMIM:263750
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Mandibuloacral Dysplasia With Type B Lipodystrophy
Aplasia/Hypoplasia of the clavicles, Short stature, Convex nasal ridge, Abnormal fingertip morpho... ORPHA:90154
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h... ORPHA:64280
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Prominent nasal bridge... OMIM:616914
Floating-Harbor Syndrome
Enlarged joints, Short neck, Hypoplasia of the maxilla, Long nose, Humeral pseudarthrosis, Oligod... ORPHA:2044
17P11.2 Microduplication Syndrome
Short stature, Abnormal dental morphology, Oral-pharyngeal dysphagia, Micrognathia, Open bite, Wi... ORPHA:1713
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Depressed nasal bridge, Anteverted nares, Obesity, Underdeveloped nasal alae OMIM:608624
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Short stature, Depressed nasal bridge, Small for gestational age, Micrognathia, Bulbo... OMIM:614114
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines OMIM:301076
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Tonic seizure, Focal-onset seizur... OMIM:620029
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Dystonia, Ataxia, Micrognathia, Head titubation, Kyphosis, Dysmetria, Knee flexion contracture, S... OMIM:619708
Witteveen-Kolk Syndrome
Proximal placement of thumb, High, narrow palate, Short philtrum, High palate, Short palm, Clinod... OMIM:613406
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Short neck, Tremor, High palate, Narrow chest, Prominent palatine rid... ORPHA:280633
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Prominent crus of helix, Thin l... OMIM:619194
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Short neck, Micrognathia, Vertebral segmentation de... ORPHA:263508
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Joint laxity, Overlapping toe, Single transverse palmar crease, Anteverted nares, Depre... ORPHA:254528
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Confusion, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, E... OMIM:602481
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Weiss-Kruszka Syndrome
Prominent metopic ridge, Anteverted nares, Single transverse palmar crease, Proximal placement of... OMIM:618619
Septo-Optic Dysplasia Spectrum
Short stature, Anosmia, Obesity, Seizure, Polydipsia ORPHA:3157
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized-onset seizure, Anteverted nares, Bilateral tonic-clonic seizure, Bilateral tonic-clon... OMIM:614231
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Micrognathia, Abnormality of the gingiva, Osteopathia striata, Gait ataxia, Widely spaced teeth, ... ORPHA:513456
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Infantile spasms, Missing ribs, Cleft upper lip, S... ORPHA:50
Cowden Syndrome 6
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Palmoplantar hyperkeratosis,... OMIM:615109
Camurati-Engelmann Disease
Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morph... ORPHA:1328
Ullrich Congenital Muscular Dystrophy 1
Joint laxity, Torticollis, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion contracture, H... OMIM:254090
Martin-Probst Syndrome
Short stature, Micrognathia, Thick lower lip vermilion, Dental malocclusion, Wide nasal bridge, W... OMIM:300519
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... ORPHA:2658
Cardiofaciocutaneous Syndrome
Anteverted nares, Abnormal morphology of ulna, Depressed nasal bridge, Short neck, Short stature,... ORPHA:1340
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Depressed nasal bridge, Aggressive behavior, Increased body weight, Self-injurious behavior, Seizure OMIM:300860
Intellectual Developmental Disorder, Autosomal Recessive 78
Microretrognathia, Kyphoscoliosis, Pectus excavatum, Delayed skeletal maturation, High palate, Na... OMIM:620237
Chromosome 14Q11-Q22 Deletion Syndrome
Generalized-onset seizure, Depressed nasal bridge, Proportionate short stature, Micrognathia, Ina... OMIM:613457
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... OMIM:118400
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Poikiloderma With Neutropenia
Short stature, Depressed nasal bridge, Underdeveloped nasal alae, Micrognathia, Carious teeth, Gr... OMIM:604173
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Dental crowding, Micrognathia, Kyphosis, Osteoporosis, Scoliosis, Narrow mouth, Joint contracture... OMIM:615381
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Bardet-Biedl Syndrome
Short stature, Prominent nasal bridge, Obesity ORPHA:110
Menke-Hennekam Syndrome 1
Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of ... OMIM:618332
Desmosterolosis
Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Micrognathia, Seizure, Short nose, Failur... OMIM:602398
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Short stature, Impulsivity, Aggressive behavior, Kyphosis, Flexion contracture, Small hand, Short... ORPHA:500055
Melnick-Needles Syndrome
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... OMIM:309350
3Q27.3 Microdeletion Syndrome
Mandibular prognathia, Slender nose, Thin upper lip vermilion, Arachnodactyly, Dental crowding, K... ORPHA:397695
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... ORPHA:2911
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increased body weight, Hyperhidrosis, ... ORPHA:263455
Srd5A3-Cdg
Ataxia, Kyphosis, Abnormal sacrum morphology, Seizure, Oligodontia, Palmoplantar keratoderma ORPHA:324737
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity OMIM:601794
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, C... ORPHA:534
Mend Syndrome
Microretrognathia, Sacral dimple, Hyperactivity, Overlapping toe, Broad hallux, Prominent nasal b... OMIM:300960
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A... ORPHA:1120
Trisomy 18
Microretrognathia, Short stature, Camptodactyly of finger, Choanal atresia, Narrow mouth, Postaxi... ORPHA:3380
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Genu valgum... OMIM:617798
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co... ORPHA:249
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... OMIM:225500
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, Micrognathia... ORPHA:1974
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Choanal atresia, Lip pit, Micrognath... ORPHA:1300
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Bardet-Biedl Syndrome 21
Overweight, Obesity OMIM:617406
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes mellitus, Hyp... ORPHA:79230
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Multiple joint contractures, Bilateral tonic-clonic seizure, Depressed nasal bridg... ORPHA:447997
Meier-Gorlin Syndrome 6
Microretrognathia, Severe short stature, Anteverted nares, Depressed nasal bridge, Small for gest... OMIM:616835
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Ataxia, Anteverted nares, Polydactyly, Narrow mouth, Comple... ORPHA:59315
Ring Chromosome 7 Syndrome
Mandibular prognathia, Single transverse palmar crease, Short philtrum, Clinodactyly of the 5th f... ORPHA:1449
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second... ORPHA:90796
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Diabetes mellitus, Hepatomegaly, Hypertriglyceridemia, Obe... ORPHA:412
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Cleft upper lip, Micrognathia, Abnormal rib morphology, Cleft palate, Abnormality ... OMIM:601076
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Type II diabetes mellitus, Obesity OMIM:618620
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Choanal steno... ORPHA:1790
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Severe short stature, Short stature, Short neck, Kyphosis, Split hand,... OMIM:309900
Bartsocas-Papas Syndrome 1
Short neck, Hypoplasia of the maxilla, Micrognathia, Flexion contracture, Hypoplastic iliac wing,... OMIM:263650
Occipital Horn Syndrome
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short ... ORPHA:198
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Hypoplasia of teeth, Growth delay, Short nose, Retrognathia OMIM:234050
Silver-Russell Syndrome
Short stature, Failure to thrive in infancy, Cachexia, Micrognathia, Postnatal growth retardation... ORPHA:813
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Hypercholesterolemia ORPHA:86816
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ... OMIM:613091
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Bowing of the long bones, Ataxia, Short stature, Metaphyseal sclerosis, Postnatal gro... OMIM:612199
Senior-Loken Syndrome 9
Hypogonadism, Hepatic fibrosis, Cholestasis, Obesity OMIM:616629
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Wide nose, Short stature, Postnatal growth retardation, Abnormal hand morphology, Small hand, Sei... OMIM:300845
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Intellectual Developmental Disorder, Autosomal Dominant 54
Ataxia, Bilateral tonic-clonic seizure, Delayed eruption of primary teeth, Aggressive behavior, S... OMIM:617799
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Shoulder gi... OMIM:607155
Caudal Regression Syndrome
Impulsivity, Missing ribs, Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypoplasia of... ORPHA:3027
3Mc Syndrome
Craniosynostosis, Hyperlordosis, Abnormal nasal morphology, Postnatal growth retardation, Hip dis... ORPHA:293843
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal clavicle morphology, Abnormal dental morphology, Abnormal dental enamel morphology, Tars... ORPHA:85199
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Wide mouth, Bilateral tonic-clonic seizure, Micrognathia ORPHA:79350
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Prominent nasal bridge, Micrognathia, Pectus excavatum, Kyphosis, High palate, Short philtrum, Ra... OMIM:609944
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure, Cleft soft palate, Micrognathia, Limitation of joint mobility, Os... ORPHA:99742
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Joint hypermobility, Diastema, Kyphosis, Supernumerary tooth, Agenesis of molar, Anos... OMIM:619718
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges... OMIM:601356
Orofaciodigital Syndrome Type 4
Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate... ORPHA:2753
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... ORPHA:2298
Lissencephaly Due To Tuba1A Mutation
Microretrognathia, Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:171680
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anteverted nares, Depressed nasal bridge, Micrognathia, Tremor, Cleft palate, Choreoathetosis, Se... OMIM:614080
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Spinal rigid... ORPHA:98855
Donnai-Barrow Syndrome
Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Seizure, Short sternum, Malar fl... OMIM:222448
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Short stature, Generalized non-motor (absence) s... ORPHA:79351
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Bilateral tonic-clonic seizure, Ankle flexion contracture OMIM:618120
Khan-Khan-Katsanis Syndrome
Sacral dimple, Tented upper lip vermilion, Short stature, Postaxial polydactyly, Micrognathia, De... OMIM:618460
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Short stature, Delayed closure of the anterior fontanelle, Micrognathia... OMIM:225410
Marden-Walker Syndrome
Micrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Bifid uvula, Arachnodactyl... ORPHA:2461
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aggressive behavior, Disproportionate tall stature, Abdominal obesity, Attention deficit hyperact... OMIM:301039
Alg1-Cdg
Kyphosis, Limitation of joint mobility, Seizure, Scoliosis ORPHA:79327
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Dental crowding, Acroosteolysis of distal phalanges (feet), Micrognathia, Flexion con... OMIM:248370
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex... ORPHA:3103
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Broad-based gait, Aggressive behavior, Micrognathia, Tongue thrusting,... ORPHA:369950
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bilateral tonic-clonic seizure, Postural tremor, Focal motor seizure, Seizure, Dy... OMIM:619911
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Short neck, Hyperlordosis, ... ORPHA:98863
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hypercholest... OMIM:615812
Fatty Acid Hydroxylase-Associated Neurodegeneration
Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Depression, Progressiv... ORPHA:329308
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Bardet-Biedl Syndrome 17
Hyposmia, Polydipsia, Anosmia, Obesity OMIM:615994
1P36 Deletion Syndrome
Hepatic steatosis, Camptodactyly of finger, Abnormality of the spleen, Hypothyroidism, Polyphagia... ORPHA:1606
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol galls... ORPHA:209902
Orofaciodigital Syndrome Type 14
Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Short neck, Ha... ORPHA:434179
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Bilateral tonic-clonic seizure, Epistaxis, Athetosis, Seizure, Focal impaired awareness seizure, ... ORPHA:369929
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Osteoporosis, Scoliosis OMIM:618234
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Short attention span, Ataxia, Kyphosis, Dysmetria, Ankle clonus, Ar... ORPHA:88644
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th fing... OMIM:117650
Osteogenesis Imperfecta, Type Vii
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,... OMIM:610682
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Sandal gap, Abnormal dental enamel morphology, Pectus excavatum, Abnormal... ORPHA:1812
Acrorenal-Mandibular Syndrome
Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split... OMIM:200980
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Short neck, Broad nasal tip, Delayed skeletal maturation, Small hand, Abnormal rib mo... ORPHA:488434
Coffin-Siris Syndrome 1
Single transverse palmar crease, Conical tooth, Prominent interphalangeal joints, Gait ataxia, Sh... OMIM:135900
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Abnormal nasal morphology, Truncal obesity ORPHA:3224
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:250972
Mucolipidosis Type Ii
Hip contracture, Prominent metopic ridge, Depressed nasal bridge, Short stature, Craniosynostosis... ORPHA:576
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Mandibular prognathia, Joint laxity, Arachnodactyly, Prominent nasal bridge, Hyperlordosis, Kypho... OMIM:617011
Cowden Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Palmoplantar hyperkeratosis,... OMIM:158350
Congenital-Onset Steinert Myotonic Dystrophy
Hyperactivity, Decreased body weight, Obesity, Dysphagia ORPHA:589821
Loeys-Dietz Syndrome 3
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, High palate, ... OMIM:613795
Phosphoribosylpyrophosphate Synthetase Superactivity
Short stature, Depressed nasal bridge, Ataxia, Small for gestational age, Short nose, Convex nasa... OMIM:300661
Webb-Dattani Syndrome
Retrognathia, Short stature, Obesity, Bilateral tonic-clonic seizure OMIM:615926
Rothmund-Thomson Syndrome Type 2
Joint dislocation, Osteopenia, Long nose, Patellar hypoplasia, High palate, Microdontia, Short ph... ORPHA:221016
Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Spinal rigid... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Spinal rigid... ORPHA:98853
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
White-Kernohan Syndrome
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Obesity, Attention deficit h... OMIM:619426
Distal Triplication 15Q
Arachnodactyly, Craniosynostosis, Micrognathia, Kyphosis, Flexion contracture, Abnormal sternum m... ORPHA:314588
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Bowed humerus, Short stature, Kyphoscoliosis, Recurrent fractures, Dentinogenesis i... OMIM:616507
Sandhoff Disease
Exaggerated startle response, Ataxia, Bilateral tonic-clonic seizure, Impaired temperature sensat... OMIM:268800
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Bilateral tonic-clonic seizu... ORPHA:3044
Blue Diaper Syndrome
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:94086
Kallmann Syndrome
Ataxia, Anosmia, Obesity, Seizure, Gait disturbance, Delayed puberty, Hyposmia ORPHA:478
Pallister-Hall Syndrome
Hemivertebrae, Depressed nasal ridge, Paroxysmal bursts of laughter, Bifid uvula, Microretrognath... ORPHA:672
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short neck, Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greate... OMIM:617925
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... OMIM:606895
Warburg Micro Syndrome 2
Postnatal growth retardation, Short nose, Prominent nasal bridge OMIM:614225
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Femoral bowing, Pectus carinatum, Foot oligodactyly, High palate, Apla... OMIM:276820
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Abno... ORPHA:2588
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Prominent nasal bridge, Simple febrile seizure, Tapered finger, Ankle flexion contracture, Kyphos... ORPHA:464311
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia, Focal impaired ... OMIM:619983
Hermansky-Pudlak Syndrome 10
Bilateral tonic-clonic seizure, Focal myoclonic seizure, EEG abnormality, Dystonia, Retrognathia,... OMIM:617050
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Joi... ORPHA:2167
Jacobsen Syndrome
U-Shaped upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Short neck,... OMIM:147791
Carpenter Syndrome
Umbilical hernia, Obesity, Polysplenia ORPHA:65759
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, S... OMIM:278250
Alexander Disease
Osteopenia, Ataxia, Hyperlordosis, Short neck, Kyphosis, Chorea, Tremor, Depression, EEG abnormal... ORPHA:58
Arterial Tortuosity Syndrome
Long palm, Arachnodactyly, Rocker bottom foot, Coxa valga, Avascular necrosis of the capital femo... ORPHA:3342
Sotos Syndrome
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Aggressive behavior, Broad nasal... OMIM:117550
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Distal arthrogryposis, Ataxia, Bil... ORPHA:42
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Dystonia, Hypoglyc... ORPHA:480864
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:91355
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Choanal stenosis, High palate, Spina b... OMIM:218600
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Hyperactivity, Toe syndactyly, Arachnodactyly, Narrow nasal tip, Prominent nasal b... ORPHA:464306
Fontaine Progeroid Syndrome
Mandibular prognathia, Micrognathia, High, narrow palate, Oligodontia, Microdontia, Neonatal deat... OMIM:612289
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Floating-Harbor Syndrome
Short neck, Short middle phalanx of the 2nd finger, Prominent nose, Downturned corners of mouth, ... OMIM:136140
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contracture, Seizure OMIM:603387
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Choanal atresia, Cleft lip, Anosmia, Dental malocclusion, Cleft palat... OMIM:603457
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Barrel-shaped chest, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Me... OMIM:259770
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin... OMIM:619503
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger,... ORPHA:363611
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis OMIM:615630
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth,... ORPHA:500150
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Wide mouth, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:616083
Retinitis Pigmentosa 51
Obesity OMIM:613464
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Short statur... OMIM:239000
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... OMIM:617821
Ulbright-Hodes Syndrome
Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short metacarpa... ORPHA:3404
Wilson Disease
Hepatomegaly, Aggressive behavior, Hypersexuality, Splenomegaly, Jaundice, Hepatitis, Increased b... ORPHA:905
Carpenter Syndrome 1
Depressed nasal bridge, Short stature, Micrognathia, Hypoplasia of the maxilla, Persistence of pr... OMIM:201000
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, High palate, Short s... ORPHA:2834
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T... OMIM:300607
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Dental malocclusion, Diaphyseal sclerosis, Short stature OMIM:259730
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Intrauterine growth retardation, Bilateral tonic-clonic seizure, Short stature, Underdeveloped na... ORPHA:423479
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Short nose, Epistaxis OMIM:277450
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Short stature, Kyphosis, Flared nostrils, Wide nasal bridge, Short columell... OMIM:182210
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Posta... OMIM:615948
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decreased response to gro... OMIM:203800
Distal Deletion 12Q
Hyperactivity, Anteverted nares, Short stature, Failure to thrive in infancy, Micrognathia, Bulbo... ORPHA:96149
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Joint dislocation, Thin upper lip vermilion, Joint laxity, Arachnodactyly, Dys... OMIM:601776
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Thin upper lip vermilion, Short fourth metatarsal, Overlapping toe, Short stature, Kyphosis, Bila... OMIM:619557
Adiposis Dolorosa
Hypothyroidism, Xerostomia, Obesity ORPHA:36397
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure with fo... OMIM:620024
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Kyphosis, Flexion contracture, Ankle clonus, Scoliosis OMIM:609541
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... ORPHA:3003
Keppen-Lubinsky Syndrome
Narrow nasal bridge, Tented upper lip vermilion, Micrognathia, Underdeveloped nasal alae, Postnat... ORPHA:435628
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Calcification of the auricular cartilage, Short stature, Pectus excavatum, Kypho... ORPHA:3042
Classic Homocystinuria
Arachnodactyly, Dental crowding, Anorexia, Recurrent fractures, Joint stiffness, Kyphosis, Pectus... ORPHA:394
Toriello-Lacassie-Droste Syndrome
Growth delay, Short nose, Failure to thrive, Anteverted nares ORPHA:3339
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Mental deterioration, Generalized no... ORPHA:395
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Joint stiffness, Flexion contracture, Lumb... ORPHA:505248
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Melas
Short attention span, Ataxia, Bilateral tonic-clonic seizure, Short stature, Focal-onset seizure,... ORPHA:550
Trichothiodystrophy 1, Photosensitive
Small for gestational age, Short nose, Retrognathia, Short stature OMIM:601675
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Abdominal obesity, Obesity OMIM:219090
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Aggressive behavior, Micrognathia, Wide nasal bridge, Seizure, Trun... ORPHA:529962
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclonus ORPHA:309155
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short ph... OMIM:619127
Cerebrocostomandibular Syndrome
Short stature, Tracheomalacia, Micrognathia, Kyphosis, Posterior rib gap, Cleft palate, Bell-shap... ORPHA:1393
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Thin upper lip vermilion, Generalized-onset seizure, Depressed nasal bridge, Ataxia, ... OMIM:212065
Sotos Syndrome
Accelerated skeletal maturation, Tremor, No permanent dentition, Flexion contracture, Abnormal ve... ORPHA:821
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Aggressive behavior, Hypothyroidism, Obesity, Congenital hypothyroidism,... OMIM:607872
Lowe Oculocerebrorenal Syndrome
Short stature, Camptodactyly of finger, Osteomalacia, Aggressive behavior, Wrist swelling, Kyphos... OMIM:309000
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Overweight, Inability to walk, Obesity, Seizure, Gait disturbance, Dysphagia ORPHA:2822
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Tongue atrophy, Ataxia, Kyphosis, Dysphagia, Ankle clonus, Tongue fasciculat... OMIM:211530
Borjeson-Forssman-Lehmann Syndrome
Seizure, Short stature, Truncal obesity ORPHA:127
Rothmund-Thomson Syndrome Type 1
Osteopenia, Patellar hypoplasia, Microdontia, Short phalanx of finger, Genu varum, Short metacarp... ORPHA:221008
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Bilateral tonic-clonic seizure with focal onset, Short stature, Unsteady gait, Obesity, S... OMIM:614947
Lujo Hemorrhagic Fever
Resting tremor, Stiff neck, Bilateral tonic-clonic seizure, Confusion, Seizure, Rhinitis, Dysphag... ORPHA:319213
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Anorexia, Kyphosis, Osteoarthritis, Delayed skeletal ... ORPHA:77259
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Vertebral compression fracture ORPHA:85193
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Short stature, Cleft soft palate, Micrognathia, Short neck, Wide nasal bridge, ... ORPHA:2282
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... OMIM:614098
Ataxia-Oculomotor Apraxia 4
Ataxia, Obesity OMIM:616267
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Dysphagia, Spinal rigidity ORPHA:352447
Kabuki Syndrome 1
Joint dislocation, Congenital hip dislocation, Short stature, Bilateral tonic-clonic seizure with... OMIM:147920
Nance-Horan Syndrome
Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Broad finger, Supernumerary max... OMIM:302350
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity OMIM:615084
Aspartylglucosaminuria
Joint laxity, Anteverted nares, Depressed nasal bridge, Short stature, Kyphosis, Delayed skeletal... OMIM:208400
Ring Chromosome Y Syndrome
Male hypogonadism, Streak ovary, Obesity ORPHA:261529
Okamoto Syndrome
Exaggerated median tongue furrow, Prominent metopic ridge, Tented upper lip vermilion, Depressed ... ORPHA:2729
Peters Plus Syndrome
Micromelia, Short neck, Micrognathia, Widely spaced teeth, Clinodactyly of the 5th finger, Spina ... ORPHA:709
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Short neck, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Reduce... ORPHA:99413
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Accelerated skeletal matura... ORPHA:93317
Mosaic Monosomy X
Osteopenia, Short neck, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Reduce... ORPHA:99228
Monosomy X
Osteopenia, Short neck, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Reduce... ORPHA:99226
Turner Syndrome
Osteopenia, Short neck, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Reduce... ORPHA:881
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Obesity OMIM:615418
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Flat nasal alae, Bilatera... OMIM:610828
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, A... ORPHA:100924
Cockayne Syndrome Type 3
Mild postnatal growth retardation, Progressive neurologic deterioration, Carious teeth, Kyphosis,... ORPHA:90324
Cardiofacioneurodevelopmental Syndrome
Micrognathia, Kyphosis, Cleft lip, Cleft palate, Camptodactyly, Clinodactyly of the 5th finger, B... OMIM:619123
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met... ORPHA:99646
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tented upper lip vermilion, Short neck, Micrognathia, Widely-spaced maxillary central incisors, H... OMIM:309580
Marfan Syndrome
Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Mi... ORPHA:558
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Ataxia, Short stature, Seizure, Truncal obesity, Status epilepticus, M... OMIM:301072
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Obesity OMIM:194072
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, Neonata... OMIM:615501
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte... OMIM:216340
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Decreased nerve conduction velocity, Knee flexi... OMIM:618733
Hartsfield Syndrome
Syndactyly, Wide nose, Median cleft lip, Bilateral tonic-clonic seizure, Craniosynostosis, Cleft ... OMIM:615465
Autosomal Recessive Spastic Paraplegia Type 35
Generalized dystonia, Kyphosis, Dysmetria, Ankle clonus, Seizure, Dysdiadochokinesis, Cognitive i... ORPHA:171629
Hyperekplexia 3
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Aplasia of the nasal bone, Kyphoscoliosis, Micrognathia, Joint stiffness, Attention d... OMIM:618820
Xq21 Microdeletion Syndrome
Ataxia, Postnatal growth retardation, Obesity, Gait ataxia, Growth delay, Seizure, Dysdiadochokin... ORPHA:1435
Noonan Syndrome 3
Hypoplastic nasal bridge, Anteverted nares, Short stature, Sagittal craniosynostosis, Pectus exca... OMIM:609942
Molybdenum Cofactor Deficiency, Complementation Group A
Opisthotonus, Growth delay, Seizure, Thick vermilion border, Myoclonic spasms, Long philtrum, Sho... OMIM:252150
Gaucher Disease
Joint dislocation, Osteopenia, Tremor, Osteoarthritis, Bone pain, Avascular necrosis, Increased b... ORPHA:355
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... OMIM:228900
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... ORPHA:99889
Cdags Syndrome
Sagittal craniosynostosis, Kyphosis, Cleft palate, Short ribs, Lambdoidal craniosynostosis, Short... OMIM:603116
Fucosidosis
Kyphosis, Seizure, Anterior beaking of lumbar vertebrae, Abnormality of the dentition ORPHA:349
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure, Short stature, Delayed skeletal maturation, Growth delay, Oral le... OMIM:618165
6Q Terminal Deletion Syndrome
Micrognathia, Obesity, Dysmetria, Hypsarrhythmia, Gait ataxia, Seizure, Failure to thrive ORPHA:75857
Acromegaly
Mandibular prognathia, Broad jaw, Wide nose, Macrodactyly, Tapered finger, Abnormality of the den... ORPHA:963
Ramon Syndrome
Delayed eruption of teeth, Short stature, Kyphosis, Gingival fibromatosis, Narrow palate, Seizure... OMIM:266270
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Bilateral tonic-clonic seizure, Tremor, Seizure, Cognitive impairment, Dystonia, Intraute... OMIM:610505
Somatomammotropinoma
Mandibular prognathia, Broad jaw, Wide nose, Macrodactyly, Tapered finger, Abnormality of the den... ORPHA:314769
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Progressive neur... OMIM:254780
De Sanctis-Cacchione Syndrome
Severe short stature, Ataxia, Bilateral tonic-clonic seizure, Mental deterioration, Choreoathetos... OMIM:278800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Small for gestational age, Increased circulating free fatty acid level, Overweight,... ORPHA:26793
Microphthalmia, Syndromic 3
Vertebral fusion, Short stature, Missing ribs, Postnatal growth retardation, Rib fusion, Hemivert... OMIM:206900
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Micromelia, Short neck, Postaxial hand polydactyly, Short nose OMIM:200995
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Tip-toe gait, Spastic gait, Obesity OMIM:617296
Ear-Patella-Short Stature Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Bif... ORPHA:2554
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Abdominal obesity, Intrauterine growth retardation, Short nose, Convex nasal ridge OMIM:619321
Diamond-Blackfan Anemia 21
Short stature, Obesity, Micrognathia OMIM:620072
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Seizure, Bilateral tonic-clonic seizure OMIM:620300
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Kabuki Syndrome
Short stature, Obesity, Seizure, EEG abnormality, Short columella, Failure to thrive ORPHA:2322
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Short stature, Horizontal ribs, Lateral clavicle hook, Early ossification... OMIM:208500
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Calcification of the auricular cartilage, Osteomalacia, Stippled calcifi... ORPHA:51608
Degcags Syndrome
Osteopenia, Micrognathia, Prominent nose, Oral-pharyngeal dysphagia, High palate, Long philtrum, ... OMIM:619488
Joubert Syndrome 8
Ataxia, Obesity OMIM:612291
Atypical Werner Syndrome
Hepatic steatosis, Failure to thrive, Diabetes mellitus, Lipoatrophy, Hypertriglyceridemia, Abnor... ORPHA:79474
Pallister-Killian Syndrome
Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Short ne... OMIM:601803
Aromatase Deficiency
Eunuchoid habitus, Hypergonadotropic hypogonadism, Hyperlipidemia, Obesity, Type II diabetes mell... ORPHA:91
Vater/Vacterl Association
Syndactyly, Abnormal nasopharynx morphology, Laryngeal stenosis, Choanal atresia, Absent radius, ... OMIM:192350
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Prominent nasal bridge, Pectus excavatum, Short toe, Wide nasal bridge, Orofac... ORPHA:1519
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis, Dysphagia OMIM:617143
Cowden Syndrome
Ataxia, Short stature, Pectus excavatum, Kyphosis, Furrowed tongue, Seizure, Macroglossia, Palmop... ORPHA:201
Loeys-Dietz Syndrome 6
Arachnodactyly, Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Intervertebral d... OMIM:619656
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal pelvis bone morphology, Severe short stature, Camptodactyly of finger, Abnormality of th... ORPHA:2273
Peripartum Cardiomyopathy
Diabetes mellitus, Abnormality of thyroid physiology, Obesity ORPHA:563
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Biliary tract abnormality, Obesity, Truncal ob... OMIM:209900
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Growth delay, Recurrent upper respiratory tract infections, Bilateral tonic-clonic seizure ORPHA:436159
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity, Short stature OMIM:617547
Neutral Lipid Storage Disease With Ichthyosis
Short stature, Ataxia, Obesity, Difficulty walking ORPHA:98907
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Epileptic spasm, Exaggerated startle response, Short stature, Dystonia,... ORPHA:438213
22Q11.2 Deletion Syndrome
Short stature, Prominent nasal bridge, Choanal atresia, Abnormal dental enamel morphology, Microg... ORPHA:567
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo... OMIM:305100
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... OMIM:619835
Neurofibromatosis Type 1
Ataxia, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Slender long ... ORPHA:636
Proteus Syndrome
Abnormal finger morphology, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger... ORPHA:744
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Obesity, Increased circulating... ORPHA:90041
Bardet-Biedl Syndrome 20
Male hypogonadism, Hypercholesterolemia, Pancreatitis, Obesity OMIM:619471
Cocaine Intoxication
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Atypical absence status epilepticus,... ORPHA:90068
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Gait ataxia, Seizure,... ORPHA:255210
Bloom Syndrome
Small for gestational age, Micrognathia, Growth delay, Severe postnatal growth retardation, Abdom... ORPHA:125
Holoprosencephaly 14
Median cleft lip, Anteverted nares, Bilateral tonic-clonic seizure, Proboscis, Cleft lip, Cleft p... OMIM:619895
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Short nose, Hypoplasia of the ... OMIM:229400
Branchiooculofacial Syndrome
Single transverse palmar crease, Proximal placement of thumb, Short neck, Micrognathia, Clinodact... OMIM:113620
17Q11 Microdeletion Syndrome
Osteopenia, Short attention span, Depressed nasal bridge, Short stature, Bowing of the legs, Kyph... ORPHA:97685
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality o... ORPHA:93111
Neutral Lipid Storage Myopathy
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Chronic pancreatitis, Obesity, Pineal cyst... ORPHA:98908
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Multiple Endocrine Neoplasia, Type Iib
Joint laxity, Hyperlordosis, Pectus excavatum, High, narrow palate, Kyphosis, Thick lower lip ver... OMIM:162300
Roberts-Sc Phocomelia Syndrome
Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wri... OMIM:268300
Isolated Permanent Neonatal Diabetes Mellitus
Prominent metopic ridge, Ataxia, Bilateral tonic-clonic seizure, Downturned corners of mouth, Low... ORPHA:99885
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Wide nose, Congenital hip dislocation, Prominent nasa... OMIM:606170
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, High, narrow palate, Abnormal sternum morphology, High palate, Scoliosis OMIM:177850
Ulnar-Mammary Syndrome
Obesity, Hernia of the abdominal wall, Camptodactyly of finger, Delayed puberty ORPHA:3138
Arteriosclerosis, Severe Juvenile
Short stature, Hip dysplasia, Delayed puberty, Dysplasia of second lumbar vertebra, Short phalanx... OMIM:208060
Biotinidase Deficiency
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Seizure, Generaliz... ORPHA:79241
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hyposmia, Abnormal repetitive mannerisms, Obesity, Difficulty walking OMIM:618653
Xylt1-Cdg
Growth delay, Truncal obesity, Short stature ORPHA:370930
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Genu valgum, Seizure, Dysph... ORPHA:488627
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure, Short stature OMIM:300578
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:615474
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Thin upper lip vermilion, Small hypothenar eminence, Lumbar hyperlordosis, Decreased ... ORPHA:2232
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Digeorge Syndrome
Pilonidal sinus, Short stature, Micrognathia, High, narrow palate, Cleft palate, Seizure, High pa... OMIM:188400
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Long toe, Depressed nasal bridge, Short stature, Aggressive behavior, Postnatal growth retardatio... OMIM:613355
Lipodystrophy, Familial Partial, Type 7
Small for gestational age, Narrow nasal ridge, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dyspha... OMIM:606721
Generalized Pustular Psoriasis
Overweight, Obesity ORPHA:247353
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Inguinal hernia, Congenital diaphragmatic h... ORPHA:116
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Carney Complex
Neoplasm of the pancreas, Tall stature, Euthyroid multinodular goiter, Dorsocervical fat pad, Fol... ORPHA:1359
Viss Syndrome
Micrognathia, High, narrow palate, Generalized joint laxity, Pectus carinatum, High palate, Broad... OMIM:619472
Lymphedema-Distichiasis Syndrome
Kyphosis, Cleft palate, Cleft upper lip, Micrognathia OMIM:153400
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Generalized-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Truncal ataxia OMIM:620066
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis OMIM:106300
Mitochondrial Complex I Deficiency, Nuclear Type 1
Growth delay, Ataxia, Tongue fasciculations, Bilateral tonic-clonic seizure OMIM:252010
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Increased circulating gonadotropin level, Obesity, Delayed puberty, Decreased serum... ORPHA:1772
Retinitis Pigmentosa 74
Obesity OMIM:616562
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure ORPHA:79124
African Trypanosomiasis
Hepatomegaly, Aggressive behavior, Abnormality of the endocrine system, Narcolepsy, Jaundice, Spl... ORPHA:3385
Triosephosphate Isomerase Deficiency
Tremor, Kyphosis, Dystonia OMIM:615512
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Seizure, Scoliosis, Dysphagia OMIM:619482
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Seizure, Ataxia, Myoclonus, Bilateral tonic-clonic seizure OMIM:618426
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Truncal obesity, Failure to thrive, Pancreatitis OMIM:222700
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Absence of subcutaneous fat, Weight loss, Severe fai... ORPHA:740
Craniofacial Microsomia 1
Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Partial duplication of... OMIM:164210
Ulnar-Mammary Syndrome
Inguinal hernia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Elbow flexion contra... OMIM:181450
Tako-Tsubo Cardiomyopathy
Seizure, Obesity ORPHA:66529
Penile Agenesis
Short nose, Depressed nasal bridge ORPHA:49
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Short long bone, Bilateral ta... OMIM:306955
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Chronic Thromboembolic Pulmonary Hypertension
Obesity ORPHA:70591
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Joint laxity, Thin upper lip vermilion, Wide nose, Sandal gap, Decreased nerve conduction velocit... ORPHA:477817

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rai1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rai1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Retinoic acid-induced protein 14 controls dendritic spine dynamics associated with depressive-like behaviors. eLife (April 2022) Rai14em1(IMPC)J PMC9068211

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Rai1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rai1tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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