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Gene: Arl6 MGI:1927136

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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:
ADP-ribosylation factor-like 6
Synonyms:
1110018H24Rik,  BBS3,  2210411E14Rik

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 Arl6 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 Arl6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardioacrofacial Dysplasia 1
Conical tooth, Hypoplasia of the maxilla, Diastema, Atrioventricular canal defect, Genu valgum, C... OMIM:619142
Retinitis Pigmentosa 55
Rod-cone dystrophy OMIM:613575
Dislocation Of The Hip-Dysmorphism Syndrome
Wide nasal bridge, Congenital hip dislocation, Depressed nasal ridge, Deviation of finger, Anteve... ORPHA:2412
Familial Median Cleft Of The Upper And Lower Lips
Diastema, Cleft upper lip, Abnormal mandible morphology, Irregular dentition, Cleft lower lip, Me... ORPHA:401942
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Prominence of the premaxilla, Narro... OMIM:137550
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Respiratory distress, Anteve... ORPHA:1832
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Microdontia, Thin upper lip v... OMIM:619736
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Micrognathia, Neonatal death, Anal atresia, Cleft lip, Hamartoma of ton... OMIM:617925
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Microglossia, Respiratory distress, Temporomandibular joint ankylo... ORPHA:141152
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Hydrocephalus, Dandy-Walker malformation, Orbital craniosynostosis ORPHA:1538
Malan Syndrome
Retrognathia, Cutis marmorata, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, ... OMIM:614753
Hamamy Syndrome
Micrognathia, Everted lower lip vermilion, Atrial septal defect, High palate, Syndactyly, Neck pt... OMIM:611174
Frontonasal Dysplasia 1
Wide nasal bridge, Cranium bifidum occultum, Hypoplasia of the maxilla, Joint contracture of the ... OMIM:136760
Filippi Syndrome
Wide nasal bridge, 2-4 toe syndactyly, Underdeveloped nasal alae, Finger clinodactyly, Serrated i... OMIM:272440
Rubinstein-Taybi Syndrome 2
Talon cusp, Carious teeth, Dental malocclusion, Retrognathia, Broad thumb, Short 5th toe, Intesti... OMIM:613684
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Prominent nose, Prominence of the premaxilla, Delayed closure of the anterior ... OMIM:614886
Aarskog-Scott Syndrome
Genu recurvatum, Abnormality of the dentition, Hypoplasia of the maxilla, Wide nasal bridge, Smal... ORPHA:915
Disorganization, Mouse, Homolog Of
Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate OMIM:223200
Lowry-Maclean Syndrome
Delayed eruption of teeth, Abnormal heart morphology, Convex nasal ridge, Craniosynostosis, Cleft... OMIM:600252
Perching Syndrome
Depressed nasal bridge, Respiratory distress, Cyanosis, Camptodactyly, High palate OMIM:617055
Mmep Syndrome
Ventricular septal defect, Median cleft upper lip, Orofacial cleft, Triphalangeal thumb, Mandibul... ORPHA:3434
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar... ORPHA:363417
Recon Progeroid Syndrome
Dental crowding, Progeroid facial appearance, Underdeveloped nasal alae, Anteverted nares, Promin... OMIM:620370
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,... OMIM:311895
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Intellectual Disability, Birk-Barel Type
High, narrow palate, Broad nasal tip, Narrow nasal bridge, Micrognathia, Tented upper lip vermili... ORPHA:166108
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Unilateral radial... ORPHA:476126
Maxillonasal Dysplasia
Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal bridge, Short distal phalanx of... ORPHA:1248
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Intellectual Disability, Wolff Type
Wide nasal bridge, Short distal phalanx of finger, Microretrognathia, Broad thumb, Thick lower li... ORPHA:3080
Clark-Baraitser syndrome
Genu recurvatum, Broad nasal tip, Exaggerated median tongue furrow, Thick lower lip vermilion, An... OMIM:300602
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Respiratory distr... OMIM:614669
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Genu valgum, Malar flattening, Hypodontia,... ORPHA:2972
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Short Stature-Wormian Bones-Dextrocardia Syndrome
Wide nasal bridge, Delayed eruption of teeth, Tooth agenesis, Camptodactyly of finger, Depressed ... ORPHA:2863
Burn-Mckeown Syndrome
Bifid uvula, Choanal atresia, Bilateral choanal atresia, Cleft upper lip, Bilateral choanal atres... OMIM:608572
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Abnormal dental mor... ORPHA:2025
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Cleft ala nasi, Convex nasal ridge, Non-midline cle... ORPHA:2007
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Dental malocclusion, Mandibular osteomyelitis... ORPHA:83451
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Microglossia, Occipital encephalocele, Toe syndactyly, Postaxial foot pol... OMIM:241800
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Broad nasal tip, Dental malocclusion, Cutis marmorata, Limited elbow ... OMIM:619719
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Finger syndactyly, Open ... OMIM:200990
Chromosome 1P36 Deletion Syndrome, Proximal
Bifid nasal tip, Cleft lip, Dilated cardiomyopathy, Clinodactyly, Biventricular hypertrophy, Coro... OMIM:619343
Meier-Gorlin Syndrome 7
Narrow mouth, Ventricular septal defect, Aplasia/Hypoplasia of the patella, Atrial septal defect,... OMIM:617063
Pierre Robin Syndrome
Cor pulmonale, Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Wide nasal bridge, Depressed nasal ridge, Underdeveloped nasal alae, Cervical ribs, Intestinal ma... ORPHA:77300
Pyle Disease
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... OMIM:265900
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Tetralogy of Fallot, Malar flattening, Abnor... ORPHA:1919
Charlie M Syndrome
Wide nasal bridge, Finger syndactyly, Tooth agenesis, Micrognathia, Narrow mouth, Triphalangeal t... ORPHA:1406
3Mc Syndrome 2
Wide nasal bridge, Caudal appendage, Downturned corners of mouth, Cleft upper lip, Depressed nasa... OMIM:265050
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Ventriculomegaly, Hydrocephalus OMIM:604213
Craniofacial-Deafness-Hand Syndrome
Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal bridge, Ulnar deviation of fing... ORPHA:1529
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Premature skin wrinkling, Split foot, Orofacial cleft, Wi... OMIM:601349
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Delayed cranial suture closure, Aplasia/Hypoplasia of... OMIM:113000
Craniotelencephalic Dysplasia
Optic atrophy, Agenesis of corpus callosum, Hydrocephalus, Frontal encephalocele, Craniosynostosi... ORPHA:1528
Odontochondrodysplasia
Dentinogenesis imperfecta, Depressed nasal bridge, Cone-shaped epiphysis, Square pelvis bone, Del... ORPHA:166272
Marshall-Smith Syndrome
Irregular dentition, Death in childhood, Prominence of the premaxilla, Ventricular septal defect,... OMIM:602535
X-Linked Intellectual Disability, Siderius Type
Orofacial cleft, Broad nasal tip, Cleft upper lip, Preaxial hand polydactyly ORPHA:85287
Orofaciodigital Syndrome Xvii
High, narrow palate, Retrognathia, Clinodactyly, Clubbing of fingers, Tetralogy of Fallot, Promin... OMIM:617926
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Hypop... OMIM:252100
Bartsocas-Papas Syndrome 2
Axillary pterygium, Small hand, Popliteal pterygium, Micrognathia, Absent distal phalanges, Bilat... OMIM:619339
Lowry-Maclean Syndrome
High, narrow palate, Choanal atresia, Hypoplasia of the maxilla, Downturned corners of mouth, Ret... ORPHA:2409
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Anteverted nares, Increas... OMIM:618761
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Flared metaphysis, Short 5th metacarpal, Short middle phalanx of the 2... OMIM:156510
Optic Atrophy 16
Paroxysmal tachycardia, Temporal optic disc pallor OMIM:620629
Congenital Disorder Of Glycosylation, Type Iy
Joint dislocation, Clinodactyly, Widely spaced teeth, Respiratory distress, Micrognathia, Wide mouth OMIM:300934
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Abnormal epiphysis morphology, Long philtrum, Abnormal vertebral epiph... ORPHA:90653
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Anteverted nares, Agenesis of premolar, Taurodontia, Pu... OMIM:166750
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Narrow mout... OMIM:257850
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Abnormal epiphysis morphology, Delayed eruption of teeth, Short 1st metacarpa... ORPHA:63442
Zechi-Ceide Syndrome
Wide nasal bridge, Short distal phalanx of finger, Sandal gap, Cleft upper lip, Underdeveloped na... OMIM:612916
Oculomaxillofacial Dysostosis
Tessier cleft, Abnormality of the dentition, Wide nasal bridge, Abnormality of the nose, Underdev... ORPHA:1794
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Craniometadiaphyseal Dysplasia
Carious teeth, Dental crowding, Natal tooth, Absent paranasal sinuses, Broad long bones, Flared m... OMIM:269300
Orofaciodigital Syndrome Xix
Carious teeth, Toe syndactyly, Postaxial foot polydactyly, Cleft soft palate, Narrow mouth, High ... OMIM:620107
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad fi... ORPHA:2751
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Anteverted nares, Exaggerated cupid's bow, Ventricular septa... OMIM:618506
Tetrasomy 5P
Wide nasal bridge, Long philtrum, Respiratory distress, Anteverted nares, Micrognathia, Overlappi... ORPHA:3309
Frank-Ter Haar Syndrome
Genu recurvatum, Wide nasal bridge, Mandibular prognathia, Depressed nasal bridge, Delayed erupti... ORPHA:137834
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Broad nasal tip, Small epiphyses, Genu val... ORPHA:166016
Liang-Wang Syndrome
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Downturned corners of mout... OMIM:618729
Congenital Hydrocephalus
Optic atrophy, Ventriculomegaly, Macular hypoplasia, Colpocephaly, Hydrocephalus ORPHA:2185
Atkin-Flaitz Syndrome
Abnormality of the dentition, Broad nasal tip, Anteverted nares, Everted lower lip vermilion, Thi... ORPHA:1193
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Micrognathia, Proximal radial head dislocation, So... OMIM:602418
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Postaxial polydactyly type A, Broad hallux, Hamartoma of tongue, Complete atrioventricular canal ... OMIM:217085
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Vitreous floaters, Arrhythmia, Abnormal autonomic nervous... ORPHA:85447
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Shoulder flexion contracture, Retrognathia, Pursed lips, Camptodactyly of... OMIM:619110
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Bruising susceptibility... ORPHA:49042
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Microphthalmia With Limb Anomalies
Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, High palate, 2-5 toe syndactyly, Hip... OMIM:206920
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Wide nasal bridge, Depressed nasal bridge, Angel-shaped phalanx, Carious teeth, Short distal phal... OMIM:617102
Rhizomelic Syndrome, Urbach Type
Depressed nasal bridge, Hip dislocation, Short distal phalanx of finger, Abnormal epiphysis morph... ORPHA:3098
Intellectual Developmental Disorder, Autosomal Dominant 21
Long philtrum, Narrow mouth, Atrial septal defect, Thin vermilion border, Incisor macrodontia, Cl... OMIM:615502
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Optic disc pallor, Primary amenorrhea, Tachycardia, Retrobulbar optic... OMIM:619737
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Cleft upper lip, 11 pairs of ribs, Median cleft palate, Encephalocele... OMIM:264480
Caribbean Parkinsonism
Autonomic bladder dysfunction, Ventriculomegaly, Orthostatic hypotension, Abnormal autonomic nerv... ORPHA:97355
Developmental And Epileptic Encephalopathy 66
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Downturned corners of mout... OMIM:618067
Skraban-Deardorff Syndrome
Depressed nasal bridge, Hyperplasia of the maxilla, Widely spaced teeth, Thick upper lip vermilio... OMIM:617616
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Micrognathia, Thin upper lip vermilion, Short nose, Cleft palate ORPHA:2015
Camptodactyly Syndrome, Guadalajara Type 1
Depressed nasal bridge, Short distal phalanx of finger, Toe syndactyly, Dental malocclusion, Down... ORPHA:1327
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep philtrum, Bra... OMIM:605282
Chromosome 3Pter-P25 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Downturned corners of mouth, Long phi... OMIM:613792
Opitz Gbbb Syndrome
Wide nasal bridge, Unilateral cleft lip, Cleft upper lip, Umbilical hernia, Rectourethral fistula... OMIM:300000
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Hypoplasia of the maxilla, Broad thumb, Aplastic clavicle, Delaye... OMIM:620099
Temple-Baraitser Syndrome
Broad thumb, Everted upper lip vermilion, Long hallux, Open mouth, Everted lower lip vermilion, H... ORPHA:420561
Laron Syndrome
Depressed nasal ridge, Hypoplastic nasal bridge, Delayed eruption of teeth, Aplasia/Hypoplasia in... ORPHA:633
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Congenital hip dislocation, Retrognathia,... OMIM:300280
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Mitral valve prolapse, Radioulnar synostosis, Submucous cleft har... ORPHA:2712
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Broad thumb, Long philtrum,... ORPHA:261295
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Downturned corners of mouth, Anteriorly placed anus, Cardiomyopathy, Resp... OMIM:217980
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Short 5th finger, Broad nasal tip, Cleft upper lip, Abnormal heart morphology, Mic... OMIM:239800
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Catel-Manzke Syndrome
Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Micrognathia, Radial devia... ORPHA:1388
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Spermatogenic Failure 20
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Genitopalatocardiac Syndrome
Cleft upper lip, Micrognathia, Ventricular septal defect, Transposition of the great arteries, Do... OMIM:231060
Marshall Syndrome
Radial bowing, Thick upper lip vermilion, Micrognathia, Absent frontal sinuses, Knee osteoarthrit... OMIM:154780
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Depressed nasal ridge, Joint dislocation, Cleft upper lip, Short finger, Hypoplastic h... OMIM:312150
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Diamond-Blackfan Anemia 6
Bifid uvula, Ventricular hypertrophy, Retrognathia, Cleft upper lip, Short thumb, Tetralogy of Fa... OMIM:612561
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ventricular septal defect, Short hallux, Dysplastic aortic valve, Cleft maxillary... ORPHA:508488
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Cone-shaped epiphysis, Unilateral cleft lip, Delayed cranial suture closure, Abnormality of the w... ORPHA:2511
Riboflavin Transporter Deficiency
Abnormality of macular pigmentation, Hypogonadism, Abnormal cranial nerve morphology, Abnormal au... ORPHA:97229
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Atrioventricular canal defect, Short first metatarsal, Anteverted nares, Mi... OMIM:619135
Pierre Robin Syndrome And Oligodactyly
Finger aplasia, Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Lujan-Fryns Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodactyly of finger... ORPHA:776
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Cleft soft palate, Micrognathia, Short nose, Oligodontia, Thin upper l... OMIM:616331
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Facial wrinkling, Micrognathia, Anal at... OMIM:305450
Holzgreve Syndrome
Hypoplastic left heart, Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bifid uvula, Joint contracture of the hand, Depressed nasal bridge, Dental malocclusion, Delayed ... OMIM:612350
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Micrognathia, Death in infancy, Thin upper lip vermilion, High palate, Shor... OMIM:615042
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Wide nasal bridge, Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of prima... OMIM:618342
Ellis-Van Creveld Syndrome
Postaxial foot polydactyly, Natal tooth, Delayed eruption of teeth, Cleft upper lip, Acetabular s... OMIM:225500
Amelogenesis Imperfecta
Abnormal jaw morphology, Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hyp... ORPHA:88661
Atelosteogenesis, Type Iii
Depressed nasal bridge, Hypoplasia of the maxilla, Tombstone-shaped proximal phalanges, Elbow dis... OMIM:108721
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Bowing of the arm, Micrognathia, Cleft palate, Bowing of t... OMIM:249710
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Short distal phalanx of finger, Broad nasal tip, Downturned corners of mouth, ... OMIM:239300
Robinow Syndrome, Autosomal Recessive 2
Wide nasal bridge, Abnormality of the dentition, Broad nasal tip, Broad thumb, Clinodactyly, Long... OMIM:618529
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Coffin-Siris Syndrome 2
Depressed nasal bridge, Short distal phalanx of finger, Delayed eruption of teeth, Long philtrum,... OMIM:614607
Odontochondrodysplasia 1
Genu recurvatum, Dentinogenesis imperfecta, Metaphyseal cupping, Delayed eruption of teeth, Long ... OMIM:184260
Leopard Syndrome 1
Depressed nasal ridge, Hyposmia, Hypertrophic cardiomyopathy, Complete atrioventricular canal def... OMIM:151100
Holoprosencephaly 9
Hypoplasia of the premaxilla, Bilateral cleft palate, Short hard palate, Short nose, Choanal atre... OMIM:610829
Acrodysostosis
Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol... ORPHA:950
Keipert Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Broad thumb, Short distal phalanx of finger, B... ORPHA:2662
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Optic atrophy, Hydrocephalus OMIM:619470
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip, Short distal phalanx of... ORPHA:2776
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Retinal dysplasia, Hydrocephalus OMIM:614830
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, E... ORPHA:1106
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Micrognathia, Genu valgum, Abnormal metacarpal mo... ORPHA:1452
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla OMIM:618383
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Craniolenticulosutural Dysplasia
Wide nasal bridge, Bifid uvula, Carious teeth, High iliac wing, Delayed eruption of teeth, Long p... OMIM:607812
Distal Deletion 10P
Wide nasal bridge, Micrognathia, Ectopic anus, Convex nasal ridge, Clinodactyly of the 5th finger... ORPHA:1580
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Ectopic accessory finger-like appendage, Postaxial foot polydac... ORPHA:2919
Rapp-Hodgkin Syndrome
2-3 toe cutaneous syndactyly, Bifid uvula, Conical tooth, Carious teeth, Hypoplasia of the maxill... OMIM:129400
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Flexion contracture, Hydrocephalus OMIM:300884
Bartsocas-Papas Syndrome
Synostosis of joints, Popliteal pterygium, Toe syndactyly, Finger syndactyly, Underdeveloped nasa... ORPHA:1234
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Dental crowding, Delayed eruption of teeth, Long philtrum, Underdeveloped nasal alae, Anteverted ... OMIM:618825
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee... ORPHA:2228
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Respiratory distress, Abnormality ... ORPHA:438216
Cardioacrofacial Dysplasia 2
Conical tooth, Postaxial foot polydactyly, Atrioventricular canal defect, Genu valgum, Tented upp... OMIM:619143
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N... OMIM:235510
Oculodentodigital Dysplasia
Carious teeth, Clinodactyly, Joint contracture of the 5th finger, Atrial septal defect, High pala... OMIM:164200
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, Split hand, Camptodactyly, High palat... OMIM:246560
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Preaxial foot polydactyly, Split foot, Abnormal palate... ORPHA:1540
Parietal Foramina 1
Wormian bones, Cleft palate, Encephalocele, Cleft upper lip OMIM:168500
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Wide nasal bridge, Clubbing of toes, Tetralogy of Fallot, Micrognathia, Cyanosis, Thin upper lip ... ORPHA:3304
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Respiratory distress, Abnormal heart morphology, Anteverted nares, Apnea,... ORPHA:314655
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Congenital hip dislocation, Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermi... OMIM:619797
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular fossae, Toe syndac... OMIM:201000
Char Syndrome
Depressed nasal ridge, Depressed nasal bridge, Toe syndactyly, Mesoaxial foot polydactyly, Agenes... ORPHA:46627
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Orofaciodigital Syndrome Viii
Bifid nasal tip, Broad nasal tip, Short tibia, Polydactyly, Median cleft upper lip, High palate, ... OMIM:300484
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Fetal Akinesia Deformation Sequence 4
Wide nasal bridge, Retrognathia, 11 pairs of ribs, Micrognathia, Prenatal death, Neonatal death, ... OMIM:618393
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Elbow dislocation, Radial bowing, Micrognathia, Cleft soft p... OMIM:142900
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Wide nasal bridge, Retrognathia, Long philtrum, Cleft upper lip, Anteverte... OMIM:243310
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Prominent nasal bridge, High pa... ORPHA:85279
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, Depressed nasal bridge, Delayed eruption of teeth, Bowing of the legs,... OMIM:613849
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Respiratory distress, Abnormal heart morphology, Elbow flexion contrac... ORPHA:1143
Van Maldergem Syndrome 1
Wide nasal bridge, Hypoplasia of the maxilla, Dental malocclusion, Downturned corners of mouth, A... OMIM:601390
Coffin-Siris Syndrome 3
Depressed nasal bridge, Long philtrum, Umbilical hernia, Abnormal heart morphology, Delayed erupt... OMIM:614608
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microglossia, Microretrognathia, Abnormality of the ankle, Aplasia/Hyp... ORPHA:1307
Smith-Magenis Syndrome
Wide nasal bridge, Depressed nasal bridge, Toe syndactyly, Cleft upper lip, Anteverted nares, Mic... ORPHA:819
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Mandibulofacial Dysostosis With Alopecia
Wide nasal bridge, Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of ... OMIM:616367
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral triphalangeal thumbs, Short distal phalanx of finger, Anteverted nares, Micrognathia, O... OMIM:619356
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Bulbous nose, Thin upper lip vermilion, Smooth philtrum, Widely-spaced... OMIM:618737
Neuralgic Amyotrophy
Bifid uvula, Narrow mouth, Acrocyanosis, Cleft palate, Syndactyly ORPHA:2901
48,Xxyy Syndrome
Broad jaw, Carious teeth, Delayed eruption of teeth, Elbow dislocation, Thick lower lip vermilion... ORPHA:10
Lethal Recessive Chondrodysplasia
Respiratory distress, Micrognathia, Flared elbow metaphyses, Short long bone, Macroglossia ORPHA:1423
Codas Syndrome
Congenital hip dislocation, Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Abnor... ORPHA:1458
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite, Cleft palate OMIM:119540
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Malar flattening, Abnormal digit morphology, Palmoplantar cutis laxa, Spina bifi... OMIM:268850
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Wide nasal bridge, Abnormality of the dentition, Carious teeth, Toe syndactyly, Hypoplasia of the... ORPHA:3253
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Keratoconus Posticus Circumscriptus
Cleft upper lip, Limited elbow extension and supination, Brachydactyly, Clinodactyly of the 5th f... OMIM:244600
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Short philtrum, Man... ORPHA:2325
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morpho... ORPHA:1798
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Encephalocele, Anal atresia, Flat acetabular roof, Cleft lip, Hamartoma... OMIM:616300
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Dislocated radial head, Aganglionic megacolon, Hydrocephalus, Partial agenesis ... OMIM:304100
Pfeiffer Syndrome
Coronal craniosynostosis, Hypoplasia of the maxilla, Choanal atresia, Dental crowding, Depressed ... OMIM:101600
Bohring-Opitz Syndrome
Overlapping toe, Micrognathia, Narrow mouth, Bilateral cleft palate, Ventricular septal defect, A... OMIM:605039
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Irregular acetabular roof, A... ORPHA:93316
Meckel Syndrome, Type 8
Depressed nasal ridge, Occipital encephalocele, Cleft upper lip, Encephalocele, Polydactyly, Shor... OMIM:613885
Congenital Disorder Of Glycosylation, Type Ie
High, narrow palate, Ankle flexion contracture, Depressed nasal bridge, Small hand, Upper limb un... OMIM:608799
Restrictive Dermopathy 2
Hypoplastic facial bones, Microretrognathia, Overtubulated long bones, Respiratory distress, Cyan... OMIM:619793
Thomas Syndrome
Hypoplastic left heart, Cleft palate, Cleft upper lip ORPHA:3316
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Cone-shaped epiphysis, Delayed eruption of teeth, Prominent nasal brid... ORPHA:71267
Waardenburg Syndrome Type 1
Wide nasal bridge, Cleft upper lip, Underdeveloped nasal alae, Premature graying of hair, Tented ... ORPHA:894
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Aganglionic megacolon, Abnormal autonomic nervous system... OMIM:613870
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Micrognathia, Narrow mouth, Everted lower lip vermilion, Cleft palate ORPHA:2016
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Wide nasal bridge, Bifid uvula, Cleft upper lip, Bulbous nose, Anteverted nares, Dysplastic pulmo... OMIM:300958
Intellectual Developmental Disorder, Autosomal Recessive 13
Wide nasal bridge, Slender finger, Downturned corners of mouth, Cleft upper lip, Smooth philtrum,... OMIM:613192
8Q22.1 Microdeletion Syndrome
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Depressed nasal ridge... ORPHA:178303
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Mitral va... OMIM:305620
Aarskog-Scott Syndrome
Wide nasal bridge, Short 5th finger, Hypoplasia of the maxilla, Clinodactyly, Cleft upper lip, Ra... OMIM:305400
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Retinopathy ORPHA:26
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... OMIM:619177
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Open bite, Dental crowding, Hyperplasia of the maxilla OMIM:613671
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... OMIM:610476
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Patellar hypoplasia, Micrognathia, Apnea, Cyanosis, Tachypnea, Dex... ORPHA:2257
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Short distal phalanx of finger, Joint dislocation, Short toe, Abnormal mandi... ORPHA:3201
Aicardi Syndrome
Block vertebrae, Small hand, Cleft upper lip, Intestinal polyposis, Prominence of the premaxilla,... ORPHA:50
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Thin upper lip vermilion, Hyperplasia of the maxilla OMIM:618587
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Slender finger, Downturned corners of mouth, Long philtrum, Anteverted na... ORPHA:163649
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Ventricular septal def... OMIM:300373
Craniometaphyseal Dysplasia, Autosomal Recessive
Wide nasal bridge, Depressed nasal ridge, Flared metaphysis, Facial hyperostosis, Nasal congestio... OMIM:218400
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Wide nasal bridge, Broad nasal tip, Retrognathia, Intestinal malrotation... OMIM:615524
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Cutaneous finger syndactyly, Median cleft upper lip, 2-3 toe syndactyly, Split ha... DECIPHER:46
Spinocerebellar Ataxia, Autosomal Recessive 20
Wide nasal base, Dental crowding, Delayed eruption of teeth, Long philtrum, Clinodactyly, Bulbous... OMIM:616354
Pde4D Haploinsufficiency Syndrome
Micrognathia, Prominent nasal tip, Broad phalanx, Bilateral coxa valga, Short metacarpal, Short n... ORPHA:439822
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Micrognathia, Abnormal morphology of ulna, Abnormal... ORPHA:3104
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Abnormal autonomic nervous syste... ORPHA:101016
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Death in early adulthood, Open mouth, Abnormal mitral valve morphology... ORPHA:192
Oculodentodigital Dysplasia
Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Ventricular septal ... ORPHA:2710
Fibrochondrogenesis 1
Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Broad long bones, Nar... OMIM:228520
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Retrognathia, Camptodactyly of finger, Abnormal... ORPHA:2631
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Micrognathia, Narrow mouth, Radial head subluxation, Patellar dislocation, Short foo... OMIM:614078
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect, Notched primary central incisor, Adducted thumb, Brachydactyly OMIM:620062
Tetrasomy 12P
Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,... ORPHA:884
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Ventriculomegaly, Dilated cardiomyopathy, Camptodactyly of finger, Hydrocephalus, ... ORPHA:272
Mosaic Trisomy 14
Wide nasal bridge, Camptodactyly of finger, Anteverted nares, Micrognathia, Prominent nasal bridg... ORPHA:1703
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy, Wormian bones ORPHA:2773
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal vascular tortuosity, Arrhythmia, Ventricular preexcitation, Retinal telang... ORPHA:104
Down Syndrome
Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Protruding tongue, Ventricular s... OMIM:190685
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long philtrum, Elbow fle... OMIM:214150
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Livedo, Facial telangiectasia, Telangiectasia, Conical incisor, Enamel hypoplasia,... OMIM:614564
Chromosome 6Pter-P24 Deletion Syndrome
Depressed nasal bridge, Dental crowding, Cleft upper lip, Umbilical hernia, Tetralogy of Fallot, ... OMIM:612582
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Mitral valve prolapse, Oligodontia, Microdontia, ... OMIM:601216
Pycnodysostosis
Aplastic clavicle, Carious teeth, Persistent open anterior fontanelle, Persistence of primary tee... OMIM:265800
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno... ORPHA:137888
Eiken Syndrome
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,... OMIM:600002
Coach Syndrome 2
Hypertension, Hydrocephalus, Chorioretinal coloboma, Agenesis of corpus callosum OMIM:619111
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Wide nasal bridge, Respiratory distress, Bulbous nose, Micrognathia, Thin vermilion border, Short... ORPHA:261304
Masa Syndrome
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:303350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cardiomyopathy, Hydrocephalus, Abnormal left ventricular function, Facial palsy, Flexion contract... OMIM:613155
Holoprosencephaly 7
Wide nasal bridge, Hypoplastic nasal septum, Hypoplasia of the premaxilla, Unilateral cleft lip, ... OMIM:610828
3Mc Syndrome 1
Lambdoidal craniosynostosis, Coronal craniosynostosis, Short 5th finger, Cleft lip, Dental crowdi... OMIM:257920
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Dental crowding, Downturned corners of mouth, Sandal gap, Intestinal malrotation, ... OMIM:617602
Orofacial Cleft 14
Median cleft upper lip OMIM:615892
Van Maldergem Syndrome 2
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Cutaneous syndactyly of toe... OMIM:615546
Aicardi Syndrome
Block vertebrae, Cleft upper lip, Anteverted nares, Prominence of the premaxilla, Hiatus hernia, ... OMIM:304050
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar f... OMIM:241310
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Bifid uvula, Depressed nasal bridge, Bulbous nose, Tented upper lip vermilion, Death in infancy, ... OMIM:618622
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Microretrognathia, Short femoral neck, Tooth agenesis, Knee dislocation, Small epi... OMIM:618363
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cleft mandible, Everted lower lip vermilion, Short nose, Pierre-Robin sequence, Abnormality of ca... ORPHA:364577
Orofacial Cleft 13
Retrognathia, Micrognathia, Cleft soft palate, Malar flattening, Oligodontia OMIM:613857
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D... OMIM:311300
Diaphanospondylodysostosis
Respiratory distress, Myelomeningocele, Missing ribs, Narrow pelvis bone, Cleft palate, Abnormal ... ORPHA:66637
Acrocraniofacial Dysostosis
Choanal atresia, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Short distal phala... ORPHA:949
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Bifid uvula, Aortic valve stenosis, Wide nasal bridge, Coarse metaphyseal tr... ORPHA:2780
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Broad columella, Long philtrum, Delayed cranial suture closure, Respiratory di... OMIM:619383
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Retinal dysplasia, Occipital encephalocele, Hydrocephalus ORPHA:324416
Acitretin/Etretinate Embryopathy
Hypoplastic nasal septum, Abnormality of the calcaneus, Atrioventricular canal defect, Anteverted... ORPHA:40366
Larsen-Like Syndrome
Joint dislocation, Dental malocclusion, Radial deviation of the 4th finger, Malar flattening, Abs... OMIM:608545
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip OMIM:600251
Kniest Dysplasia
Delayed epiphyseal ossification, Depressed nasal bridge, Dumbbell-shaped femur, Flared metaphysis... OMIM:156550
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Autosomal Recessive Amelia
Micrognathia, Acromelia of the lower limbs, Orofacial cleft, Abnormal cardiac septum morphology, ... ORPHA:1027
Moebius Syndrome
Bifid uvula, Abnormality of the dentition, Depressed nasal bridge, Abnormal pelvic girdle bone mo... OMIM:157900
Recombinant 8 Syndrome
Abnormality of the dentition, Depressed nasal bridge, Downturned corners of mouth, Cleft upper li... ORPHA:96167
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Cone-shaped epiphyses of the 3rd toe, Hallux valgus, Cone-shaped epiph... ORPHA:397973
Congenital Myopathy 10A, Severe Variant
Respiratory distress, High palate, Cleft palate, Camptodactyly of finger OMIM:614399
Pycnodysostosis
Small hand, Carious teeth, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, ... ORPHA:763
Nance-Horan Syndrome
Diastema, Supernumerary maxillary incisor, Prominent nose, Prominent nasal bridge, Mulberry molar... OMIM:302350
Marbach-Rustad Progeroid Syndrome
Eruption failure, Micrognathia, Narrow mouth, Reduced subcutaneous adipose tissue, Delayed erupti... OMIM:619322
Fried Syndrome
Hydrocephalus, Abnormal optic nerve morphology ORPHA:85335
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Congestive... ORPHA:137675
Van Den Ende-Gupta Syndrome
Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Mi... OMIM:600920
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Cutis marmorata, Radioulnar synostosis, Short nose, Syndactyly, Tet... OMIM:614701
Mandibulofacial Dysostosis, Guion-Almeida Type
Choanal atresia, Slender finger, Preaxial hand polydactyly, Respiratory distress, Anteverted nare... OMIM:610536
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Joint contracture of the hand, Micrognathia, Genu valgum, Mitral valve prolapse, Arach... OMIM:182212
X-Linked Hypohidrotic Ectodermal Dysplasia
Depressed nasal ridge, Short distal phalanx of finger, Everted upper lip vermilion, Delayed erupt... ORPHA:181
Bullous Dystrophy, Hereditary Macular Type
Tapered finger, Acrocyanosis, Death in childhood, Short finger OMIM:302000
Omodysplasia 2
Wide nasal bridge, Bifid nasal tip, Depressed nasal bridge, Broad femoral neck, Short 1st metacar... OMIM:164745
Rubinstein-Taybi Syndrome 1
Broad thumb, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, Narrow mouth, ... OMIM:180849
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Ventricular septal defect, Cervical C2/C3 vertebral fusion, Cleft palate, Fused ... OMIM:214300
Congenital Syphilis
Hyperplasia of the maxilla, Large placenta, Petechiae, Tibial bowing, Synovitis, Rhinitis, Prolon... ORPHA:499009
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Retrognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Ma... ORPHA:2521
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Coronal craniosynostosis, Depressed nasal bridge, Small hand, Dental crowding,... OMIM:145420
Hydrolethalus Syndrome 1
Stillbirth, Preaxial hand polydactyly, Upper limb undergrowth, Midline defect of the nose, Microg... OMIM:236680
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Clinodactyly, Patent foramen ovale, Ve... OMIM:614261
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal, Hypoplasia o... OMIM:170390
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hypoplasia of the maxilla, Broad thumb, Dental crowding, Narrow nose, Narrow nasal bridge, Microg... OMIM:309520
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Toe syndactyly, Overlapping toe, Ventricular septal defect, Atrial septal ... OMIM:601808
Auriculocondylar Syndrome 4
Micrognathia, Apnea, Narrow mouth, Glossoptosis, Cleft palate OMIM:620457
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory oral frenulum... OMIM:277170
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Micrognathia, Open mouth, Irregular dentition, Encephalocele, Anal atresia, High... OMIM:619148
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Mi... OMIM:259600
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Diencephalic Syndrome
Optic atrophy, Long penis, Hydrocephalus ORPHA:1672
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Craniosynostosis 2
Unicoronal synostosis, Cleft soft palate, Bicoronal synostosis, Wormian bones, Triphalangeal thum... OMIM:604757
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Blepharocheilodontic Syndrome 1
Choanal atresia, Conical tooth, Clinodactyly, Cleft upper lip, Hypodontia, Cutaneous syndactyly, ... OMIM:119580
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Depressed nasal bridge, Premature osteoarthritis, Anteverted nares, Malar f... OMIM:184840
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Poor wound healing, Bruising susceptibility, Umbilical hernia, Bowel diverticu... OMIM:130000
Cornelia De Lange Syndrome 5
Depressed nasal bridge, Small hand, Broad nasal tip, Toe syndactyly, Downturned corners of mouth,... OMIM:300882
Juberg-Hayward Syndrome
Anteriorly placed anus, Cleft upper lip, Limited elbow extension, Aplasia/Hypoplasia of the thumb... OMIM:216100
Acrofacial Dysostosis, Palagonia Type
High, narrow palate, Small hand, Unilateral cleft lip, Finger syndactyly, Bulbous nose, Micrognat... ORPHA:1787
Premature Aging Syndrome, Penttinen Type
Thin ribs, Delayed cranial suture closure, Micrognathia, Aplasia of the nasal bone, Flexion contr... OMIM:601812
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wide nasal bridge, Fractured radius, Unilateral cleft lip, Flared metaphysis, Hypertrophic cardio... OMIM:616897
Emanuel Syndrome
Aortic valve stenosis, Tooth malposition, Micrognathia, Ventricular septal defect, Atrial septal ... ORPHA:96170
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Micrognathia, Dilated cardiomyopathy OMIM:300580
Hamel Cerebro-Palato-Cardiac Syndrome
Wide nasal bridge, Bulbous nose, Micrognathia, Narrow mouth, Malar flattening, Death in infancy, ... ORPHA:93946
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft lip, Cutaneous syndactyly of toes, Cleft upper lip, Cutaneous finger syndactyly, Micrognath... OMIM:225060
Nager Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasia of the zygomatic bone, Mi... ORPHA:245
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Abnormality of the dentition, Conical tooth, Small hand, Overlapping fingers, Soli... ORPHA:952
Treacher-Collins Syndrome
Open bite, Micrognathia, Narrow mouth, Encephalocele, High palate, Rectovaginal fistula, Choanal ... ORPHA:861
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Cleft upper lip, Broad ... OMIM:600987
Chromosome 1Q41-Q42 Deletion Syndrome
Depressed nasal bridge, Broad nasal tip, Sandal gap, Cleft upper lip, Widely spaced teeth, Anteve... OMIM:612530
Orofaciodigital Syndrome Type 10
Depressed nasal bridge, Polysyndactyly of hallux, Retrognathia, Long philtrum, Short tibia, Short... ORPHA:2756
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Marshall Syndrome
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Depressed nasal bridg... ORPHA:560
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Broad phalanx, High palate, Short fo... OMIM:166250
Conotruncal Heart Malformations
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... OMIM:217095
Double Outlet Right Ventricle
Hypoplastic left heart, Depressed nasal bridge, Intestinal malrotation, Tetralogy of Fallot, Narr... ORPHA:3426
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Ventriculomegaly, Multiple joint contractures, Abnormal autonomic nervous system p... ORPHA:466934
Zaki Syndrome
Wide nasal bridge, Broad distal phalanx of finger, Toe syndactyly, Ectrodactyly, Median pseudocle... OMIM:619648
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
X-Linked Intellectual Disability Due To Gria3 Mutations
Genu recurvatum, Macrodontia of permanent maxillary central incisor, Thick vermilion border, Open... ORPHA:364028
Pallister-Hall Syndrome
Toe syndactyly, Natal tooth, Postaxial foot polydactyly, Ventricular septal defect, Neonatal deat... OMIM:146510
Agnathia-Otocephaly Complex
Microglossia, Secundum atrial septal defect, Respiratory distress, Aglossia, Micrognathia, Narrow... OMIM:202650
Nabais Sa-De Vries Syndrome, Type 2
Hypoplastic left heart, Depressed nasal bridge, Bulbous nose, Prominent nose, Micrognathia, Antev... OMIM:618829
1Q21.1 Microduplication Syndrome
Arthrogryposis multiplex congenita, Cryptorchidism, Hydrocephalus, Hypospadias, Hip dislocation ORPHA:250994
Three M Syndrome 2
Thin ribs, Depressed nasal bridge, Short 5th finger, Dental malocclusion, Delayed eruption of tee... OMIM:612921
Atelosteogenesis, Type Ii
Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap... OMIM:256050
Hemifacial Microsomia With Radial Defects
Orofacial cleft, Triphalangeal thumb, Short mandibular rami, Non-midline cleft of the upper lip, ... OMIM:141400
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Broad thumb, Secundum atrial septal defect, Clinodactyly, Hyperplasia of the maxilla, Long hallux... OMIM:620194
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Pear-shap... OMIM:190350
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Hall-Riggs Syndrome
Wide nasal bridge, Abnormal epiphysis morphology, Delayed eruption of teeth, Downturned corners o... ORPHA:2107
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Inguinal hernia, Bradycardia, Joint contracture, Abnormal autonomic nervous system... OMIM:614498
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Hypoplastic scapulae, Finger syndactyly, Micrognathia, Single ventricle, 2-5 finger syn... OMIM:308050
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:600348
3C Syndrome
Aortic valve stenosis, Finger syndactyly, Micrognathia, Abnormal mitral valve morphology, Ventric... ORPHA:7
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hip dislocation, Macroglossia, Wormian bones, Delayed eruption of teeth OMIM:614450
Ellis Van Creveld Syndrome
Synostosis of carpal bones, Genu valgum, Ventricular septal defect, Atrial septal defect, Dextroc... ORPHA:289
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
X-Linked Intellectual Disability, Abidi Type
Prominent nasal bridge, Non-midline cleft of the upper lip, Cleft palate ORPHA:85273
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, High palate, Prominent nasal bridge, Mandibular prognathia OMIM:300676
Distal Monosomy 7Q36
Bulbous nose, Micrognathia, Symphalangism affecting the phalanges of the hand, Clinodactyly of th... ORPHA:1636
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Retinal coloboma, Hypogonadism, Cryptorchidism, Hydrocephalus, Rod-cone dystrophy OMIM:601794
Tarp Syndrome
Finger syndactyly, Clinodactyly, Micrognathia, Atrial septal defect, Pierre-Robin sequence, Tetra... ORPHA:2886
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum OMIM:619302
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Lateral ventricle dilatation, Bicoronal synostosis, Agenesis of corp... OMIM:618736
Coffin-Siris Syndrome 11
Bifid uvula, Depressed nasal bridge, Small hand, Downturned corners of mouth, Bulbous nose, Cleft... OMIM:618779
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous syste... ORPHA:369873
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Bilateral cleft palate... OMIM:601357
Kleeblattschaedel
Craniosynostosis, Elbow ankylosis, Hydrocephalus OMIM:148800
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Preaxial hand polydactyly, Micrognathia, Malar flattening, Atrial sept... ORPHA:79113
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Bulbous nose, Short philtrum, Mandibular prognathia ORPHA:93945
Hartsfield Syndrome
Depressed nasal bridge, Aplasia/Hypoplasia of the radius, Encephalocele, Split hand, Craniosynost... ORPHA:2117
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short lingual f... OMIM:180700
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Lissencephaly Syndrome, Norman-Roberts Type
Wide nasal bridge, Microretrognathia, Respiratory distress, Patent foramen ovale, Atrial septal d... ORPHA:89844
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Genu valgum, Patellar subluxation, Hydrocephalus OMIM:248000
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Aminopterin/Methotrexate Embryofetopathy
Wide nasal bridge, Spinal dysraphism, Finger syndactyly, Tetralogy of Fallot, Micrognathia, Situs... ORPHA:1908
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Tessier cleft, Choanal atresia, Depressed nasal ridge, Broad proximal phalan... OMIM:607597
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Ventricular septal defect, Everte... OMIM:608670
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Small scrotum, Cryptorchidism, Arrhythmia, Ambiguous genitalia, Abnormal autonomic nervous system... ORPHA:168593
Frontofacionasal Dysplasia
Bifid uvula, Hypoplasia of the frontal bone, Cranium bifidum occultum, Cleft upper lip, Underdeve... OMIM:229400
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... OMIM:268310
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip OMIM:120433
W Syndrome
Depressed nasal bridge, Upper lip pit, Broad nasal tip, Broad uvula, Elbow dislocation, Radial bo... ORPHA:2804
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormality of carpal bone ossification, Hypoplasia of the maxilla, Progeroid facial appearance, ... OMIM:608154
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Occipital encephalocele, Hydrocephalus ORPHA:352682
Developmental And Speech Delay Due To Sox5 Deficiency
Dental crowding, Exaggerated median tongue furrow, Hyperplasia of the maxilla, 2-3 toe syndactyly... ORPHA:313892
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Wide nasal bridge, Conical tooth, Cleft lip, Hypoplasia of the maxilla, Bilateral choanal atresia... OMIM:106260
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Micrognathia, Cleft palate, Cleft upper lip, Abnormal rib morphology OMIM:601076
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors, Stillbirth OMIM:183300
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Ankle swelling, Carpal osteolysis, Wrist swelling, Metacarpal osteolys... OMIM:166300
Orofaciodigital Syndrome Xviii
Wide nasal bridge, Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Preaxial poly... OMIM:617927
Acrocardiofacial Syndrome
Wide nasal bridge, Toe syndactyly, Joint dislocation, Finger syndactyly, Cleft upper lip, Camptod... ORPHA:2008
Hypoglossia With Situs Inversus
Microglossia, Respiratory distress, Micrognathia, Narrow mouth, Situs inversus totalis, Hypodonti... OMIM:612776
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Telangiectasia of the skin, Narrow ... ORPHA:3019
Anencephaly 2
Median cleft palate, Median cleft upper lip, Bifid nose, Cleft maxillary alveolar ridge, Anencephaly OMIM:619452
Momo Syndrome
Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip... OMIM:157980
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, High iliac wing, Delayed eruption of teeth, Long philtr... ORPHA:50814
Zechi-Ceide Syndrome
Wide nasal bridge, Short distal phalanx of finger, Cleft lip, Downturned corners of mouth, Sandal... ORPHA:217017
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Congenital Heart Defects And Ectodermal Dysplasia
2-3 toe cutaneous syndactyly, Depressed nasal bridge, Broad thumb, Widely spaced teeth, Atriovent... OMIM:617364
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hypoplastic female external genitalia, Unilambdoid synostosis, Cryptorchidism, ... OMIM:618577
Loeys-Dietz Syndrome 5
Cleft soft palate, Reduced subcutaneous adipose tissue, Ventricular septal defect, Arachnodactyly... OMIM:615582
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Cornelia De Lange Syndrome 1
Cutis marmorata, Micrognathia, Ventricular septal defect, Dislocated radial head, High palate, Hi... OMIM:122470
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:610743
Split Lower Lip
Abnormality of the dentition, Narrow maxilla, Abnormal lower lip morphology, Lower lip pit OMIM:183400
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Malar flattening, Abnormal palate morphology, Abnorma... ORPHA:93262
Oculocerebrofacial Syndrome, Kaufman Type
High, narrow palate, Retrognathia, Abnormal lip morphology, Respiratory distress, Abnormal upper ... ORPHA:2707
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Tooth agenesis, Abnormality of the wrist, Micrognathia, Abnormal femur morphology, Abnormal palat... ORPHA:2063
Multiple System Atrophy
Orthostatic syncope, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf... ORPHA:102
Trisomy 8Q
Wide nasal bridge, Camptodactyly of finger, Myelomeningocele, Micrognathia, Abnormal oral frenulu... ORPHA:1752
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Depressed nasal ridge, Delayed eruption of teeth ORPHA:1816
3M Syndrome
Thin ribs, Congenital hip dislocation, Rocker bottom foot, Delayed eruption of teeth, Long philtr... ORPHA:2616
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Wide nasal bridge, Choanal atresia, Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Re... ORPHA:2759
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Agenesis of corpus callosum, Retinal detachment, Hydrocephalus, Dandy-Walker ma... OMIM:613153
Melnick-Needles Syndrome
Tooth malposition, Craniofacial hyperostosis, Short distal phalanx of finger, Delayed eruption of... ORPHA:2484
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Agenesis of corpus callosum OMIM:619301
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Velopharyngeal insufficiency, Clinodactyly, Overlapping toe, Micrognathia, Ventri... OMIM:154400
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Ventriculomegaly, Flexion contracture, Abnormal autonomic nervous system physiology OMIM:616683
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpo... OMIM:616034
Fetal Alcohol Syndrome
Anteverted nares, Micrognathia, Microdontia, Thin upper lip vermilion, Smooth philtrum, Atrial se... ORPHA:1915
Campomelic Dysplasia
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Shortening of al... OMIM:114290
Alfadhel Syndrome
Retrognathia, Bulbous nose, Smooth philtrum, Thin vermilion border, Short philtrum, Nasal flaring OMIM:620655
Cleft Velum
Hypoplasia of the maxilla, Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Short Stature, Dauber-Argente Type
Delayed eruption of teeth, Decreased fibular diameter, Arachnodactyly, Long toe, Long fingers OMIM:619489
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia, Brachydactyly, Short metatarsal, Short metacarpal OMIM:613382
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Cranium bifidum occultum, Hypoplasia of the frontal bone, Hypoplasia of the maxill... ORPHA:306542
Cleft Lip-Retinopathy Syndrome
Non-midline cleft of the upper lip ORPHA:1995
Orofaciodigital Syndrome I
Carious teeth, Clinodactyly, Ankyloglossia, High palate, Syndactyly, Hamartoma of tongue, Myelome... OMIM:311200
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Agenesis of corpus callosum, Hydrocephalus, Cr... ORPHA:380
Short Stature And Facioauriculothoracic Malformations
Cleft upper lip, Cervical ribs, Ventricular septal defect, High palate, Cleft palate OMIM:609654
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Malar flattening, Split hand, Cleft palate, Split foot OMIM:183700
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Micrognathia, Malar flattening, Abnormal metacarpal morphology, Osteoarthritis, Gl... ORPHA:166100
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Micrognathia, Cleft soft palate, Smooth philtrum, Esophageal atresia, Atrial septal ... OMIM:614526
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Intercostal retractions, Abno... ORPHA:1329
Crisponi/Cold-Induced Sweating Syndrome 1
Depressed nasal bridge, Carious teeth, Retrognathia, Long philtrum, Radial deviation of finger, E... OMIM:272430
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Retrognathia, Broad columella, Thick nasal alae, Bulbous nose, Depressed nasal tip, Cleft soft pa... ORPHA:293725
Cerebrocostomandibular Syndrome
Carious teeth, Cleft soft palate, Micrognathia, Ventricular septal defect, Short hard palate, Atr... OMIM:117650
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Bifid nasal tip, Broad nasal tip, Secundum atrial septal defect, Retrognathia, Umbilical hernia, ... OMIM:619758
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Mucopolysaccharidosis, Type Ix
Bifid uvula, Depressed nasal bridge, Chondrocalcinosis, Popliteal synovial cyst, Periarticular so... OMIM:601492
Multiple Pterygium-Malignant Hyperthermia Syndrome
Ulnar deviation of finger, Downturned corners of mouth, Long philtrum, Abnormal mandible morpholo... ORPHA:2215
Kyphomelic Dysplasia
Depressed nasal bridge, Radial bowing, Cleft upper lip, Flared metaphysis, Pterygium, Dumbbell-sh... OMIM:211350
Pai Syndrome
Bifid uvula, Depressed nasal bridge, Nasal polyposis, Midline defect of the nose, Encephalocele, ... ORPHA:1993
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Catel-Manzke Syndrome
Narrow naris, Ulnar deviation of the 2nd finger, Micrognathia, Narrow mouth, Genu valgum, Ventric... OMIM:616145
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Downturned corners of mouth, Malar flattening, Ventricular septal defect, Ectopic anus, Aplasia/H... ORPHA:94066
Distal Xq28 Microduplication Syndrome
Epistaxis, Hypoplasia of the maxilla, Broad nasal tip, Dental crowding, Recurrent upper respirato... ORPHA:293939
Potocki-Shaffer syndrome
Abnormality of the male genitalia, Delayed cranial suture closure DECIPHER:34
Stickler Syndrome, Type Ii
High, narrow palate, Bifid uvula, Depressed nasal bridge, Anteverted nares, Micrognathia, Malar f... OMIM:604841
Multiple System Atrophy, Parkinsonian Type
Orthostatic syncope, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf... ORPHA:98933
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Depressed nasal bridge, Short distal phalanx of finger, Delayed eruption of teeth, Underdeveloped... OMIM:615866
Blepharonasofacial Malformation Syndrome
Wide nasal bridge, Finger syndactyly, Long philtrum, Tooth agenesis, Underdeveloped nasal alae, N... ORPHA:1252
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Conical tooth, Choanal atresia, Short thumb, Cleft upper lip, Microgn... OMIM:263750
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Auton... ORPHA:330001
Oculoauriculofrontonasal Syndrome
Bifid nasal tip, Cleft lip, Underdeveloped nasal alae, Micrognathia, Narrow mouth, Encephalocele,... ORPHA:398156
Orofaciodigital Syndrome Ix
Abnormality of the dentition, Bifid nasal tip, Broad nasal tip, Toe syndactyly, Short tibia, Medi... OMIM:258865
Elsahy-Waters Syndrome
Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, Wide nose, Hypo... OMIM:211380
Acrofacial Dysostosis, Catania Type
Carious teeth, Prominent nose, Micrognathia, Malar flattening, Brachydactyly, Short palm, Spina b... OMIM:101805
Cohen Syndrome
Finger syndactyly, Micrognathia, Open mouth, Genu valgum, Mitral valve prolapse, Ventricular sept... ORPHA:193
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Natal tooth, Dental malocclusion, Short 1st metacarpal, Short fir... OMIM:601957
Coffin-Siris Syndrome 6
High, narrow palate, Depressed nasal bridge, Broad nasal tip, Retrognathia, Clinodactyly, Microgn... OMIM:617808
Vitamin D-Dependent Rickets, Type 2A
Wide nasal bridge, Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth,... OMIM:277440
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Abnormality of retinal pigmentation ORPHA:397951
Cranioectodermal Dysplasia
Abnormality of the dentition, Short distal phalanx of finger, Finger syndactyly, Abnormal diaphys... ORPHA:1515
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Depressed nasal bridge, Natal tooth, Micrognathia, Death in childhood, Death in infancy, Ventricu... OMIM:616901
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Cleft upper lip, Camptodactyly of finger, Anteverted nares, Metatarsus va... ORPHA:261236
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Basal Cell Nevus Syndrome 1
Wide nasal bridge, Short distal phalanx of the thumb, Cleft upper lip, Cardiac rhabdomyoma, Cardi... OMIM:109400
49,Xxxxy Syndrome
Depressed nasal ridge, Depressed nasal bridge, Carious teeth, Abnormal epiphysis morphology, Dela... ORPHA:96264
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Pigmentary retinopathy, Dilated third ventricle, Ventriculomegaly, Lateral ventric... OMIM:613154
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Kabuki Syndrome 2
Short 5th finger, Broad nasal tip, Dental malocclusion, Natal tooth, Prominent fingertip pads, At... OMIM:300867
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Knee flexion contracture, Cyanot... ORPHA:284417
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Micrognathia, Abnormal femur morpholog... ORPHA:3429
Radio-Renal Syndrome
High, narrow palate, Depressed nasal bridge, Downturned corners of mouth, Retrognathia, Respirato... ORPHA:3015
Genitopatellar Syndrome
Hypoplastic ilia, Delayed eruption of teeth, Long philtrum, Prominent nose, Micrognathia, Apnea, ... ORPHA:85201
Axenfeld-Rieger Syndrome, Type 2
Wide nasal bridge, Anal stenosis, Hypoplasia of the maxilla, Umbilical hernia, Abnormal heart mor... OMIM:601499
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Martsolf Syndrome 1
Tooth malposition, Micrognathia, Broad fingertip, Finger joint hypermobility, High palate, Short ... OMIM:212720
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the costochondral junction, Ventricular septal defect, Stippling of the epiphyses ... ORPHA:79345
Cutis Laxa, Autosomal Recessive, Type Ib
Depressed nasal bridge, Retrognathia, Bulbous nose, Micrognathia, Death in childhood, Prominence ... OMIM:614437
Verheij Syndrome
Wide nasal bridge, Short 5th finger, Broad nasal tip, Branchial cyst, Long philtrum, Retrognathia... OMIM:615583
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Abnormal joint morphology, Micrognathia, Peri... ORPHA:2753
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Abnormality of venous physiology, Ab... ORPHA:90064
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Aredyld Syndrome
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal dental enamel morphol... ORPHA:1133
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Hao-Fountain Syndrome
Micropenis, Large fontanelles, Cryptorchidism, Delayed cranial suture closure OMIM:616863
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Rhizomelic Chondrodysplasia Punctata, Type 2
Wide nasal bridge, Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Tetralogy of F... OMIM:222765
Pseudopseudohypoparathyroidism
Depressed nasal bridge, Delayed eruption of teeth, Enamel hypoplasia, Brachydactyly, Short metata... OMIM:612463
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Multiple suture craniosynostosis, Convex nasal ridge,... ORPHA:207
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Long philtrum, Abnormal heart morphology, Submucous cleft hard palate... ORPHA:457279
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Beare-Stevenson Cutis Gyrata Syndrome
Bifid uvula, Narrow palate, Choanal atresia, Natal tooth, Depressed nasal bridge, Anteriorly plac... OMIM:123790
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Acrofrontofacionasal Dysostosis 1
Wide nasal bridge, Short distal phalanx of finger, Broad thumb, Cleft upper lip, Wide mouth, Mala... OMIM:201180
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Joint contracture of the hand, Delayed cranial suture closure, Umbilical hernia... OMIM:175700
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Hypoplasia of the maxilla, 2-3 toe syndactyly, Long fingers, High palate, Shor... OMIM:218000
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla, Broad thumb, Broad hallux, Long philtrum, Bulbous nose, Anteverted nar... ORPHA:481152
Intellectual Developmental Disorder, Autosomal Recessive 68
Wide nasal bridge, Hypoplasia of the maxilla OMIM:618302
Osteoglosphonic Dysplasia
Choanal atresia, Tooth agenesis, Anteverted nares, Micrognathia, Multiple unerupted teeth, Brachy... ORPHA:2645
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Fryns Syndrome
Wide nasal bridge, Short distal phalanx of finger, Long philtrum, Duodenal atresia, Intestinal ma... ORPHA:2059
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Overlapping toe, Micrognathia, Atrial septal defect, Microdontia of primary teeth, High palate, S... OMIM:213980
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Anosmia, Clinodactyly, Cleft upper lip, Tooth agenesis, Hyposmia, Ectrodactyly, ... OMIM:147950
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Wormian bones ORPHA:2787
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Depressed nasal bridge, Cone-shaped epiphysis, Respiratory distress, Atrioventricular canal defec... OMIM:617088
Variegate Porphyria
Tachycardia OMIM:176200
Oculoauriculovertebral Spectrum With Radial Defects
Preaxial hand polydactyly, Atrioventricular canal defect, Aplasia/Hypoplasia of the thumb, Orofac... ORPHA:2549
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Neurofaciodigitorenal Syndrome
Abnormal oral mucosa morphology, Hypoplasia of the premaxilla, Abnormal distal phalanx morphology... ORPHA:2673
Diprosopus
Abnormality of the nose, Abnormal cardiac septum morphology, Anencephaly, Non-midline cleft of th... ORPHA:1681
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy... ORPHA:3352
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... OMIM:613838
Koolen-De Vries Syndrome
Open mouth, Pear-shaped nose, Ventricular septal defect, Bicuspid aortic valve, Everted lower lip... OMIM:610443
Posttransplant Acute Limbic Encephalitis
Increased CSF protein concentration, CSF lymphocytic pleiocytosis, CSF polymorphonuclear pleocyto... ORPHA:163921
Momo Syndrome
Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip v... ORPHA:2563
Sweeney-Cox Syndrome
Velopharyngeal insufficiency, Micrognathia, Narrow mouth, 2-5 finger cutaneous syndactyly, Anal a... OMIM:617746
Stickler Syndrome, Type I
Abnormal femoral epiphysis morphology, Bifid uvula, Depressed nasal bridge, Anteverted nares, Mic... OMIM:108300
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car... ORPHA:3238
Prader-Willi Syndrome Due To Translocation
Small hand, Carious teeth, Clinodactyly, Overlapping toe, Micrognathia, Everted lower lip vermili... ORPHA:177907
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Wide nasal bridge, Retrognathia, Long philtrum, Abnormal heart morphology, T... ORPHA:96092
48,Xxxy Syndrome
Depressed nasal ridge, Carious teeth, Abnormal epiphysis morphology, Delayed eruption of teeth, E... ORPHA:96263
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, Respiratory distress, Micrognathia, Thin upper lip vermilion, Deep philtrum,... ORPHA:329178
Trisomy 13
High, narrow palate, Abnormality of the dentition, Abnormal pelvic girdle bone morphology, Long p... ORPHA:3378
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Stickler Syndrome
Open bite, Micrognathia, Genu valgum, Mitral valve prolapse, Arachnodactyly, Short hard palate, H... ORPHA:828
Orofaciodigital Syndrome Type 1
Finger syndactyly, Open bite, Micrognathia, Foot polydactyly, Tarsal synostosis, High palate, Acc... ORPHA:2750
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation OMIM:264270
Nablus Mask-Like Facial Syndrome
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Joint contracture of ... OMIM:608156
Gapo Syndrome
High, narrow palate, Depressed nasal bridge, Eruption failure, Long philtrum, Thick lower lip ver... OMIM:230740
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly, Abnormality of retinal pigmentation ORPHA:858
Mitchell Syndrome
Abnormal autonomic nervous system physiology OMIM:618960
Intellectual Developmental Disorder, Autosomal Dominant 70
Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Retrognathia, Micrognathia, Malar ... OMIM:620157
Brachycephaly, Trichomegaly, And Developmental Delay
Bifid uvula, Depressed nasal bridge, Prominent fingertip pads, Thick lower lip vermilion, Open mo... OMIM:617412
Autosomal Dominant Popliteal Pterygium Syndrome
Choanal atresia, Popliteal pterygium, Lip pit, Fibrous syngnathia, Toe syndactyly, Finger syndact... ORPHA:1300
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Otopalatodigital Syndrome Type 1
Wide nasal bridge, Depressed nasal bridge, Short distal phalanx of finger, Synostosis of carpal b... ORPHA:90650
Multiple System Atrophy, Cerebellar Type
Orthostatic syncope, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysf... ORPHA:227510
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, Retrognathia, Respiratory distress, Death in infancy, Neonatal death, High palate OMIM:300219
Bent Bone Dysplasia Syndrome 1
Coronal craniosynostosis, Natal tooth, Micrognathia, Gingival overgrowth, Malar flattening, Short... OMIM:614592
Tetanus
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Bradycardia, Tachyca... ORPHA:3299
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Choanal atresia, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Anteriorly placed anus... ORPHA:1555
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Apert Syndrome
Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal b... OMIM:101200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Flexion contracture, Hydrocephalus, Increased laxity of ankles ORPHA:99947
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Depressed nasal ridge, Hip dislocation, Tooth agenesis, Bilateral cleft palate, Meningocele, Abse... ORPHA:2003
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Wide nasal bridge, Bifid uvula, Abnormality of the dentition, Choanal atresia, Depressed nasal br... OMIM:300968
Intellectual Developmental Disorder, Autosomal Dominant 73
Ankyloglossia, Cleft soft palate, Everted lower lip vermilion, Long nose, High palate, U-Shaped u... OMIM:620450
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Kagami-Ogata Syndrome
Thin ribs, Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Anteve... OMIM:608149
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... OMIM:613751
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Optic atrophy, Hydrocephalus OMIM:618174
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Depressed nasal bridge, Cleft lip, Dilated cardiomyopathy, Myofiber disarray, Patent foramen oval... OMIM:620519
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Familial Osteodysplasia, Anderson Type
Tooth malposition, Depressed nasal ridge, Carious teeth, Failure of eruption of permanent teeth, ... ORPHA:2769
Axenfeld-Rieger Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Anal stenosis, Microdontia,... ORPHA:782
Lissencephaly 5
Optic atrophy, Occipital encephalocele, Hydrocephalus OMIM:615191
Doors Syndrome
Wide nasal base, Short lingual frenulum, Open mouth, Aplasia/Hypoplasia of the phalanges of the 2... ORPHA:79500
Acrootoocular Syndrome
High, narrow palate, Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Short toe, ... ORPHA:2980
Postaxial Acrofacial Dysostosis
Finger syndactyly, Camptodactyly of finger, Micrognathia, Malar flattening, Hypoplasia of the rad... ORPHA:246
Andersen-Tawil Syndrome
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Dilated cardiomyopath... ORPHA:37553
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Apert Syndrome
Bifid uvula, Hypoplasia of the maxilla, Choanal atresia, Depressed nasal bridge, Delayed eruption... ORPHA:87
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Ectopic anus... ORPHA:2476
Immunodeficiency 33
Hypodontia, Conical tooth, Delayed eruption of teeth OMIM:300636
Nephronophthisis 18
Retinitis, Hypertension, Hydrocephalus OMIM:615862
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Ventriculomegaly, Occipital encephalocele, Cardiomyopathy, Dilated fourth ventricl... ORPHA:370959
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Elbow dislocation, Long philtrum, Clinodactyly, Slender long bone, Hyp... OMIM:613805
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short distal phalanx of finger, Hypoplasia of the maxilla, Recurrent upper respiratory tract infe... OMIM:300534
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Abnormal rib morphology, Micrognathia, Malar flattening, Brachydactyly, Convex... ORPHA:2145
Hartsfield Syndrome
Hypoplasia of the frontal bone, Cleft upper lip, Ectrodactyly, Median cleft upper lip, Syndactyly... OMIM:615465
Dysosteosclerosis
Short diaphyses, Natal tooth, Delayed eruption of teeth, Absent paranasal sinuses, Broad femoral ... OMIM:224300
Kapur-Toriello Syndrome
Joint contracture of the hand, Short thumb, Cleft upper lip, Camptodactyly of finger, Intestinal ... OMIM:244300
Sotos Syndrome
High, narrow palate, Depressed nasal bridge, Long metacarpals, Broad nasal tip, Enlarged naris, M... OMIM:117550
Heart And Brain Malformation Syndrome
High, narrow palate, Wide nasal bridge, Depressed nasal bridge, Cleft lip, Thick lower lip vermil... OMIM:616920
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp... OMIM:613854
Right Atrial Isomerism
Total anomalous pulmonary venous return, Tetralogy of Fallot, Situs inversus totalis, Complete at... OMIM:208530
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Prominent nasal bridge, Tented upper lip vermilion, Polydactyly,... ORPHA:313781
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Long philtrum, Irregular epiphyses, Small epiphyses, Genu valgum, Cubi... ORPHA:263463
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Arthrogryposis And Ectodermal Dysplasia
Joint contracture of the hand, Cleft upper lip, Abnormal dental enamel morphology, Oligodontia, O... OMIM:601701
Distal Deletion 12Q
Overlapping toe, Micrognathia, Duodenal atresia, High, narrow palate, Congenital hypertrophy of l... ORPHA:96149
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Umbilical hernia, Intestinal malrotation, Micrognathia, Narrow mout... ORPHA:2166
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Deformed humerus, Micrognathia, Mandibular condyle hypoplasia, Disl... ORPHA:2975
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Myhre Syndrome
Bifid uvula, Gingival cleft, Hypoplasia of the maxilla, Craniofacial hyperostosis, Unilateral cle... ORPHA:2588
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long philtrum, Abnormal ... ORPHA:1988
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Retinal degeneration, Bradycardia OMIM:617173
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Dental malocclusion, Slender long bone, Proxi... OMIM:616202
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Wide nasal bridge, Conical tooth, Delayed eruption of teeth, Finger syndactyly, Widely spaced tee... ORPHA:1071
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Respiratory distress, Elb... ORPHA:1145
Endocrine-Cerebroosteodysplasia
Wide nasal bridge, Natal tooth, Sandal gap, Preaxial polydactyly, Thick upper lip vermilion, Depr... OMIM:612651
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis, Lip discoloration ORPHA:621
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Anal atresia, Mandibular prognathia ORPHA:93950
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Pfeiffer Syndrome Type 2
Deviation of the thumb, Choanal atresia, Depressed nasal bridge, Small hand, Toe syndactyly, Fing... ORPHA:93259
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Everted upper lip vermilion, Retrognathia, Respiratory distress, Antevert... OMIM:608013
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Ventricular septal defect, Neonatal death, Short foot, Short t... OMIM:269860
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Trisomy 9P
Dental crowding, Downturned corners of mouth, Impacted tooth, Abnormal nasal morphology, Brachyda... ORPHA:236
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Camptodactyly of finger, Narrow nasal bridge, Cutaneous finger syndac... ORPHA:896
Ear-Patella-Short Stature Syndrome
Elbow dislocation, Micrognathia, Narrow mouth, Patellar aplasia, High, narrow palate, Hypoplasia ... ORPHA:2554
Arthrogryposis, Distal, Type 3
Bifid uvula, Congenital hip dislocation, Camptodactyly of finger, Overlapping toe, Micrognathia, ... OMIM:114300
Saethre-Chotzen Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Broad thumb, Finger syndactyly, Delayed crania... ORPHA:794
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Hypertensive retinopathy, Episodic hyp... OMIM:171420
Pseudoleprechaunism Syndrome, Patterson Type
Hyperplasia of the maxilla, Prominent nose, Genu valgum, Delayed pubic bone ossification, Joint s... ORPHA:2976
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Small hand, Prominent fingertip pads, Long philtrum, Anteriorly placed anus,... OMIM:612863
Robinow Syndrome
Flared nostrils, Tooth malposition, Ankyloglossia, Marked delay in eruption of permanent teeth, M... ORPHA:97360
Dubowitz Syndrome
Small hand, Toe syndactyly, Broad thumb, Delayed cranial suture closure, Cutis marmorata, Microgn... ORPHA:235
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Bifid nasal tip, Broad nasal tip, Patellar hypoplasia, Thick nas... ORPHA:1827
Frontorhiny
Cranium bifidum occultum, Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger... ORPHA:391474
Meier-Gorlin Syndrome 1
Thin ribs, Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndact... OMIM:224690
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Ectopic tooth eruption, Umbilical hernia OMIM:606893
Craniosynostosis 6
Lateral ventricle dilatation, Right unilambdoid synostosis, Delayed cranial suture closure, Bicor... OMIM:616602
Schilbach-Rott Syndrome
2-3 toe cutaneous syndactyly, Bifid uvula, Clinodactyly, Prominent nose, Micrognathia, Narrow mou... OMIM:164220
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Long philtrum, Thin upper lip vermilion OMIM:614741
Holoprosencephaly 2
Bifid uvula, Proboscis, Median cleft palate, Malar flattening, Submucous cleft hard palate, Bilat... OMIM:157170
Phosphoserine Aminotransferase Deficiency
Death in infancy, Apnea, Cyanotic episode OMIM:610992
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Umbilical hernia OMIM:254120
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Depressed nasal bridge, Hypoplastic ilia, Long philtrum, Respiratory distress, Horizontal ribs, V... OMIM:617895
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Retrognathia, Micrognathia, Submucous cleft ha... ORPHA:2189
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Fryns Syndrome
Thin ribs, Joint contracture of the hand, Ventricular septal defect, Atrial septal defect, Anal a... OMIM:229850
3P25.3 Microdeletion Syndrome
Broad thumb, Overlapping toe, Micrognathia, Ventricular septal defect, 2-3 finger syndactyly, Atr... ORPHA:435638
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Long philtrum, Thick lower lip vermilion, Prominent nose, Joint contracture of the 5th finger, Lo... OMIM:614407
Braddock-Carey Syndrome 1
Wide nasal bridge, Small hand, Clinodactyly, Anteriorly placed anus, Anteverted nares, Ventricula... OMIM:619980
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Apnea, Narrow mouth, Micrognath... OMIM:602483
Emanuel Syndrome
Broad jaw, Aortic valve stenosis, Congenital hip dislocation, Dental crowding, Long philtrum, Int... OMIM:609029
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Anteverted nares, Thick vermilion bo... ORPHA:228396
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Wide nasal bridge, Conical tooth, Dental malocclusion, Clinodactyly, Sandal gap, Broad hallux, Th... OMIM:618727
Cornelia De Lange Syndrome 6
Macrodontia of permanent maxillary central incisor, Cleft lip, Short 1st metacarpal, Long philtru... OMIM:620568
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Bowing of the long bones, Death in adolescence, Short long ... OMIM:619751
Wrinkly Skin Syndrome
Carious teeth, Delayed cranial suture closure, High palate, Atrial septal dilatation, Wide nasal ... OMIM:278250
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Acrofrontofacionasal Dysostosis
Short distal phalanx of finger, Broad nasal tip, Broad thumb, Abnormal epiphysis morphology, Camp... ORPHA:1784
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Micrognathia, Open mouth, ... OMIM:614744
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Anal atresia, Cone-shaped epiphysis, Hamartoma of tongue, Femoral bowing, Horizontal ribs, Fibula... OMIM:613091
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Ventriculomegaly, Chorioretinal coloboma, Agenesis of corpus callosum, Macular hyp... OMIM:615219
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Seckel Syndrome 5
Retrognathia, Selective tooth agenesis, 11 pairs of ribs, Micrognathia, Prominent nasal bridge, O... OMIM:613823
Congenital Myopathy 22B, Severe Fetal
Wide nasal bridge, Thin ribs, Tapered toe, Dental crowding, Retrognathia, Slender long bone, Shou... OMIM:620369
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Neuronal Intestinal Pseudoobstruction
Natal tooth, Abnormal cardiac septum morphology ORPHA:99811
Genitopalatocardiac Syndrome
Wide nasal bridge, Downturned corners of mouth, Micrognathia, Brachydactyly, Abnormal cardiac sep... ORPHA:2075
Johanson-Blizzard Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Anteriorly placed anus, Underdeveloped n... ORPHA:2315
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Optic Pathway Glioma
Precocious puberty, Optic atrophy, Papilledema, Hydrocephalus ORPHA:2086
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Cerebellar-Facial-Dental Syndrome
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Slend... ORPHA:444072
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Diaphanospondylodysostosis
Depressed nasal ridge, Depressed nasal bridge, Respiratory distress, Micrognathia, Absent in uter... OMIM:608022
Ctcf-Related Neurodevelopmental Disorder
Narrow mouth, Joint contracture of the 5th finger, Atrial septal defect, Short nose, Broad nasal ... ORPHA:363611
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Delayed eruption of teeth, Bulgin... OMIM:264700
Anophthalmia Plus Syndrome
Tessier cleft, Choanal atresia, Deviation of finger, Bilateral cleft palate, Abnormal nasal morph... ORPHA:1104
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Genu valgum, Cubitus valgus, Abnormal autonomic nervous system phys... ORPHA:300570
Alexander Disease
Precocious puberty, Hypotension, Agenesis of corpus callosum, Sudden cardiac death, Abnormal auto... ORPHA:58
Joubert Syndrome 18
Occipital encephalocele, Retrognathia, Trident pelvis, Ventricular septal defect, Bowing of the l... OMIM:614815
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Wide nasal bridge, Bifid uvula, Depressed nasal bridge, Postaxial foot polydactyly, Broad distal ... ORPHA:404440
Neu-Laxova Syndrome 1
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Ven... OMIM:256520
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Misalignment of incisors, 11 pairs of ribs, Bicoronal synostosis, Prominent nasa... OMIM:619184
Restrictive Dermopathy 1
Natal tooth, Micrognathia, Narrow mouth, Neonatal death, Atrial septal defect, Choanal atresia, H... OMIM:275210
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Dilated fourth ventricle, Chorioretinal atrophy, Hydrocephalus, Dandy-Walk... OMIM:220220
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Absent radius, Anal atresia, Short me... OMIM:263650
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth OMIM:615905
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Retrognathia, Umbilical hernia, Hypertrophic cardiomyopathy, Anteverted nares, Cutis... OMIM:612938
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Microretrognathia, Narrow jaw, Cyanosis, Episodic respiratory distres... ORPHA:98914
Congenital Myasthenic Syndrome
Congenital hip dislocation, Microretrognathia, Narrow jaw, Cyanosis, Episodic respiratory distres... ORPHA:590
Gapo Syndrome
Choanal atresia, Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Delayed eruption... ORPHA:2067
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Ventriculomegaly, Acetabular dysplasia, Colpocephaly, Distal arthrogryposis, Retin... OMIM:619833
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Downturned corners of mouth, Broad columella, Widely spaced teeth, Open m... OMIM:617865
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Hydrocephalus, Optic nerve hypoplasia OMIM:615181
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Bifid nasal tip, Ankyloglossia, Malar flattening, Mitral valve prolapse, Bilateral cleft palate, ... OMIM:618874
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Lethal Kniest-Like Dysplasia
Hypoplastic ilia, Flared metaphysis, Abnormal cartilage morphology, Broad long bones, Short ribs,... ORPHA:2347
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Branchioskeletogenital Syndrome
Carious teeth, Hypoplasia of the maxilla, Broad nasal tip, Downturned corners of mouth, Upper lim... ORPHA:1299
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Wide nasal bridge, Broad thumb, Tetralogy of Fallot, Hypertrophic cardiom... ORPHA:251071
Walker-Warburg Syndrome
Optic atrophy, Ventriculomegaly, Abnormal optic nerve morphology, Cryptorchidism, Agenesis of cor... ORPHA:899
Frontofacionasal Dysplasia
Tessier cleft, Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, E... ORPHA:1791
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Multiple pterygia OMIM:601809
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Acrodysostosis 1 With Or Without Hormone Resistance
Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Dental malocclusion, Delayed ... OMIM:101800
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... OMIM:612124
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Squared iliac bones, Delayed eruption of permanent teeth,... OMIM:112350
Peters-Plus Syndrome
Square pelvis bone, Micrognathia, Short lingual frenulum, Ventricular septal defect, Limited elbo... OMIM:261540
Triploidy
Finger syndactyly, Intestinal malrotation, Micrognathia, Narrow mouth, Abnormal cardiac septum mo... ORPHA:3376
Raine Syndrome
Natal tooth, Long hallux, Micrognathia, Narrow mouth, Protruding tongue, Neonatal death, Bowing o... OMIM:259775
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth, Purpura, Arthritis ORPHA:375
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Pigmentary retinopathy, Clitoral hypertrophy, Congenital diaphrag... OMIM:309801
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, High palate, Plantar flexion contracture, Paradoxical respiration OMIM:620011
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Recurrent viral upper respiratory tract infections, Ventri... OMIM:616898
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Hydrocephalus, Omphalocele OMIM:258320
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Carious teeth, Dysplasia of the femoral head, Micrognathia, Mitral valve prolapse, Arachnodactyly... ORPHA:536467
Barber-Say Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Velopharyngeal insufficien... OMIM:209885
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Coronal craniosynostosis, Short distal p... ORPHA:2095
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia, Cleft upper lip, Hyposmia, Finger joint hypermobility, Cleft palate OMIM:244200
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border OMIM:620114
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Death in infancy OMIM:272300
Amyloidosis, Hereditary Systemic 1
Increased CSF protein concentration, Cardiomyopathy, Orthostatic hypotension due to autonomic dys... OMIM:105210
Hydrocephalus-Obesity-Hypogonadism Syndrome
Cubitus valgus, Azoospermia, Hydrocephalus, Hypergonadotropic hypogonadism ORPHA:2183
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Solitary Median Maxillary Central Incisor
Choanal atresia, Anosmia, Cleft upper lip, Prominent median palatal raphe, Midnasal stenosis, Sol... OMIM:147250
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Increased mitochondrial number, Palpitations, T-wave inversion, Arrhythmia, Ventr... ORPHA:263297
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft lip, Anteverted nares, Micrognathia, Submucous cleft hard palate, Supernumerary ... OMIM:619122
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bowing of the long... ORPHA:3103
Oromandibular Dystonia
Abnormality of the nose, Abnormality of the temporomandibular joint, Abnormal mandible morphology... ORPHA:93958
Adams-Oliver Syndrome 2
Hydrocephalus, Optic atrophy, Lateral ventricle dilatation OMIM:614219
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental crowding... OMIM:123500
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Orofaciodigital Syndrome V
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Hamartoma of tongue, Ankyloglossia, Tetralog... OMIM:174300
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Wide nasal bridge, Abnormality of the dentition, Delayed eruption of teeth, Generalized abnormali... ORPHA:2314
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Postsynaptic Congenital Myasthenic Syndromes
High palate, Exertional dyspnea, Orthopnea, Cyanosis ORPHA:98913
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Bowing of the long bo... ORPHA:2050
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Depressed nasal bridge, Aplasia/Hypoplasia of the capital femoral epiphysis... OMIM:215150
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft upper lip, Bifid uvula, High palate, Nasal polyposis OMIM:155145
Shprintzen-Goldberg Syndrome
High, narrow palate, Hypoplasia of the maxilla, Retrognathia, Elbow dislocation, Umbilical hernia... ORPHA:2462
Chitayat Syndrome
Depressed nasal bridge, Respiratory distress, Anteverted nares, Short columella, Hallux valgus, B... OMIM:617180
Miller-Dieker Lissencephaly Syndrome
Wide nasal bridge, Joint contracture of the hand, Delayed eruption of teeth, Thick upper lip verm... OMIM:247200
Short Syndrome
Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Downturned corners of mouth, U... OMIM:269880
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly ORPHA:2266
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Short hallux, High palate, Short metacar... OMIM:268305
Combined Oxidative Phosphorylation Defect Type 29
Increased CSF protein concentration, Increased CSF lactate, Retinopathy, Abnormal autonomic nervo... ORPHA:478029
Marden-Walker Syndrome
High, narrow palate, Joint contracture of the hand, Long philtrum, Anteverted nares, Micrognathia... OMIM:248700
Fibrochondrogenesis
Depressed nasal bridge, Hypoplastic scapulae, Abnormal diaphysis morphology, Camptodactyly of fin... ORPHA:2021
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations ORPHA:276556
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Prominent nose, Microg... OMIM:610706
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Ankle flexion contracture, Depressed nasal bridge, Natal tooth, Volvulus, Micrognathia, Short nose OMIM:617802
Larsen Syndrome
Depressed nasal bridge, Elbow dislocation, Cleft upper lip, Knee dislocation, Accessory carpal bo... OMIM:150250
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Depressed nasal bridge, Mandibular prognathia, Unilateral cleft lip, Thick lower lip vermilion, B... OMIM:619103
Geroderma Osteodysplasticum
Abnormality of the dentition, Hypoplasia of the maxilla, Periodontitis, Progeroid facial appearan... OMIM:231070
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Abnormal auditory evoked potentials, Agenesis of corpus callosum, Hydrocephalus... OMIM:109120
Simpson-Golabi-Behmel Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Ventricular septal defect, Atrial septal defect, ... ORPHA:373
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Craniofrontonasal Syndrome
Axillary pterygium, Abnormality of the dentition, Coronal craniosynostosis, Wide nasal bridge, Bi... OMIM:304110
Ramos-Arroyo Syndrome
Depressed nasal bridge, Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Respiratory dist... ORPHA:1051
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Retrognathia, Sudden episodic apnea, Hip dysp... ORPHA:466722
Coffin-Lowry Syndrome
Thick nasal septum, Cutis marmorata, Open mouth, Everted lower lip vermilion, High palate, Short ... OMIM:303600
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal joint morphology, Micrognathia, Fibular bowing, Abnormal pelvis bo... ORPHA:1427
Pure Autonomic Failure
Syncope, Impotence, Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:441
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Narrow nasal bridge, Hypodontia, Hip dysplasia, Finger joint hypermobility,... ORPHA:544503
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Flexion contracture, Agenesis of corpus callosum, Hydrocephalus, Retinal degeneration OMIM:615249
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Aplasia/Hypoplasia involving the nose, Respiratory distress, Narrow mouth, Situs in... ORPHA:990
Gigantiform Cementoma, Familial
Tooth malposition, Cementoma, Multiple impacted teeth OMIM:137575
4H Leukodystrophy
Hypodontia, Abnormality of the dentition, Delayed eruption of teeth ORPHA:289494
Antley-Bixler Syndrome
Choanal atresia, Hypoplasia of the zygomatic bone, Long philtrum, Delayed cranial suture closure,... ORPHA:83
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Congestive heart failure, Paroxysmal atrial tachycardia, Cardiac arrest, Retinal d... ORPHA:49827
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Macroglossia, High palate ORPHA:254864
Steatocystoma Multiplex
Natal tooth OMIM:184500
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations ORPHA:276575
Renal Nutcracker Syndrome
Varicocele, Infertility, Dysmenorrhea, Vulval varicose vein, Syncope, Dyspareunia, Orthostatic hy... ORPHA:71273
Spastic Paraplegia 16, X-Linked
Short distal phalanx of finger, Hypoplasia of the maxilla OMIM:300266
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Abnormal oral mucosa morphology, Depressed nasal bridge, Conical tooth, Hypoplasia of the maxilla... OMIM:305100
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Dystonia-Deafness Syndrome 1
Cleft upper lip, Femoral retroversion, Cleft palate, Hypoplastic scapulae OMIM:607371
Amish Lethal Microcephaly
Micrognathia, Cleft soft palate, Spina bifida, Death in infancy ORPHA:99742
Cerebrofaciothoracic Dysplasia
Cleft upper lip, Rib fusion, Bifid ribs, Short nose, Broad philtrum, Wide mouth, Cleft palate, Wi... ORPHA:1394
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Tachycardia, Syncope, Palpitations ORPHA:276580
Melnick-Needles Syndrome
Tooth malposition, Hypoplastic scapulae, Delayed cranial suture closure, Micrognathia, Genu valgu... OMIM:309350
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Bifid uvula, Micrognathia, Cleft palate OMIM:606164
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Coronal craniosynostosis, Aplastic clavicle, Delayed cranial suture closure, Abnormal dental enam... ORPHA:85199
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Depressed nasal bridge, Respiratory distress, Femoral bowing, Tibial bowing, Neonatal death, Palm... OMIM:616482
Glass Syndrome
Micrognathia, Narrow mouth, Arachnodactyly, Long nose, High palate, Pierre-Robin sequence, Broad ... OMIM:612313
Osteogenesis Imperfecta, Type X
Thin ribs, Dentinogenesis imperfecta, Respiratory distress, Broad ribs, Micrognathia, Genu valgum... OMIM:613848
Parkinsonism-Dystonia 2, Infantile-Onset
Abnormal autonomic nervous system physiology OMIM:618049
Schinzel-Giedion Syndrome
Overlapping toe, Micrognathia, Overlapping fingers, Radioulnar synostosis, High palate, Short nos... ORPHA:798
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Agenesis of permanent teeth, Cleft soft palate, Short h... OMIM:216300
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Orofacial Cleft 15
Palate fistula, Bulbous nose, Bilateral cleft palate, Bilateral cleft lip, Agenesis of lateral in... OMIM:616788
Holoprosencephaly 4
Depressed nasal bridge, Depressed nasal tip, Median cleft palate, Median cleft upper lip, Absent ... OMIM:142946
Goldberg-Shprintzen Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Small hand, Bulbous nose, Prominent nasal bridge, O... OMIM:609460
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocytoid cardiomyopathy, Agenesis of co... OMIM:300952
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Craniosynostosis, Hydrocephalus, Umbilical hernia ORPHA:1516
Arboleda-Tham Syndrome
Enlarged proximal interphalangeal joints, Genu valgum, Narrow mouth, Ventricular septal defect, S... OMIM:616268
Hallermann-Streiff Syndrome
Thin ribs, Natal tooth, Micrognathia, Narrow mouth, Telangiectasia, Everted lower lip vermilion, ... OMIM:234100
Pitt-Hopkins Syndrome
Tooth malposition, Small hand, Triangular nasal tip, Esophagitis, Broad fingertip, Abnormal patte... ORPHA:2896
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Ankyloglossia, Cleft soft palate, Open mouth, Reduced subcutaneous adipose tissue, Excessive wrin... OMIM:619950
Kleefstra Syndrome
Delayed eruption of teeth, Downturned corners of mouth, Tetralogy of Fallot, Anteverted nares, Te... ORPHA:261494
Arterial Tortuosity Syndrome
Esophagitis, Arachnodactyly, Hip dislocation, Short nose, Hypertrophic cardiomyopathy, Avascular ... ORPHA:3342
Spondyloepiphyseal Dysplasia Congenita
Cervical myelopathy, Bifid uvula, Respiratory distress, Delayed pubic bone ossification, Malar fl... OMIM:183900
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Diamond-Blackfan Anemia 1
Depressed nasal ridge, Hypoplastic ilia, Tricuspid stenosis, Retrognathia, Cleft upper lip, Delay... OMIM:105650
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Arthrogryposis, Distal, Type 12
Ankle flexion contracture, Absent distal interphalangeal creases, Dental crowding, Mitral valve p... OMIM:620545
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Depressed nasal bridge, Long philtrum, Premature skin wrinkling, Respirato... ORPHA:363705
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Optic atrophy, Ventriculomegaly, Cerebral ischemia, Arrhythmia, Telangiectasia of the skin, Hydro... ORPHA:60040
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Ankyloglossia, Microg... ORPHA:740
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus ORPHA:141333
Odontomicronychial Dysplasia
Abnormality of the dentition, Carious teeth, Premature loss of primary teeth, Premature eruption ... ORPHA:1811
Isotretinoin Syndrome
Depressed nasal bridge, Spina bifida occulta, Micrognathia, Cleft palate ORPHA:2305
Birk-Barel Syndrome
Bifid uvula, Microretrognathia, Tented upper lip vermilion, Reduced subcutaneous adipose tissue, ... OMIM:612292
Branchio-Oculo-Facial Syndrome
Wide nasal bridge, Upper lip pit, Broad nasal tip, Tooth agenesis, Premature graying of hair, Pre... ORPHA:1297
1Q44 Microdeletion Syndrome
Ventriculomegaly, Optic disc hypoplasia, Agenesis of corpus callosum, Hydrocephalus, Prominent me... ORPHA:238769
Cutis Laxa, Autosomal Recessive, Type Iic
Narrow naris, Biventricular hypertrophy, Overlapping toe, Narrow mouth, Reduced subcutaneous adip... OMIM:617402
Nail-Patella Syndrome
Elongated radius, Cleft upper lip, Patellar hypoplasia, Hypoplastic radial head, Limited elbow ex... OMIM:161200
Kleefstra Syndrome 1
Natal tooth, Persistence of primary teeth, Anteverted nares, Conotruncal defect, Protruding tongu... OMIM:610253
Microcephaly 30, Primary, Autosomal Recessive
Secundum atrial septal defect, Cleft soft palate, Thin upper lip vermilion, Choanal stenosis, Cli... OMIM:620183
Popliteal Pterygium Syndrome
Bifid uvula, Intercrural pterygium, Popliteal pterygium, Fibrous syngnathia, Cleft upper lip, Cut... OMIM:119500
Seckel Syndrome 1
Ivory epiphyses, Dental malocclusion, Dental crowding, Selective tooth agenesis, Dislocated radia... OMIM:210600
Braddock-Carey Syndrome 2
Retrognathia, Clinodactyly, Bulbous nose, Wide mouth, Cleft palate, Pierre-Robin sequence OMIM:619981
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter OMIM:615770
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Bowing of the long bones, P... OMIM:611561
Cree Impaired Intellectual Development Syndrome
Cutaneous finger syndactyly, Micrognathia, Cleft soft palate, Aplasia/Hypoplasia of the ribs, Roc... OMIM:606851
Meier-Gorlin Syndrome 4
Genu recurvatum, Hypoplasia of the maxilla, Slender long bone, Thick lower lip vermilion, Microgn... OMIM:613804
Vici Syndrome
Depressed nasal bridge, Dilated cardiomyopathy, Everted upper lip vermilion, Long philtrum, Cleft... OMIM:242840
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Krabbe Disease
Decreased nerve conduction velocity, Increased CSF protein concentration, Optic atrophy, Hydrocep... OMIM:245200
Codas Syndrome
Congenital hip dislocation, Depressed nasal bridge, Absent epiphyses, Delayed eruption of teeth, ... OMIM:600373
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia, Male infertility, Bilateral cryptorchidism OMIM:261550
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent upper respiratory tract infections, Dental crowding, Umbilical hernia, Persistence of p... OMIM:619769
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Rothmund-Thomson Syndrome Type 2
Erythema, Carious teeth, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs,... ORPHA:221016
Multiple Acyl-Coa Dehydrogenase Deficiency
Depressed nasal bridge, Respiratory distress, Neonatal death, Jaundice, Wide anterior fontanel OMIM:231680
Chromosome 1P36 Deletion Syndrome, Distal
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, High palate, Short foot, ... OMIM:607872
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Broad thumb, Umbilical hernia, Short columella, Ventricular septal defect, Abnormality of the phi... ORPHA:1770
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mi... ORPHA:505248
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Dilated cardiomyopathy, Encephalocele, Agenesis of corpus callosum, Retinal detach... OMIM:253800
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Congenital stationary night blindness, Hydrocephalus, Ol... ORPHA:8
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Tachycardia, Intracranial hemorrhag... ORPHA:449285
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Tarsal synost... OMIM:147891
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Tach... OMIM:263000
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Choanal atresia, Retrognathia, Muscular ventricular septal defect, Wide nose, Submucous cleft har... OMIM:619227
Focal Facial Dermal Dysplasia Type Iv
Cleft palate, Cleft upper lip ORPHA:398189
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations ORPHA:324575
Tricuspid Atresia
Hypoplasia of right ventricle, Cyanosis, Patent foramen ovale, Ventricular septal defect, Transpo... ORPHA:1209
Holoprosencephaly
Encephalocele, Ventricular septal defect, Choanal atresia, Depressed nasal ridge, Aplasia/Hypopla... ORPHA:2162
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Depressed nasal bridge, Metaphyseal cupping, Aplastic clavicle, Natal tooth... ORPHA:50945
Pfeiffer Syndrome Type 3
Choanal atresia, Depressed nasal bridge, Small hand, Toe syndactyly, Finger syndactyly, Broad thu... ORPHA:93260
Bamforth-Lazarus Syndrome
Choanal atresia, Retrognathia, Cleft palate ORPHA:1226
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, Impotence, A... OMIM:169500
Myhre Syndrome
Aortic valve stenosis, Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Narrow mouth, Ventr... OMIM:139210
Immunodeficiency 95
Respiratory distress, Recurrent viral upper respiratory tract infections OMIM:619773
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Depressed nasal bridge, Respiratory distress, Hypertrophic cardiomyopathy, Myofiber disarray, Dea... OMIM:604377
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Mandibular prognathia, Depressed nasal bridge, Small hand, Delayed er... OMIM:268400
Saethre-Chotzen Syndrome
Lambdoidal craniosynostosis, Partial duplication of the distal phalanx of the 3rd finger, Toe syn... OMIM:101400
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Trisomy 18
Choanal atresia, Microretrognathia, Deviation of finger, Abnormal rib morphology, Camptodactyly o... ORPHA:3380
Distal Deletion 19P
Hypoplasia of the maxilla, Umbilical hernia, Ventricular septal defect, Arachnodactyly, Tricuspid... ORPHA:96129
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Clinodactyly of the 5th finger OMIM:167730
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Small hand, Toe syndactyly, Cutis marmorata, Micrognathia, Ventricular septal defect, Limited elb... OMIM:610759
Bardet-Biedl Syndrome 16
Respiratory distress, Polydactyly OMIM:615993
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Autosomal Recessive Robinow Syndrome
Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Broad thumb, Op... ORPHA:1507
Diamond-Blackfan Anemia 10
Choanal atresia, Respiratory distress, Micrognathia, Malar flattening, Ventricular septal defect,... OMIM:613309
Variant Abeta2M Amyloidosis
Reduced left ventricular ejection fraction, Abnormal autonomic nervous system physiology ORPHA:314652
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Tooth malposition, Hypoplasia of the maxilla, Depressed nasal bridge, Broa... OMIM:277600
Albers-Schönberg Osteopetrosis
Optic atrophy, Joint dislocation, Genu valgum, Hydrocephalus, Arthritis, Osteoarthritis, Facial p... ORPHA:53
Wolf-Hirschhorn Syndrome
Wide nasal bridge, Downturned corners of mouth, Cleft upper lip, Abnormal lip morphology, Abnorma... ORPHA:280
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Micrognathia, Abnormal rib morphology, Cleft palate, Hypoplastic distal segments of scapulae, Pie... OMIM:602196
Muscle-Eye-Brain Disease
Optic atrophy, Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Myotonic Dystrophy 2
Hypogonadism, Palpitations, Premature ventricular contraction, Oligozoospermia, Tachycardia, Righ... OMIM:602668
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Depressed nasal bridge, Abnormal epiphysis morphology, Umbilical... ORPHA:226313
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Dermatitis Herpetiformis
Dental enamel pits, Erythema, Delayed eruption of teeth, Erosion of oral mucosa, Urticaria ORPHA:1656
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Microglossia, Retrognathia, Short thumb, Micrognathia, Narrow mouth, Fibular hy... OMIM:227270
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Pigmentary retinopathy, Pulmonary arterial hypertension, Hydrocephalus, Bradycardia,... OMIM:277400
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip, Absent radius OMIM:179400
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Anteverted nares, Narrow mouth, Death in infancy, ... ORPHA:1790
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri... OMIM:601493
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla, Clinodactyly of the 2nd finger, Long philtrum, Prominent fingertip pad... ORPHA:251061
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Large placenta, Micrognathia, Neonatal death, Diaphyse... OMIM:215140
Naxos Disease
Cardiomyopathy, Cleft upper lip ORPHA:34217
Hec Syndrome
Cardiomyopathy, Arrhythmia, Abnormal retinal vascular morphology, Vaginal hydrocele, Communicatin... ORPHA:2119
Pachyonychia Congenita
Natal tooth, Oral leukoplakia, Respiratory distress, Angular cheilitis, Advanced eruption of teeth ORPHA:2309
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Zimmermann-Laband Syndrome 1
Wide nasal bridge, Short distal phalanx of finger, Mandibular prognathia, Broad nasal tip, Delaye... OMIM:135500
Schneckenbecken Dysplasia
Hypoplastic scapulae, Stillbirth, Umbilical hernia, Short nose, Advanced tarsal ossification, Mal... OMIM:269250
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus, Congestive heart failure OMIM:300886
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Block vertebrae, Broad nasal tip, Failure of eruption of permanent teeth, A... OMIM:272460
Cardiofacioneurodevelopmental Syndrome
Cleft lip, Atrioventricular canal defect, Micrognathia, Ventricular septal defect, Pulmonic steno... OMIM:619123
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Retrognathia, Postaxial foot polydactyly, Anteverted ... OMIM:619879
Cerebrofacioarticular Syndrome
Wide nasal bridge, Anal stenosis, Hypoplasia of the maxilla, Caudal appendage, Anteriorly placed ... ORPHA:314679
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth, Genu valgum, Diaphyseal sc... OMIM:259710
Dyssegmental Dysplasia, Silverman-Handmaker Type
Wide nasal bridge, Hypoplastic ilia, Broad long bones, Abnormal heart morphology, Pterygium, Club... ORPHA:1865
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Natal tooth, Delayed eruption of teeth, Oligodontia, Hypodontia, Hip dislocation OMIM:614381
Isolated Arrhinia
Tessier cleft, Underdeveloped nasal alae, Aplasia of the nose, Respiratory distress, Midline defe... ORPHA:1134
Arthrogryposis, Distal, Type 5D
Congenital hip dislocation, Elbow flexion contracture, Furrowed tongue, Limited knee flexion, Mic... OMIM:615065
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Xerostomia, Toe syndactyly, Absence of Stensen duct, Ectodermal dysplasia, Abnorma... OMIM:129900
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Cleft palate ORPHA:2736
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Large fontanelles, Cryptorchidism, Radioulnar synostosis, Hydrocephalus, Microp... ORPHA:171839
Meier-Gorlin Syndrome 3
Hypoplasia of the maxilla, Microretrognathia, Slender long bone, Patellar hypoplasia, Micrognathi... OMIM:613803
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Clinodactyly, Small placenta, Micrognathia, Concave nasal ridge, Clino... ORPHA:73272
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Branchiogenic-Deafness Syndrome
Short distal phalanx of finger, Branchial fistula, Branchial cyst, Submucous cleft hard palate, T... OMIM:609166
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... ORPHA:90652
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Papilledema, Hydrocephalus OMIM:260500
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Tooth malposition, Hypoplasia of the maxilla, Depressed nasal bridge, Broa... OMIM:608328
Faciocardiomelic Syndrome
Depressed nasal bridge, Dental malocclusion, Slender long bone, Long philtrum, Hyperplasia of the... OMIM:612731
Houge-Janssens Syndrome 2
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Prominent metopic ridge OMIM:616362
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Dominant Beta-Thalassemia
Abnormality of the dentition, Depressed nasal bridge, Dilated cardiomyopathy, Hyperplasia of the ... ORPHA:231226
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Depressed nasal bridge, Broad distal phalanx of finger, Dental crowding, Delayed eru... OMIM:300990
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Ventriculomegaly, Abnormal autonomic nervous system physiology OMIM:617903
Nijmegen Breakage Syndrome
Choanal atresia, Anal stenosis, Sandal gap, Cleft upper lip, Malar prominence, Micrognathia, Conj... OMIM:251260
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Micrognathia, Median cleft palate, Submucous cleft hard palate, Ventricul... OMIM:301043
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Supraventricular tac... OMIM:612158
Lethal Acantholytic Erosive Disorder
Natal tooth, Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finge... ORPHA:158687
Achondroplasia
Depressed nasal bridge, Radial bowing, Flared metaphysis, Respiratory distress, Femoral bowing, L... OMIM:100800
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Focal Dermal Hypoplasia
Toe syndactyly, Telangiectasia, Foot polydactyly, Short metacarpal, Broad nasal tip, Myelomeningo... OMIM:305600
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Natal tooth, Occipital encephalocele, Clinodactyly, Micrognathia, Lar... OMIM:249000
Monosomy 9Q22.3
Delayed eruption of teeth, Long philtrum, Umbilical hernia, Abnormal rib morphology, Narrow mouth... ORPHA:77301
Maternal Uniparental Disomy Of Chromosome 6
Cleft upper lip, Slender long bone, Cleft palate, Miscarriage ORPHA:96181
Choanal Atresia
Nasal congestion, Respiratory distress, Cyanosis, Chronic sinusitis, Polydactyly, Craniosynostosis ORPHA:137914
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... OMIM:313500
Galloway-Mowat Syndrome 7
Cleft lip, Dilated cardiomyopathy, Clinodactyly, Micrognathia, Partial duplication of thumb phala... OMIM:618348
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Arthrogryposis multiplex congenita, Abnormal autonomic nervous system phys... OMIM:243180
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption of teeth, Abnor... ORPHA:1782
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft of the upper lip, Cleft palate ORPHA:1484
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:2182
Isolated Cleft Lip
Velopharyngeal insufficiency, Umbilical hernia, Supernumerary maxillary incisor, Macrodontia, Sit... ORPHA:199302
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Choanal atresia, Anal stenosis, Carious teeth, Xerostomia, Hypoplasia of the maxilla, Selective t... OMIM:604292
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Wolf-Hirschhorn Syndrome
Micrognathia, Ventricular septal defect, Radioulnar synostosis, Short hallux, Atrial septal defec... OMIM:194190
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,... ORPHA:3320
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Omphalocele ORPHA:945
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Triangular mouth, Limited wrist extension, Exertional dysp... ORPHA:98915
Koolen-De Vries Syndrome
High, narrow palate, Abnormality of the dentition, Wide nasal bridge, Underdeveloped nasal alae, ... ORPHA:96169
Distal Deletion 3P
Downturned corners of mouth, Long philtrum, Umbilical hernia, Atrioventricular canal defect, Ante... ORPHA:1620
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Abnormality of the dentition, Ectodermal dysplasia, Cleft upper lip OMIM:273400
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Depressed nasal bridge, Hypoplastic ilia, Metaphyseal cupping, Radial bowing, Stillbir... OMIM:151210
Mogs-Cdg
Retrognathia, Respiratory distress, Overlapping fingers, Apnea, Hypoventilation, Cardiomegaly, Le... ORPHA:79330
Erythermalgia, Primary
Palpitations, Abnormal autonomic nervous system physiology OMIM:133020
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Delayed eruption of permanent teeth, Tented upper lip vermilion, Tapered finge... ORPHA:521445
Infantile Neuroaxonal Dystrophy
Optic atrophy, Flexion contracture, Abnormality of peripheral nerve conduction, Abnormal autonomi... ORPHA:35069
Brachydactyly, Type E1
Type E brachydactyly, Multiple impacted teeth, Short clavicles, Brachydactyly, Short metatarsal, ... OMIM:113300
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Genu valgum, Hydrocephalus, Retinal degeneration OMIM:615630
Mucopolysaccharidosis-Plus Syndrome
Wide nasal bridge, Respiratory distress, Hypertrophic cardiomyopathy, Acetabular dysplasia, Death... OMIM:617303
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Delayed cranial suture closure, Elbow ankylosis, Abnormal metacarpal morpholog... ORPHA:2658
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Joint contracture of the hand, Respiratory distress, Knee contracture, Death in childhood, Death ... OMIM:620278
De Barsy Syndrome
Congenital hip dislocation, Delayed eruption of teeth, Prominent veins on trunk, Umbilical hernia... ORPHA:2962
Fabry Disease
Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Abnormal autono... OMIM:301500
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Ventricular septal defect, Bicusp... ORPHA:353281
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Angioedema, Swollen lip ORPHA:100057
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Clinodactyly, High palate, Wide nose, Coronal craniosynostosis, Hypo... OMIM:614188
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Muscular Dystrophy, Congenital, Lmna-Related
Elbow contracture, Paroxysmal atrial fibrillation, Hamstring contractures, Hip contracture, Parox... OMIM:613205
Left Ventricular Noncompaction 1
Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg... OMIM:604169
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Umbilical hernia, Hydrocephalus, Shoulder dislocation ORPHA:2181
Tremor-Ataxia-Central Hypomyelination Syndrome
Autonomic bladder dysfunction, Optic atrophy, Hypogonadotropic hypogonadism ORPHA:447896
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Chorioretinal coloboma ORPHA:163961
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Wide nasal bridge, Bifid uvula, Downturned corners of mouth, Underdeveloped nasal alae, Abnormal ... ORPHA:453499
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Finger syndactyly, Cutis marmorata, Micrognathia, Ventricular septal ... ORPHA:818
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Increased left vent... OMIM:613424
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Hypospadias OMIM:218350
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Optic atrophy, Hydrocephalus ORPHA:1914
Pseudohypoparathyroidism, Type Ia
Depressed nasal bridge, Short toe, Delayed eruption of teeth, Short finger, Enamel hypoplasia, Br... OMIM:103580
Pseudohypoparathyroidism Type 1B
Depressed nasal bridge, Delayed eruption of teeth, Enamel hypoplasia, Cortical subperiosteal reso... ORPHA:94089
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Bulbous nose, Tented upper lip vermilion, Smooth philtrum, Everted lower ... ORPHA:261144
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Multiple lipomas, Hydrocephalus, Lipoma, Anencephaly OMIM:182940
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Hydrocephalus OMIM:612247
Acromelic Frontonasal Dysostosis
Wide nasal bridge, Bifid nasal tip, Broad nasal tip, Short tibia, Cleft upper lip, Patellar hypop... OMIM:603671
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Pterygium, Agenesis of corpus callosum, Hydrocephalus, Joint c... OMIM:225790
Tetraamelia Syndrome 2
Microretrognathia, Ankyloglossia, Micrognathia, Ventricular septal defect, Bilateral cleft lip, G... OMIM:618021
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Coronal craniosynostosis, Natal tooth, Steep acetabular roof, M... ORPHA:313855
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Concave nasal ridge, Short philtrum, Natal tooth, Cleft palate OMIM:617337
Rabson-Mendenhall Syndrome
Abnormality of the dentition, Dental crowding, Cardiomyopathy, Premature graying of hair, Furrowe... ORPHA:769
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Orofaciodigital Syndrome X
Finger aplasia, Depressed nasal bridge, Retrognathia, Preaxial hand polydactyly, Fibular aplasia,... OMIM:165590
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Tachycardia, Syncope OMIM:192445
X-Linked Centronuclear Myopathy
Respiratory distress, High palate ORPHA:596
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Clinodactyly of the 5th finger, Tape... OMIM:609638
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Ventriculomegaly, Partial agenesis of the corpus callosum, Encephalocele, Retinal detachment, Hyd... OMIM:614643
Fraser Syndrome 1
Cutaneous finger syndactyly, Encephalocele, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia o... OMIM:219000
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Abnormality of frontal sinus, Short thumb, Underdeveloped nasal alae, Overla... ORPHA:436003
Congenital Sialidosis Type 2
Optic atrophy, Cherry red spot of the macula, Abnormal EKG, Umbilical hernia, Inguinal hernia, Te... ORPHA:93400
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Open mouth, Ventricular septal defect... OMIM:280000
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Wide nas... OMIM:301022
Porphyria Variegata
Tachycardia, Scarring, Hypertension, Abnormal autonomic nervous system physiology ORPHA:79473
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Optic atrophy, Torsade de pointes, Hypertrophic cardiomyopathy, Premature thelarche, Ventricular ... OMIM:616878
Al Amyloidosis
Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Abnormal EKG, Hy... ORPHA:85443
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Depressed nasal bridge, Recurrent upper respiratory tract infections, Cariou... OMIM:253200
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rachitic rosary, Delayed eruption... ORPHA:289157
Zttk Syndrome
Wide nasal bridge, Bifid uvula, Abnormality of the dentition, Hypoplasia of the maxilla, Depresse... OMIM:617140
Inherited Creutzfeldt-Jakob Disease
Increased CSF protein concentration, Abnormal autonomic nervous system physiology, Vestibular nys... ORPHA:282166
Cardiofaciocutaneous Syndrome 1
Abnormality of the dentition, Depressed nasal bridge, Dental malocclusion, Open bite, Hypertrophi... OMIM:115150
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy ORPHA:26792
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Dentinogenesis imperfecta, Periodontitis, Retrognathia, Short toe, Prominent nasal bridge, Clinod... OMIM:619269
Joubert Syndrome With Ocular Defect
Retinal coloboma, Encephalocele, Agenesis of corpus callosum, Aganglionic megacolon, Hydrocephalu... ORPHA:220493
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Depressed nasal ridge, Joint dislocation, Short finger, Hypoplastic heart, Micrognathi... OMIM:253290
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth, Esophageal stricture OMIM:616029
Atelosteogenesis, Type I
Elbow dislocation, Radial bowing, Fibular aplasia, Micrognathia, Encephalocele, Neonatal death, A... OMIM:108720
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620438
Nephrotic Syndrome, Type 11
Cleft lip, Dilated cardiomyopathy, Clinodactyly, Micrognathia, Partial duplication of thumb phala... OMIM:616730
Den Hoed-De Boer-Voisin Syndrome
Small hand, Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Sa... OMIM:619229
Congenital Fibrinogen Deficiency
Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Left ven... ORPHA:335
Machado-Joseph Disease
Dilated fourth ventricle, Abnormal autonomic nervous system physiology OMIM:109150
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Wide nasal bridge, Anteverted nares, Micrognathia, Cleft soft palate, Submucous cleft soft palate... ORPHA:2282
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Advanced eruption of teeth, High palate, Mandibular prognathia OMIM:262190
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Retrognathia, Slender long bone, Micrognathia, Brachydactyly, Craniosynostosis, Cleft ... OMIM:618265
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Hyperglycorrhachia, Congestive heart failure, Increased CSF lactate, Ischemic stroke, ... ORPHA:90065
Cerebral Visual Impairment
Optic atrophy, Ischemic stroke, Hydrocephalus, Retinopathy of prematurity, Optic disc pallor, Int... ORPHA:447788
Opitz Gbbb Syndrome
Wide nasal bridge, Cleft lip, Natal tooth, Long philtrum, Umbilical hernia, Abnormal heart morpho... ORPHA:2745
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Wormian bones, Retinal detachmen... ORPHA:2788
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Wide nasal bridge, Broad distal phalanx of finger, Broad nasal tip, Retrognathia, Prominent crus ... OMIM:619194
Atypical Rett Syndrome
Abnormal autonomic nervous system physiology ORPHA:3095
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Mitral regurgitation ORPHA:83473
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Pseudohypoparathyroidism, Type Ic
Depressed nasal bridge, Delayed eruption of teeth, Enamel hypoplasia, Brachydactyly, Short metata... OMIM:612462
Congenital Disorder Of Glycosylation, Type Ig
Recurrent upper respiratory tract infections, Short tibia, Sandal gap, Respiratory distress, Pate... OMIM:607143
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Immunodeficiency 49
Natal tooth, Umbilical hernia, Micrognathia, Wormian bones, Short philtrum OMIM:617237
Down Syndrome
Narrow mouth, Protruding tongue, Open mouth, Ventricular septal defect, Celiac disease, Anal atre... ORPHA:870
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Hypertensive retinopathy, Episodic hyp... OMIM:171300
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Overlapping toe, Micrognathia, Ventricular septal defect, Bicuspid aortic valve, Bro... ORPHA:508498
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Depressed nasal tip, Abn... ORPHA:2399
Roberts-Sc Phocomelia Syndrome
Clinodactyly, Hyperplasia of the maxilla, Narrow naris, Micrognathia, Ventricular septal defect, ... OMIM:268300
Bresek Syndrome
Decreased testicular size, Cryptorchidism, Aganglionic megacolon, Hydrocephalus, Optic nerve hypo... ORPHA:85284
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Inguinal hernia, Agenesis of corpus callosum, Sagittal craniosynostosis, H... ORPHA:459061
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Beta-Thalassemia Major
Abnormality of the dentition, Depressed nasal bridge, Dilated cardiomyopathy, Hyperplasia of the ... ORPHA:231214
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Micrognathia, Ventricular septal ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Micrognathia, Ventricular septal ... ORPHA:353277
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Genu valgum, Ventricular septa... OMIM:143095
Acquired Methemoglobinemia
Tachycardia, Arrhythmia, Palpitations, Syncope ORPHA:464453
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Ventriculomegaly, Dysplastic corpus callosum, Hydrocephalus, Dandy-Walker malforma... OMIM:617281
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Odontoonychodermal Dysplasia
Erythema, Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of... OMIM:257980
Microphthalmia, Syndromic 2
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Contracture of the proxi... OMIM:300166
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Abnormality of the... ORPHA:2701
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Ohdo Syndrome, Sbbys Variant
Depressed nasal bridge, Dilated cardiomyopathy, Bulbous nose, Long hallux, Micrognathia, Long thu... OMIM:603736
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Abnormality of the knee, Tibial metaphyseal... ORPHA:457395
Joubert Syndrome 14
Optic atrophy, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Meningocele, Intracranial... OMIM:614424
Dyssegmental Dysplasia, Silverman-Handmaker Type
Wide nasal bridge, Occipital encephalocele, Pterygium, Micrognathia, Narrow mouth, Malar flatteni... OMIM:224410
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Helsmoortel-Van Der Aa Syndrome
Small hand, Carious teeth, Ankyloglossia, Genu valgum, Mitral valve prolapse, Everted lower lip v... OMIM:615873
Coffin-Siris Syndrome
Wide nasal base, Depressed nasal bridge, Recurrent upper respiratory tract infections, Broad nasa... ORPHA:1465
Cowden Syndrome 5
Colonic diverticula, Hypoplasia of the maxilla, Subcutaneous lipoma, Furrowed tongue, Micrognathi... OMIM:615108
Hennekam Syndrome
Abnormal oral mucosa morphology, Wide nasal bridge, Depressed nasal bridge, Delayed eruption of t... ORPHA:2136
Trichothiodystrophy 3, Photosensitive
Carious teeth, Meckel diverticulum, Natal tooth, Eclabion, Cutaneous photosensitivity, Pyloric st... OMIM:616395
Asbestos Intoxication
Cor pulmonale, Clubbing of fingers, Oxygen desaturation on exertion, Cyanosis, Exertional dyspnea... ORPHA:2302
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contracture, Hypertension OMIM:614653
Desmosterolosis
Bifid uvula, Depressed nasal bridge, Retrognathia, Abnormality of the nose, Intestinal malrotatio... ORPHA:35107
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Micrognathia, Hypoplasia of the maxilla, Enterocolitis, Death in childhood OMIM:301108
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hernia, Ventriculomegaly, Hydrocephalus OMIM:602501
Specc1L-Related Hypertelorism Syndrome
Wide nasal bridge, Finger syndactyly, Long philtrum, Umbilical hernia, Tetralogy of Fallot, Short... ORPHA:1519
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth OMIM:617105
Holt-Oram Syndrome
Hypoplastic left heart, Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent ... ORPHA:392
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Left ventricular hypertrophy, Death in infancy OMIM:616974
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Ventriculomegaly, Congenital contracture, Occipital encephalocele, Cryptorchidism,... OMIM:236670
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal autonomic nervous system physiology, Cerebral vasculitis ORPHA:83601
Fraser Syndrome
Toe syndactyly, Finger syndactyly, Encephalocele, Anal atresia, High palate, Myelomeningocele, Cl... ORPHA:2052
Floating-Harbor Syndrome
Carious teeth, Clinodactyly, Atrial septal defect, Broad fingertip, Long nose, Dislocated radial ... ORPHA:2044
Mend Syndrome
Asymmetry of the mouth, Aortic valve stenosis, Broad hallux, Abnormal heart morphology, Overlappi... ORPHA:401973
Spinal muscular atrophy, type I, with congenital bone fractures
Congenital hip dislocation, Respiratory distress, Arachnodactyly, High palate, Rocker bottom foot OMIM:271225
Peters Plus Syndrome
Toe syndactyly, Micrognathia, Anal atresia, Short foot, Short nose, Hypoplastic left heart, Short... ORPHA:709
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Oligodactyly, Micrognathia, Narrow mouth, Humeroradial synostosis, Neo... OMIM:251230
Tarp Syndrome
Wide nasal bridge, Rocker bottom foot, Meckel diverticulum, Clinodactyly, Tetralogy of Fallot, An... OMIM:311900
Microphthalmia, Lenz Type
Abnormality of the dentition, Delayed eruption of teeth, Finger syndactyly, Camptodactyly of fing... ORPHA:568
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Bilateral cleft lip OMIM:616994
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chylopericardium, Pulmonic stenosis ORPHA:2414
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor, Cutaneous photosensitivity OMIM:616390
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
High palate, Supernumerary tooth, Recurrent upper respiratory tract infections, Persistence of pr... OMIM:619752
Proteus-Like Syndrome
Genu recurvatum, Subcutaneous lipoma, Polycystic ovaries, Retinal detachment, Hydrocephalus, Comm... ORPHA:2969
Hypoglossia-Hypodactyly Syndrome
Wide nasal bridge, Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Hypoplasia of t... ORPHA:989
Autosomal Recessive Cutis Laxa Type 2A
Congenital hip dislocation, Persistent open anterior fontanelle, Delayed cranial suture closure, ... ORPHA:357058
Fibrous Dysplasia Of Bone
Abnormal facial skeleton morphology, Abnormal mandible morphology, Abnormal rib morphology, Abnor... ORPHA:249
Cockayne Syndrome Type 2
Progeroid facial appearance, Widely spaced primary teeth, Hypoplasia of the primary teeth, Delaye... ORPHA:90322
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Familial Dysautonomia
Optic atrophy, Tachycardia, Hypertension, Orthostatic hypotension ORPHA:1764
Toriello-Carey Syndrome
Clinodactyly, Anteriorly placed anus, Cardiomyopathy, Tetralogy of Fallot, Micrognathia, Abnormal... ORPHA:3338
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Erythema, Internally rotated shoulders, Cleft soft palate, Narrow mouth, Micrognathia, Hip contra... OMIM:619503
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Micrognathia, Ventricular septal defect, Short nose, Syndactyly, Cleft... OMIM:616894
Chromosome 15Q25 Deletion Syndrome
Cleft upper lip, Coronary artery fistula, Tented upper lip vermilion, Ventricular septal defect, ... OMIM:614294
Intellectual Developmental Disorder, Autosomal Dominant 58
Wide nasal bridge, Broad nasal tip, Dental crowding, Protruding tongue, Submucous cleft hard pala... OMIM:618106
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Exaggerated median tongue furrow, Ventricular septal defect, 2-3 finger syndactyly, ... OMIM:312870
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Congenital Myopathy 5 With Cardiomyopathy
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v... OMIM:611705
Ectodermal Dysplasia With Adrenal Cyst
Ectodermal dysplasia, Delayed eruption of teeth OMIM:129550
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Vaginal atresia, Septo... ORPHA:3301
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Carious teeth, Natal tooth, Branchial cyst, Clinodactyly, Ankyloglossia, Micrognathia, Atrial sep... OMIM:620186
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Osteopathia striata, Genu valgum, Apl... ORPHA:93357
Kleefstra Syndrome Due To A Point Mutation
Abnormality of the dentition, Natal tooth, Umbilical hernia, Thick lower lip vermilion, Abnormal ... ORPHA:261652
Esophageal Atresia
Barrett esophagus, Choanal atresia, Cleft lip, Clinodactyly, Respiratory distress, Intestinal mal... ORPHA:1199
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Cowden Syndrome 6
Colonic diverticula, Hypoplasia of the maxilla, Subcutaneous lipoma, Furrowed tongue, Micrognathi... OMIM:615109
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus OMIM:610333
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Ventricul... OMIM:212138
Nasu-Hakola Disease
Ventriculomegaly, Abnormal adipose tissue morphology, Hydrocephalus ORPHA:2770
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Hypodontia, Ectodermal dysplasia, Natal tooth, Oligodontia OMIM:601345
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft lip, Neural tube defect, Bilateral cleft palate OMIM:600776
Hypohidrotic Ectodermal Dysplasia
Abnormality of the dentition, Hypoplasia of the maxilla, Xerostomia, Tooth agenesis, Abnormal den... ORPHA:238468
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Serotonin Syndrome
Tachycardia, Hypotension, Abnormality of the autonomic nervous system, Hypertension ORPHA:43116
Microlissencephaly-Micromelia Syndrome
Long philtrum, Respiratory distress, 11 pairs of ribs, Adducted thumb, Short nose ORPHA:50810
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,... ORPHA:542323
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Retrognathia, Umbilical hernia, Tetralogy of Fallot, Bulbous nose, ... OMIM:192430
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum ORPHA:3214
Multiple Mitochondrial Dysfunctions Syndrome 7
Anteverted nares, Apnea, Partial atrioventricular canal defect, Open mouth, Gingival overgrowth, ... OMIM:620423
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Absent thumb, Submucous cleft hard palate, Atrial septal defect, Pulmonic stenosis OMIM:619239
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Broad nasal tip, Retrognathia, Underdeveloped nasal alae, Widely spaced te... ORPHA:268261
Cardiofaciocutaneous Syndrome
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Long philtrum, Hypertrophic cardiomyopa... ORPHA:1340
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile cilia, Immotile sperm, Absent inner dynein arms, Respiratory insuffici... OMIM:614874
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Depressed nasal bridge, Long philtrum, Atrioventricular canal defect, Thin upper lip vermilion, S... OMIM:618929
Noonan Syndrome 2
Wide nasal bridge, Depressed nasal bridge, Prominent fingertip pads, Long philtrum, Cardiomyopath... OMIM:605275
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Wide nasal bridge, Dental malocclusion, Clinodactyly of the 2nd finger, Long philtrum, Micrognath... ORPHA:73223
Schisis Association
Unilateral cleft lip, Encephalocele, Tracheoesophageal fistula, Spina bifida, Anal atresia, Anenc... ORPHA:63862
6P22 Microdeletion Syndrome
Hernia, Hydrocephalus ORPHA:251046
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malform... OMIM:618476
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Neu-Laxova Syndrome
Bifid uvula, Depressed nasal ridge, Retrognathia, Pterygium, Micrognathia, Submucous cleft hard p... ORPHA:2671
Cutis Laxa, Autosomal Recessive, Type Iib
Congenital hip dislocation, Large fontanelles, Inguinal hernia, Agenesis of corpus callosum, Worm... OMIM:612940
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Hydrocephalus OMIM:615599
Achondrogenesis, Type Ii
Microretrognathia, Long philtrum, Broad long bones, Short tubular bones of the hand, Hypoplastic ... OMIM:200610
High Altitude Pulmonary Edema
Cyanosis, Tachypnea, Orthopnea, Dyspnea, Hypoxemia ORPHA:330012
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Carious teeth, Shallow acetabular fossae, Hypo... OMIM:182250
Steinfeld Syndrome
Bifid uvula, Abnormal heart morphology, Median cleft palate, Median cleft upper lip, Aplasia/Hypo... OMIM:184705
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Elbow dislocation, Abnormal dental enamel morphology, Macrodontia, Clinodactyly of the 5th finger... ORPHA:2916
Angelman Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Protruding tongue, Macrogl... OMIM:105830
Chime Syndrome
Erythema, Ventricular septal defect, Short foot, Hip dislocation, Aplasia/Hypoplasia of the phala... ORPHA:3474
Adult-Onset Autosomal Dominant Leukodystrophy
Increased CSF protein concentration, Abnormal auditory evoked potentials, Abnormality of somatose... ORPHA:99027
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Congenital contracture, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus OMIM:620156
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Bifid uvula, Retrognathia, Camptodactyly of finger, Atrioventricular canal defect, Bulbous nose, ... ORPHA:3047
Dubowitz Syndrome
Wide nasal bridge, Carious teeth, Broad nasal tip, Delayed eruption of teeth, Velopharyngeal insu... OMIM:223370
Lymphedema-Distichiasis Syndrome
Cleft upper lip, Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Cleft palate OMIM:153400
Infantile Sialic Acid Storage Disease
Hydrocephalus, Congestive heart failure OMIM:269920
Hyperparathyroidism, Transient Neonatal
Wide nasal bridge, Depressed nasal bridge, Thin ribs, Fractured rib, Metaphyseal spurs, Umbilical... OMIM:618188
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Micrognathia, Acces... OMIM:258860
Holoprosencephaly-Caudal Dysgenesis Syndrome
Median cleft upper lip, Radial club hand, Cleft palate, Abnormal morphology of the radius ORPHA:2165
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Hypoplasia of the maxilla, Ulnar deviation of finger, Long philtrum, Umbilic... ORPHA:1101
Hallermann-Streiff Syndrome
High, narrow palate, Abnormality of the dentition, Choanal atresia, Rib exostoses, Natal tooth, S... ORPHA:2108
Wrinkly Skin Syndrome
Congenital hip dislocation, Carious teeth, Broad nasal tip, Delayed eruption of teeth, Long philt... ORPHA:2834
Coffin-Siris Syndrome 1
Cutis marmorata, Ventricular septal defect, Aplasia/Hypoplasia of the patella, Atrial septal defe... OMIM:135900
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:231550
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Cyanosis, Patent foramen ovale, Cardiomegaly, Atrial septal d... ORPHA:439
Mucopolysaccharidosis, Type Ii
Congestive heart failure, Umbilical hernia, Inguinal hernia, Abnormality of retinal pigmentation,... OMIM:309900
Multiple Sulfatase Deficiency
Hydrocephalus, Optic atrophy, Abnormality of retinal pigmentation, Abnormality of peripheral nerv... ORPHA:585
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Retinal degeneration, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... ORPHA:542306
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Tachycardia, Neuropathic arthropathy, Hypertension, Orthostatic hypotension OMIM:223900
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum OMIM:617542
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Wide nasal base, Tooth malposition, Flared nostrils, Small hand, Overlapping toe, Patellar sublux... ORPHA:480880
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Partial atriovent... OMIM:615996
16P12.1P12.3 Triplication Syndrome
Tachycardia, Bilateral cryptorchidism ORPHA:485405
Tularemia
Tachycardia ORPHA:3392
Fg Syndrome Type 1
Ventriculomegaly, Umbilical hernia, Limited elbow extension and supination, Inguinal hernia, Cryp... ORPHA:93932
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Wide nasal bridge, Coronal craniosynostosis, Thin ribs, Retrognathia, Underdeveloped nasal alae, ... ORPHA:83617
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Dilated cardiomyopathy, Short lingual frenulum, Cyanosis, Double outlet right ve... ORPHA:2326
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Neuropathic arthropathy, Postural hypotension with compensatory tachycardia, Ab... OMIM:256800
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Micrognathia, Genu valgum, Ventricular se... OMIM:271640
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Incontinentia Pigmenti
Erythema, Deviation of finger, Delayed eruption of teeth, Finger syndactyly, Umbilical hernia, Ab... ORPHA:464
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Tetralogy of Fallot, Abnormal pericardium morphology, Abnormal ... ORPHA:1335
Trisomy 1Q
Small scrotum, Ventriculomegaly, Camptodactyly of finger, Congenital diaphragmatic hernia, Crypto... ORPHA:261344
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida OMIM:207950
Trisomy 20P
Umbilical hernia, Camptodactyly of finger, Inguinal hernia, Cryptorchidism, Hernia, Spina bifida,... ORPHA:261318
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Optic disc pallor, Ventriculomegaly, Hydrocephalus OMIM:614195
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Ventriculomegaly, Optic nerve hypoplasia, Inguinal hernia, Aplasia of the vagina, Agenesis of cor... ORPHA:457284
Adnp Syndrome
Depressed nasal bridge, Recurrent upper respiratory tract infections, Broad thumb, Sandal gap, Br... ORPHA:404448
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Baller-Gerold Syndrome
Finger aplasia, Aplasia/Hypoplasia of the radius, Anteriorly placed anus, Narrow nasal bridge, Mi... ORPHA:1225
Acute Transverse Myelitis
Increased CSF protein concentration, Priapism, Hypoglycorrhachia, Autonomic bladder dysfunction, ... ORPHA:139417
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Microglossia, Postaxial polysyndactyly of foot, Preaxial hand polydacty... OMIM:263520
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Atrioventricular canal de... ORPHA:1120
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Submucous cleft hard palate, ... ORPHA:250999
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Ventriculomegaly, Dilated cardiomyopathy OMIM:618321
L1 Syndrome
Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus ORPHA:275543
Charge Syndrome
Choanal atresia, Anosmia, Depressed nasal bridge, Bifid femur, Delayed eruption of teeth, Cleft u... ORPHA:138
Ablepharon Macrostomia Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Toe syndactyly, Hypoplasia of the zygomatic bo... ORPHA:920
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Nocturnal hypoventilation, Death in childhood, Ankle clonus, Dyspnea, Tongu... OMIM:211530
Timothy Syndrome
Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Bradycardia, Pr... OMIM:601005
Buratti-Harel Syndrome
Bifid uvula, Broad thumb, Velopharyngeal insufficiency, Broad hallux, Submucous cleft hard palate... OMIM:619314
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Tooth malposition, Anosmia, Failure of eruption of permanent teeth, Single naris, Hy... ORPHA:2250
3Mc Syndrome 3
Tessier cleft, Clinodactyly, Cleft upper lip, Preaxial polydactyly, Radioulnar synostosis, Cleft ... OMIM:248340
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Arrhythmia, Ventricular tachycardia, Prolonged QT... ORPHA:26793
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Depressed nasal bridge, Everted upper lip vermilion, Hyperplasia of the maxilla, Widely spaced te... ORPHA:513456
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose OMIM:122880
Pettigrew Syndrome
Optic atrophy, Ventriculomegaly, Hydrocephalus, Aqueductal stenosis, Flexion contracture, Dandy-W... OMIM:304340
Witteveen-Kolk Syndrome
Flared nostrils, Small hand, Toe syndactyly, Clinodactyly, Hyperplasia of the maxilla, Overlappin... OMIM:613406
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Respiratory distress, Chronic sinusitis, Chronic rh... ORPHA:922
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Orofaciodigital Syndrome Xiv
Cleft lip, Natal tooth, Microretrognathia, Anteriorly placed anus, Occipital encephalocele, Hamar... OMIM:615948
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Heterotaxy, Visceral, 12, Autosomal
Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ... OMIM:619702
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Open mouth, Narrow mouth, Ventricular septal defect, Atrial septa... OMIM:300967
Acrofacial Dysostosis, Cincinnati Type
Biventricular hypertrophy, Median pseudocleft lip, Micrognathia, Ventricular septal defect, Bicus... OMIM:616462
Primary Ciliary Dyskinesia
Ventriculomegaly, Abnormal sperm motility, Female infertility, Hydrocephalus, Rod-cone dystrophy,... ORPHA:244
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Hypertrophic cardiomyopathy OMIM:613561
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia ORPHA:91359
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Oligozoospermia, Male infertility OMIM:108420
Semilobar Holoprosencephaly
Bifid uvula, Depressed nasal ridge, Single naris, Abnormal pattern of respiration, Proboscis, Abn... ORPHA:220386
Alobar Holoprosencephaly
Bifid uvula, Depressed nasal ridge, Single naris, Abnormal pattern of respiration, Proboscis, Abn... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Bifid uvula, Depressed nasal ridge, Single naris, Abnormal pattern of respiration, Proboscis, Abn... ORPHA:93926
Lobar Holoprosencephaly
Bifid uvula, Depressed nasal ridge, Single naris, Abnormal pattern of respiration, Proboscis, Abn... ORPHA:93924
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Joubert Syndrome 2
Enlarged fossa interpeduncularis, Optic disc coloboma, Chorioretinal coloboma, Encephalocele, Hyd... OMIM:608091
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Lipodystrophy, Bradycardia, Atrial fibrillation, Tachycardia, Flexion cont... OMIM:613327
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Hyperoxemia, Dyspnea, Right ventricular hypertrophy ORPHA:70589
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Succinic Acidemia
Respiratory distress OMIM:600335
Hemangioblastoma
Retinal capillary hemangioma, Hydrocephalus ORPHA:252054
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Ventriculomegaly ORPHA:348
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Abnormal autonomic nervous syst... ORPHA:94093
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Erythema, Carpal synostosis, Micrognathia, Narrow mouth, Patellar ap... OMIM:218600
Danon Disease
Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q... OMIM:300257
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri... OMIM:613873
Hereditary Coproporphyria
Tachycardia, Atypical scarring of skin ORPHA:79273
Cowden Syndrome 1
Colonic diverticula, Hypoplasia of the maxilla, Subcutaneous lipoma, Furrowed tongue, Micrognathi... OMIM:158350
Rothmund-Thomson Syndrome
Abnormality of the dentition, Carious teeth, Aplasia/Hypoplasia of the radius, Delayed eruption o... ORPHA:2909
Diamond-Blackfan Anemia
Wide nasal bridge, Depressed nasal bridge, Cleft lip, Absent thumb, Short thumb, Abnormal heart m... ORPHA:124
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Viss Syndrome
Recurrent joint dislocation, Cleft soft palate, Micrognathia, Genu valgum, Mitral valve prolapse,... OMIM:619472
Ulbright-Hodes Syndrome
Thin ribs, Depressed nasal bridge, Abnormal forearm bone morphology, Abnormal rib morphology, Res... ORPHA:3404
Congenital Heart Block
Pericardial effusion, Endocardial fibroelastosis, Cyanosis, Patent foramen ovale ORPHA:60041
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Male infertility, Absent inner and outer dynein arms OMIM:618801
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Wolfram Syndrome
Optic atrophy, Gastrointestinal hemorrhage, Male hypogonadism, Cardiomyopathy, Hypogonadism, Abno... ORPHA:3463
Rodrigues Blindness
Tooth malposition, Narrow nasal bridge, Nasal flaring, Ectodermal dysplasia OMIM:268320
Malaria
Respiratory distress ORPHA:673
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Macular degeneration, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physio... ORPHA:247234
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micrognathia, Abnormal metacarpal morphology, Aplasia/hypoplasia of the femur, Abnormal finger mo... ORPHA:2636
Chromosome 16P13.3 Duplication Syndrome
Micrognathia, Ventricular septal defect, Atrial septal defect, Hip dislocation, Short nose, Wide ... OMIM:613458
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Exertional dy... OMIM:610921
Pelvis-Shoulder Dysplasia
Hydranencephaly, Camptodactyly of finger, Retinal coloboma, Acetabular dysplasia, Ambiguous genit... ORPHA:2839
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Facial paralysis, Hydrocephalus, Craniosynostosis, Facial palsy OMIM:259700
Microphthalmia With Linear Skin Defects Syndrome
Clitoral hypertrophy, Mitral regurgitation, Congenital diaphragmatic hernia, Agenesis of corpus c... ORPHA:2556
Idiopathic Congenital Hypothyroidism
Umbilical hernia, Delayed cranial suture closure, Large posterior fontanelle, Bradycardia ORPHA:95717
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Coronal craniosynostosis, Dentinogenesis imperfecta, Wide cranial su... OMIM:616294
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Cole-Carpenter Syndrome 1
Coronal craniosynostosis, Dentinogenesis imperfecta, Orbital craniosynostosis, Wormian bones, Hyd... OMIM:112240
Rothmund-Thomson Syndrome Type 1
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Patellar hypoplasia, Toot... ORPHA:221008
Dihydropyrimidine Dehydrogenase Deficiency
Epiphyseal dysplasia, Depressed nasal bridge, Delayed eruption of teeth, Retrognathia, Anteverted... ORPHA:1675
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Noncommunicating hydrocephalus, Prominent metopic ridge OMIM:619320
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Hydrocephalus, Retinal degeneration OMIM:272200
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Occipital encephalocele, Decreased testicular size, Communicating hydrocephalus... OMIM:615287
Breath-Holding Spells
Cyanosis OMIM:607578
Unilateral Ocular Duplication
Median cleft upper lip, Midline facial cleft, Encephalocele, Cleft palate ORPHA:3374
Mucopolysaccharidosis Type 1
Optic atrophy, Joint dislocation, Congestive heart failure, Hypertrophic cardiomyopathy, Retinopa... ORPHA:579
Sturge-Weber Syndrome
Optic atrophy, Pulmonary embolism, Abnormal choroid morphology, Conjunctival telangiectasia, Abno... ORPHA:3205
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Prominent scalp veins, Cutis marmorata, Micrognathia, Cutaneous f... OMIM:151050
Barber-Say Syndrome
Wide nasal bridge, Delayed eruption of teeth, Bulbous nose, Anteverted nares, Wide mouth ORPHA:1231
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Flexion contracture, Facial palsy, Dandy-Walker malformation OMIM:310400
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Respiratory distress, Situs inversus totalis, Dextrocardia, Sinusitis OMIM:606763
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
High, narrow palate, Delayed eruption of teeth, Thick lower lip vermilion, Abnormal dental morpho... ORPHA:369950
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Atrial fibrillation, Tachyca... ORPHA:31826
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Carpal osteolysis, Pterygium, Sclerotic cranial sutures, Arthropathy, Pol... ORPHA:371428
Cornelia De Lange Syndrome
Small hand, Toe syndactyly, Elbow dislocation, Cutis marmorata, Micrognathia, Ventricular septal ... ORPHA:199
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd... ORPHA:887
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Pallister-Killian Syndrome
Aortic valve stenosis, Small hand, Postaxial foot polydactyly, Delayed cranial suture closure, Mi... OMIM:601803
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility OMIM:620103
Treacher Collins Syndrome 1
Choanal atresia, Abnormal heart morphology, Cleft soft palate, Narrow mouth, Micrognathia, Malar ... OMIM:154500
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Frontometaphyseal Dysplasia
Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Micrognathia, Limi... ORPHA:1826
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Genu valgum, Everted lower lip... ORPHA:534
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node ori... ORPHA:398124
Rhombencephalosynapsis
Ventriculomegaly, Abnormality of the uterus, Aganglionic megacolon, Hydrocephalus, Septo-optic dy... ORPHA:59315
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor, Ectodermal dysplasia OMIM:300291
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... OMIM:304120
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu valgum, Hydrocephalus, Genu varum, Flexion contracture, Hip dislocation OMIM:613330
Craniopharyngioma
Optic atrophy, Hypogonadism, Cerebral ischemia, Abnormal hypothalamus morphology, Hypogonadotropi... ORPHA:54595
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Hennekam-Beemer Syndrome
Optic atrophy, Hypotension, Ventriculomegaly, Delayed cranial suture closure, Camptodactyly of fi... ORPHA:2135
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Tricuspid regurgitation, Con... ORPHA:314585
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Dyspnea, Cyanosis ORPHA:1302
Young-Onset Parkinson Disease
Female sexual dysfunction, Male sexual dysfunction, Abnormal autonomic nervous system physiology ORPHA:2828
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Progeroid facial appearance, Premature graying of hair, Hypertrophic cardiomyopathy, Micrognathia... ORPHA:280365
Marbach-Schaaf Neurodevelopmental Syndrome
Depressed nasal bridge, Broad nasal tip, Downturned corners of mouth, Submucous cleft hard palate... OMIM:619680
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Autosomal Recessive Malignant Osteopetrosis
Abnormal epiphysis morphology, Delayed eruption of teeth, Bruising susceptibility, Apnea, Abnorma... ORPHA:667
Joubert Syndrome With Oculorenal Defect
Chorioretinal coloboma, Encephalocele, Aganglionic megacolon, Hydrocephalus, Retinal dystrophy ORPHA:2318
Bacterial Toxic-Shock Syndrome
Cellulitis, Hypotension, Septic arthritis, Fasciitis, Shock, Arthritis, Myocarditis, Tachycardia,... ORPHA:36234
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Ventriculomegaly, Enamel hypoplasia, Hydrocephalus OMIM:614576
Fontaine Progeroid Syndrome
Micrognathia, Narrow mouth, Protruding tongue, Reduced subcutaneous adipose tissue, Neonatal deat... OMIM:612289
Relapsing Fever
Tachycardia, Hypotension, Epistaxis ORPHA:91547
Pontocerebellar Hypoplasia, Type 7
Optic atrophy, Ventriculomegaly, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Micropenis OMIM:614969
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Left ventricular hypertrophy, Dyspnea, Cardiomyopathy ORPHA:86812
Osteogenesis Imperfecta
Thin ribs, Carious teeth, Abnormal tibia morphology, Micrognathia, Genu valgum, Intestinal obstru... ORPHA:666
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Dyspnea, Clubbing OMIM:265120
Fragile X-Associated Tremor/Ataxia Syndrome
Impotence, Hypotension, Hypertension, Abnormal autonomic nervous system physiology ORPHA:93256
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Broad ribs, Joint swelling, Flaring of rib cage, Stomatitis, Fused cervical... OMIM:612852
Ogden Syndrome
Ventriculomegaly, Cardiogenic shock, Delayed cranial suture closure, Inguinal hernia, Cryptorchid... ORPHA:276432
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Congenital hip dislocation, Partial agenesis of the corpus callosum, Large fontane... OMIM:619512
Functioning Gonadotropic Adenoma
Abnormality of the menstrual cycle, Decreased female libido, Ovarian cyst, Enlarged polycystic ov... ORPHA:91348
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Immotile sper... OMIM:613807
Dravet Syndrome
Limited knee extension, Cyanotic episode, Tibial torsion ORPHA:33069
Cherubism
Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin... OMIM:118400
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Hypoplasia of the maxilla, Cleft ala nasi, Narrow nasal base, Mandibular prognathia, Wide nose ORPHA:3044
Peho Syndrome
Optic atrophy, Ventriculomegaly, Hydrocephalus, Flexion contracture, Arthrogryposis multiplex con... ORPHA:2836
Marfanoid-Progeroid-Lipodystrophy Syndrome
Generalized lipodystrophy, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Hydr... OMIM:616914
Wiedemann-Rautenstrauch Syndrome
Thin ribs, Natal tooth, Clinodactyly, Prominent scalp veins, Micrognathia, Narrow mouth, Reduced ... OMIM:264090
Mercury Poisoning
Tachycardia, Hypotension, Hypertension ORPHA:330021
Dural Sinus Malformation
Myelopathy, Subdural hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Papilledema, Hyd... ORPHA:97339
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Hurler Syndrome
Abnormal nerve conduction velocity, Cardiomyopathy, Camptodactyly of finger, Retinopathy, Hernia,... ORPHA:93473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cleft upper lip, Encephalocele, Death in infancy, Macroglossia, Cleft palate OMIM:613150
Nijmegen Breakage Syndrome
Depressed nasal bridge, Anal stenosis, Retrognathia, Prominent nose, Prominent nasal bridge, Deep... ORPHA:647
Graft Versus Host Disease
Fasciitis, Dupuytren contracture, Limited elbow movement, Lipodystrophy, Arthritis, Tachycardia ORPHA:39812
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Encephalocraniocutaneous Lipomatosis
Subcutaneous lipoma, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Multiple central... OMIM:613001
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress ORPHA:254875
Trichorhinophalangeal Syndrome, Type Ii
Rib exostoses, Carious teeth, Hyperplasia of the maxilla, Micrognathia, Bicuspid aortic valve, Co... OMIM:150230
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Tatton-Brown-Rahman Syndrome
Ventriculomegaly, Umbilical hernia, Tricuspid regurgitation, Mitral regurgitation, Cryptorchidism... ORPHA:404443
Hurler Syndrome
Aortic regurgitation, Cardiomyopathy, Umbilical hernia, Mitral regurgitation, Inguinal hernia, Re... OMIM:607014
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Temple Syndrome
Precocious puberty, Hydrocephalus, Cryptorchidism ORPHA:254516
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Tolchin-Le Caignec Syndrome
Wide nasal bridge, Umbilical hernia, Prominent nose, Micrognathia, Narrow mouth, Cardiac rhabdomy... OMIM:618971
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Hypoplasia of penis, Holoprosencephal... ORPHA:77298
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Encephalocele, Hydrocephalus, Agenesis of corpus callosum ORPHA:220497
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Cutis marmorata, I... ORPHA:183
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Rabin-Pappas Syndrome
Retinal detachment, Hydrocephalus, Retinal telangiectasia, Optic nerve hypoplasia OMIM:620155
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduced ... OMIM:617091
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Crimean-Congo Hemorrhagic Fever
Tachycardia, Epididymitis, Diffuse alveolar hemorrhage, Bundle branch block, Hemothorax, Hemoperi... ORPHA:99827
Temple Syndrome
Precocious puberty, Decreased testicular size, Cryptorchidism, Hydrocephalus, Flexion contracture OMIM:616222
Cerebrooculonasal Syndrome
Narrow palate, Downturned corners of mouth, Long philtrum, Proboscis, Anteverted nares, Prominent... OMIM:605627
Meckel Syndrome, Type 6
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly,... OMIM:612284
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Optic disc hypoplasia, Hypogonadism, Hydrocephalus, Micropenis, Hypergonadotrop... OMIM:300514
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Optic atrophy, Optic nerve compression, Lateral ventricle dilatation OMIM:612301
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Spondyloenchondrodysplasia
Hypoplastic ilia, Short distal phalanx of finger, Dental malocclusion, Delayed eruption of teeth,... ORPHA:1855
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Protruding tongue OMIM:619580
Neurodegeneration With Brain Iron Accumulation 5
Abnormal autonomic nervous system physiology OMIM:300894
Camurati-Engelmann Disease
Abnormal pelvic girdle bone morphology, Carious teeth, Craniofacial osteosclerosis, Delayed erupt... ORPHA:1328
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Combined Oxidative Phosphorylation Defect Type 23
Paroxysmal dyspnea, Hypertrophic cardiomyopathy, Cyanosis, Left ventricular hypertrophy, Right ve... ORPHA:444013
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Priapism, Congestive heart failure, Bundle branch block, Car... ORPHA:466677
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Advanced eruption of teeth ORPHA:2348
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Intestinal malrotation, Mitral atresia, Atrioventricular... OMIM:616749
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
Familial Multiple Lipomatosis
Abnormal tricuspid valve morphology, Premature eruption of permanent teeth, Bowing of the long bo... ORPHA:199276
Constricting Bands, Congenital
Tessier cleft, Cleft upper lip, Encephalocele, Hand polydactyly, Ectopia cordis, Cleft palate, Sy... OMIM:217100
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Bohring-Opitz Syndrome
Wide nasal bridge, Depressed nasal bridge, Cleft lip, Joint dislocation, Retrognathia, Prominent ... ORPHA:97297
Metatropic Dysplasia
Hydrocephalus, Camptodactyly of finger ORPHA:2635
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia ORPHA:368
Tetraamelia Syndrome 1
Choanal atresia, Single naris, Cleft upper lip, Micrognathia, Hypoplastic pelvis, Anal atresia, C... OMIM:273395
Charge Syndrome
Micrognathia, Ventricular septal defect, Overriding aorta, Radial head subluxation, Atrial septal... OMIM:214800
Cockayne Syndrome A
Irregular menstruation, Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potential... OMIM:216400
Pallister-Hall Syndrome
Toe syndactyly, Natal tooth, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Ov... ORPHA:672
Mgat2-Cdg
Dental crowding, Respiratory distress, Abnormal heart morphology, Open mouth, Ventricular septal ... ORPHA:79329
Crane-Heise Syndrome
Depressed nasal bridge, Hypoplastic scapulae, Toe syndactyly, Aplastic clavicle, Finger syndactyl... ORPHA:1512
Branchiooculofacial Syndrome
Abnormality of the dentition, Depressed nasal bridge, Broad nasal tip, Short thumb, Cleft upper l... OMIM:113620
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly, Cyanosis ORPHA:391428
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Recurrent aphthous stomatitis, Intestinal obstruction, Arthritis, Acrocyanosis, Purpura... ORPHA:343
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy, Tach... OMIM:614299
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Toe syndactyly, Cleft upper lip, Tetralogy of Fall... OMIM:100300
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Alexander Disease Type Ii
Abnormal autonomic nervous system physiology ORPHA:363722
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Thanatophoric Dysplasia Type 2
Encephalocele, Ventriculomegaly, Holoprosencephaly, Hydrocephalus ORPHA:93274
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Non-midline cleft of the upper lip, Cleft palate ORPHA:1072
Multiple System Atrophy 1, Susceptibility To
Impotence, Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:146500
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Foot polydactyly, Median cleft upper lip, Aplasia/Hypoplasia of the thumb, O... ORPHA:3186
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Small hand, Clinodactyly, Ventricular septal defect, Atrial septal defect, Short foot, Short nose... OMIM:301044
Thanatophoric Dysplasia
Ventriculomegaly, Abnormal sacroiliac joint morphology, Hydrocephalus ORPHA:2655
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Marden-Walker Syndrome
Bifid uvula, Retrognathia, Camptodactyly of finger, Micrognathia, Narrow mouth, Situs inversus to... ORPHA:2461
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Subarachnoid he... ORPHA:90068
Cleft Soft Palate
Cleft soft palate OMIM:119570
10Q22.3Q23.3 Microdeletion Syndrome
Depressed nasal bridge, Microretrognathia, Atrioventricular canal defect, Anteverted nares, Intes... ORPHA:276413
Dyskeratosis Congenita
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Oral leuko... ORPHA:1775
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly, Mitral regurgitation, Knee flexion contracture OMIM:603387
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Bulbous nose, Micrognathia, Trismus OMIM:616271
Tenorio Syndrome
Ventriculomegaly, Delayed cranial suture closure, Syncope, Hydrocephalus, Raynaud phenomenon OMIM:616260
H Syndrome
Cleft upper lip, Gingival overgrowth, Facial telangiectasia, Chronic rhinitis, Hallux valgus, Rec... ORPHA:168569
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Micrognathia, Ventricular septal defect, Neonatal death, Bi... OMIM:265380
Stüve-Wiedemann Syndrome
Abnormality of the dentition, Smooth tongue, Camptodactyly of finger, Respiratory distress, Elbow... ORPHA:3206
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Ventriculomegaly, Abnormal dental enamel morphology, Inguinal hernia, Cryptorchidism, Agenesis of... ORPHA:1812
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p... OMIM:300106
Double Outlet Left Ventricle
Cyanosis, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Tachypnea, Orofacial... ORPHA:3427
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Coccidioidomycosis
Vasculitis, Atypical scarring of skin, Vasospasm, Increased CSF protein concentration, Abnormalit... ORPHA:228123
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Jaundice, Slender finger OMIM:250940
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Cleft upper lip, Tetralogy of Fallot, Death in childhood, Ventricular septal defect, Split hand, ... OMIM:600460
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Coiled sperm flagella, Male infertility, Ciliary dyskinesia OMIM:620197
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Humeroradial synostosis, Hypoplastic labia... OMIM:207410
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Portal hypertension, Cr... OMIM:609136
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Pericarditis, Congestive heart failure ORPHA:163596
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Tooth agenesis, Abnormal dental morphology, Abnormal hip bone morpholo... ORPHA:3353
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Sepsis In Premature Infants
Tachycardia, Hypotension, Abnormality of the anterior fontanelle, Bradycardia ORPHA:90051
Acute Interstitial Pneumonia
Cyanosis, Tachypnea, Dyspnea, Pericardial effusion, Hypoxemia ORPHA:79126
Pachyonychia Congenita 2
Angular cheilitis, Natal tooth, Oral leukoplakia OMIM:167210
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Hydrocephalus, Arthritis, Myocarditis, Erectile dysfunc... ORPHA:3452
Culler-Jones Syndrome
Postaxial polydactyly, Cleft palate, Cleft upper lip OMIM:615849
Chilton-Okur-Chung Neurodevelopmental Syndrome
Ankyloglossia, Micrognathia, Slender finger, Broad nasal tip, Cone-shaped epiphysis, Thin upper l... OMIM:619841
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Pleural Mesothelioma
Respiratory distress, Dyspnea ORPHA:50251
Chand Syndrome
Short fifth metatarsal, Depressed nasal bridge, Agenesis of permanent teeth, Abnormal oral frenul... ORPHA:1401
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Ca... OMIM:212140
Cockayne Syndrome Type 1
Abnormality of the dentition, Progeroid facial appearance, Widely spaced primary teeth, Hypoplasi... ORPHA:90321
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms, Ciliary dyskinesia OMIM:612444
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Hydrocephalus, Cryptorchidism OMIM:609757
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Depressed nasal bridge, Broad distal phalanx of the thumb, Short 3rd meta... ORPHA:79444
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hypertrophic cardiomyopathy, Death in childhood, Exertional dyspnea, High p... OMIM:220110
Alpha-Thalassemia
Pericardial effusion, Malar prominence, Jaundice, Hyperplasia of the maxilla ORPHA:846
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress OMIM:619466
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Wide nasal bridge, Bifid uvula, Hypoplasia of the maxilla, Depressed nasal bridge, Absent thumb, ... ORPHA:500150
Genitopatellar Syndrome
Micrognathia, Patellar aplasia, Hip contracture, Ventricular septal defect, Radioulnar synostosis... OMIM:606170
Ogden Syndrome
Congenital hip dislocation, Ventriculomegaly, Large posterior fontanelle, Delayed cranial suture ... OMIM:300855
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Pulmonic stenosis, Hydrocephalus, Hypospadias, Dandy-Walker malformation OMIM:220210
Stuve-Wiedemann Syndrome 1
Talipes valgus, Elbow flexion contracture, Knee flexion contracture, Pulmonary arterial hypertens... OMIM:601559
Limb-Mammary Syndrome
Bifid uvula, Cleft lip, Toe syndactyly, Oligodactyly, Malar flattening, Submucous cleft soft pala... ORPHA:69085
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology OMIM:614575
Native American Myopathy
Bifid uvula, Downturned corners of mouth, Micrognathia, Submucous cleft soft palate, Camptodactyl... ORPHA:168572
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, High palate OMIM:619272
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cyanosis, Cardiomegaly, Tricus... ORPHA:555874
Houge-Janssens Syndrome 1
Congenital hip dislocation, Ventriculomegaly, Hydrocephalus OMIM:616355
Treacher Collins Syndrome 2
Choanal atresia, Microretrognathia, Hypoplasia of the zygomatic bone, Retrognathia, Fusion of mid... OMIM:613717
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Left ventricular hypertrophy OMIM:616733
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia ORPHA:263455
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Dilated cardiomyopathy, Ventricular tachycardia OMIM:615821
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... OMIM:607941
Lymphedema-Distichiasis Syndrome
Cleft upper lip, Cleft palate ORPHA:33001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus, Retinal dystrophy OMIM:616538
Muenke Syndrome
Coronal craniosynostosis, Tarsal synostosis, Hydrocephalus, Carpal synostosis ORPHA:53271
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, Joint dislocation, Subdural hemorrhage, Subependymal nodules, Retinal hemorrhag... ORPHA:25
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Male hypogonadism, Delayed menarche, Azoospermia, Decreased testicular size,... ORPHA:52901
Ring Chromosome 7 Syndrome
Small hand, Prominent crus of helix, Narrow naris, Genu valgum, Narrow mouth, Short nose, Short 5... ORPHA:1449
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Hereditary Angioedema Type 1
Dermatographic urticaria, Respiratory distress, Intestinal edema, Dyspnea, Abnormal soft palate m... ORPHA:100050
Restrictive Dermopathy
Thin ribs, Choanal atresia, Microcolon, Natal tooth, Aplasia/Hypoplasia involving the nose, Campt... ORPHA:1662
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Phocomelia, Schinzel Type
High, narrow palate, Finger aplasia, Radial bowing, Ectrodactyly, Aplasia/Hypoplasia involving th... ORPHA:2879
Laryngomalacia
Respiratory distress OMIM:150280
Trisomy 17P
Aortic valve stenosis, Hydrocephalus, Hypoplasia of penis, Flexion contracture, Prominent metopic... ORPHA:261290
Haddad Syndrome
Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:99803
Renpenning Syndrome 1
Joint contracture of the hand, Micrognathia, Narrow mouth, Death in childhood, Ventricular septal... OMIM:309500
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft, Depressed nasal bridge, Abnormal pelvis bone ossification, Cleft upper lip, Long p... ORPHA:93271
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Optic atrophy, Right bundle branch block, Hydrocephalus OMIM:618590
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Absent inner and outer dynein arms, Respiratory insufficiency due to defective ci... OMIM:614935
Rett Syndrome
Increased CSF lactate, Abnormal CSF pyruvate family amino acid concentration, Abnormal autonomic ... ORPHA:778
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal female external genitalia morphology, Decreased fertility, Humeroradial synostosis, Cryp... ORPHA:95699
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Recurrent upper respiratory tract infections, Delayed eruption of teeth, Gingival overgrowth, Sho... ORPHA:508542
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Tricuspid regurgitation, ... OMIM:620371
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Delayed eruption of primary teeth, Abs... OMIM:149730
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Coffin-Siris Syndrome 12
Broad thumb, Velopharyngeal insufficiency, Delayed cranial suture closure, Micrognathia, Radiouln... OMIM:619325
Stromme Syndrome
Hydrocephalus, Agenesis of corpus callosum, Retinal vascular tortuosity, Optic nerve hypoplasia OMIM:243605
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Hypertension, Hydrocephalus ORPHA:2169
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Potocki-Shaffer Syndrome
Micropenis, Wormian bones OMIM:601224
Idiopathic Pulmonary Fibrosis
Acrocyanosis, Orthodeoxia, Exertional dyspnea, Clubbing of fingers ORPHA:2032
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
2-3 toe cutaneous syndactyly, Retrognathia, Micrognathia, Narrow mouth, Down-sloping shoulders, L... OMIM:301091
Mosaic Trisomy 20
Craniofacial asymmetry, Cleft lip, Retrognathia, Clinodactyly, Micrognathia, Abnormal mitral valv... ORPHA:1724
Congenital Tracheomalacia
Recurrent upper respiratory tract infections, Intercostal retractions, Abnormal heart morphology,... ORPHA:95430
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Holoprosencephaly 14
Cleft lip, Proboscis, Anteverted nares, Ventricular septal defect, Median cleft upper lip, Double... OMIM:619895
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Polyarticular arthritis, Enlargement of the wrists, Distal femoral bow... ORPHA:289176
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Pulmonary arterial hypertension, Tachycardi... OMIM:614921
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia, Abnormal autonomic n... ORPHA:2131
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Abnormal joint morphology, Metaphyseal dysplasia, Genu varum, Thin vermilion border, Short phalan... ORPHA:99646
Hypermobile Ehlers-Danlos Syndrome
Menometrorrhagia, Epistaxis, Atypical scarring of skin, Joint dislocation, Elbow dislocation, Umb... ORPHA:285
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality of primary teeth,... OMIM:150400
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Ventriculomegaly, Congenital diaphragmatic hernia, Cryptorchidism, Hy... ORPHA:1647
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Degcags Syndrome
Hypospadias, Ventriculomegaly, Genu valgum, Cryptorchidism, Agenesis of corpus callosum, Hiatus h... OMIM:619488
Desmosterolosis
Ventriculomegaly, Joint contracture of the hand, Ambiguous genitalia, female, Ambiguous genitalia... OMIM:602398
Vacterl With Hydrocephalus
Abnormal optic nerve morphology, Inguinal hernia, Cryptorchidism, Abnormal fallopian tube morphol... ORPHA:3412
Fatal Familial Insomnia
Abnormal autonomic nervous system physiology OMIM:600072
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Encephalocele, Humeroradial synostosis, Ventricular septal defect, ... OMIM:134780
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Cerebrocostomandibular Syndrome
Posterior rib gap, Hydranencephaly, Myelomeningocele, Micrognathia, Death in infancy, Ventricular... ORPHA:1393
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Concave nasal ridge OMIM:245590
Cockayne Syndrome B
Carious teeth, Dental malocclusion, Progeroid facial appearance, Square pelvis bone, Hypoplastic ... OMIM:133540
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea, Hypoxemia ORPHA:140896
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure ORPHA:90033
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Bifid uvula, Hypoplastic left heart, Spinal dysraphism, Mitral stenosis, S... OMIM:617660
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Bifid scrotum, Cryptorchidism, Agenesis of corpus callosum, Pulmonic stenosis, ... OMIM:257300
Curry-Jones Syndrome
Ventriculomegaly, Unicoronal synostosis, Bicoronal synostosis, Agenesis of corpus callosum, Wormi... OMIM:601707
Melkersson-Rosenthal Syndrome
Facial palsy, Abnormal autonomic nervous system physiology ORPHA:2483
Thoracoabdominal Syndrome
Cleft upper lip, Transposition of the great arteries, Ectopia cordis, Anencephaly, Cleft palate OMIM:313850
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma... OMIM:204690
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Optic disc coloboma, Chorioretinal coloboma, Portal hypertension, Inguin... ORPHA:1454
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Hydrocephalus, Chorioretinal coloboma, Agenesis of corpus callosum ORPHA:268249
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Ventricular septal defect, Tachypnea, Atri... OMIM:610978
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Short humerus, Neonatal death, Hand polydactyly, Tracheoesophageal... OMIM:314390
Ramon Syndrome
Delayed eruption of teeth, Angiokeratoma, Telangiectasia, Juvenile rheumatoid arthritis, Narrow p... OMIM:266270
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Cardiomyopathy ORPHA:79312
Hardikar Syndrome
Unilateral cleft lip, Umbilical hernia, Intestinal malrotation, Cleft soft palate, Patent foramen... OMIM:301068
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal rib morphology, Respiratory distress, Broad ribs, Short ribs, Ventricular septal defect,... ORPHA:2519
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Dyspnea OMIM:267450
Fucosidosis
Cardiomegaly, Abnormality of the dentition, Acrocyanosis, Vascular skin abnormality ORPHA:349
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis ORPHA:99825
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Volvulus, Duodenal stenosis, Respiratory distress,... ORPHA:210122
Lead Poisoning
Decreased male libido, Abnormality of the menstrual cycle, Infertility, Abnormality of the autono... ORPHA:330015
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Ventriculomegaly, Retinal coloboma, Occipital meningocele, Congenital diaphragmatic hernia, Hydro... OMIM:616546
Shwachman-Diamond Syndrome
Metaphyseal irregularity, Carious teeth, Delayed eruption of teeth, Proximal femoral epiphysiolys... ORPHA:811
Congenital Diaphragmatic Hernia
Respiratory distress, Intestinal malrotation, Hypoxemia ORPHA:2140
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Proximal femoral epiphysiolysis, Respiratory distress, Metaphyseal sclerosis... OMIM:260400
Craniofacial Microsomia 1
Hypoplasia of the maxilla, Block vertebrae, Occipital encephalocele, Cleft upper lip, Cervical ri... OMIM:164210
Primary Dystonia, Dyt4 Type
Respiratory distress, Open mouth ORPHA:98805
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Ventriculomegaly, Cardiomyopathy, Agenesis of corpus callosum, Arrhythmia, Hydrocephalus, Heart b... ORPHA:228308
Medulloblastoma
Cerebellar hemorrhage, Abnormal cranial nerve morphology, Hydrocephalus, Delayed cranial suture c... ORPHA:616
Tetrasomy 9P
Hypoplastic scapulae, Small hand, Micrognathia, Abnormal mitral valve morphology, Dextrocardia, J... ORPHA:3310
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Classical Ehlers-Danlos Syndrome
Hip dislocation, Poor wound healing, Bruising susceptibility, Abnormality of the temporomandibula... ORPHA:287
Knobloch Syndrome
Macular degeneration, Occipital encephalocele, Vitreoretinopathy, Abnormal vitreous humor morphol... ORPHA:1571
Isolated Atp Synthase Deficiency
Respiratory distress, Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:254913
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Arrhythmia, Ventricular tachycardia, Cardiomyopathy ORPHA:159
Mucopolysaccharidosis Type 2
Optic atrophy, Hip osteoarthritis, Contractures of the large joints, Cardiomyopathy, Umbilical he... ORPHA:580
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Prominent scalp veins, Narrow mouth, Reduced subcutaneous adipose tissue, Synovitis,... ORPHA:3455
Keppen-Lubinsky Syndrome
Progeroid facial appearance, Underdeveloped nasal alae, Narrow naris, Premature skin wrinkling, N... ORPHA:435628
Axenfeld-Rieger Syndrome, Type 1
Wide nasal bridge, Anal stenosis, Hypoplasia of the maxilla, Microdontia, Thin upper lip vermilio... OMIM:180500
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Immotile cilia, Communicating hydrocephalus, Male infertility, Ciliary ... OMIM:244400
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Monosomy 18Q
Aortic valve stenosis, Congestive heart failure, Bilateral cryptorchidism, Mitral regurgitation, ... ORPHA:1600
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Distal Triplication 15Q
Abnormal external genitalia, Hernia, Hydrocephalus, Camptodactyly, Craniosynostosis, Flexion cont... ORPHA:314588
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul... OMIM:613426
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Tooth malposition, Long hallux, Genu valgum, Open mouth, Arachnodactyly, B... ORPHA:261537
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Amelogenesis imperfecta, Hydrocephalus ORPHA:1946
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress OMIM:620375
Carnitine Palmitoyltransferase Ii Deficiency
Arrhythmia, Hydrocephalus, Cardiomyopathy, Agenesis of corpus callosum ORPHA:157
X-Linked Intellectual Disability, Armfield Type
Depressed nasal bridge, Mandibular prognathia, Small hand, Downturned corners of mouth, Micrognat... ORPHA:85276
Acute Lung Injury
Respiratory distress, Tachypnea, Dyspnea, Hypoxemia ORPHA:178320
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Delayed cranial suture closure, Persistence of primary teeth, Stenosis of the medu... ORPHA:93325
Congenital Laryngeal Web
Respiratory distress, Abnormal cardiac septum morphology ORPHA:2374
Lambert-Eaton Myasthenic Syndrome
Orthostatic hypotension due to autonomic dysfunction, Impotence, Abnormal autonomic nervous syste... ORPHA:43393
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Camptodactyly of finger, Bicoronal synostosis, Cryptorchidism, Hydrocephalus, Micropenis OMIM:619951
Bloom Syndrome
Facial telangiectasia in butterfly midface distribution, Recurrent upper respiratory tract infect... OMIM:210900
Pseudohypoparathyroidism Type 1A
Broad 1st metacarpal, Depressed nasal bridge, Broad distal phalanx of the thumb, Short fifth meta... ORPHA:79443
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Respiratory distress, Hypertrophic cardiomyopathy, Muscular ventricular ... OMIM:115197
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Knee contracture, Hip contracture, Achilles tendon contracture, Bradycar... OMIM:620351
Holoprosencephaly 3
Bifid uvula, Depressed nasal bridge, Cleft lip, Abnormality of the nose, Proboscis, Single naris,... OMIM:142945
Mucopolysaccharidosis Type 3
Optic atrophy, Atrioventricular block, Pigmentary retinopathy, Ventriculomegaly, Umbilical hernia... ORPHA:581
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval ORPHA:90647
Recurrent Respiratory Papillomatosis
Respiratory distress, Tachypnea, Dyspnea, Recurrent upper respiratory tract infections ORPHA:60032
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Epistaxis, Cyanosis, Telangiectasia, Clubbing, Dyspnea, Hypoxemia ORPHA:2038
Achondroplasia
Hip joint hypermobility, Limited elbow extension, Knee joint hypermobility, Hydrocephalus, Flat a... ORPHA:15
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Hematemesis, Internal he... ORPHA:340
Radial Aplasia, X-Linked
Penile hypospadias, Hydrocephalus OMIM:312190
Primary Hyperoxaluria
Abnormality of the dentition, Abnormal dental pulp morphology, Cardiomyopathy, Cutis marmorata, A... ORPHA:416
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Generalized abnormality of skin, Respiratory distress, Abnormal cardiomyo... ORPHA:367
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Hydrocephalus ORPHA:2180
Mowat-Wilson Syndrome
Aortic valve stenosis, Tooth malposition, Genu valgum, Open mouth, Bicuspid aortic valve, Promine... ORPHA:2152
Diabetic Embryopathy
Spinal dysraphism, Abnormal morphology of female internal genitalia, Cryptorchidism, Hydrocephalu... ORPHA:1926
Atrial Septal Defect, Ostium Primum Type
Clubbing of toes, Cyanosis, Left atrial enlargement, Tachypnea, Left ventricular hypertrophy, Exe... ORPHA:99106
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Cutis Laxa, Autosomal Recessive, Type Iiia
Congenital hip dislocation, Umbilical hernia, Large fontanelles, Inguinal hernia, Cryptorchidism,... OMIM:219150
Alkuraya-Kucinskas Syndrome
Small scrotum, Ventriculomegaly, Micropenis, Hydrocephalus, Camptodactyly, Arthrogryposis multipl... OMIM:617822
Avian Influenza
Respiratory distress, Tachypnea, Dyspnea, Hypoxemia, Miscarriage ORPHA:454836
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Abnormal sacroiliac joint morphology, Hydrocephalus, Wide anterior fontanel ORPHA:1860
Jacobsen Syndrome
Optic atrophy, Chorioretinal coloboma, Cryptorchidism, Macular hypoplasia, Hydrocephalus, Labial ... OMIM:147791
Sifrim-Hitz-Weiss Syndrome
Ventriculomegaly, Cryptorchidism, Wormian bones, Hypogonadotropic hypogonadism, Ambiguous genital... OMIM:617159
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Pigmentary retinopathy, Dilated cardiomyopathy, Pulmonary embolism, Subdural hemor... ORPHA:79282
Aase-Smith Syndrome I
Flexion contracture, Hydrocephalus, Dandy-Walker malformation OMIM:147800
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypogonadotropic hypogonadism, Intracranial hemorrhage, Optic nerve compression, Hydrocephalus ORPHA:91350
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Ventriculomegaly, Aplasia/hypoplasia of the uterus, Congenital diaphragmat... ORPHA:96121
Pulmonary Capillary Hemangiomatosis
Cyanosis, Exertional dyspnea, Dyspnea, Pericardial effusion, Hypoxemia, Clubbing of fingers ORPHA:199241
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Ventriculomegaly, Dilated third ventricle, Hypogonadism, Cryptorchidism, Hydrocephalus, Micropeni... ORPHA:500055
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Wide nasal bridge, Bifid uvula, Broad nasal tip, Dermatographic urticaria, Atrioventricular canal... OMIM:619480
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Genu valgum, Smooth philt... OMIM:619321
Pulmonary Alveolar Proteinosis, Acquired
Dyspnea, Hypoxemia, Cyanosis, Clubbing OMIM:610910
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Cholera
Tachycardia, Hypotension, Hypovolemic shock ORPHA:173
Incontinentia Pigmenti
Erythema, Conical tooth, Delayed eruption of teeth, Oligodontia, Supernumerary ribs, Hypodontia OMIM:308300
Renal Agenesis, Bilateral
Depressed nasal ridge, Sirenomelia, Abnormal intestine morphology, Tracheoesophageal fistula, Non... ORPHA:1848
Enamel-Renal Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... ORPHA:1031
Axial Mesodermal Dysplasia Spectrum
Abnormal morphology of female internal genitalia, Congenital diaphragmatic hernia, Hydrocephalus,... ORPHA:1834
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Toe syndactyly, Intestinal malrotation, Dextrotransposi... OMIM:619657
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Optic atrophy, Ventriculomegaly, Hydrocephalus ORPHA:395
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Tooth malposition, Long hallux, Genu valgum, Open mouth, Ventricular septa... ORPHA:261552
Lateral Meningocele Syndrome
Keloids, Umbilical hernia, Inguinal hernia, Cryptorchidism, Wormian bones, Hydrocephalus, Vertebr... OMIM:130720
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Aymé-Gripp Syndrome
Ventriculomegaly, Delayed cranial suture closure, Large fontanelles, Prominent metopic ridge, Con... ORPHA:1272
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Decreased heart rate variability, Abnormal autonomic nervous system physio... OMIM:209880
Chromosome 16Q22 Deletion Syndrome
Cryptorchidism, Wormian bones, Hypospadias, Wide anterior fontanel, Prominent metopic ridge OMIM:614541
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Elbow flexion contracture, Ventricular escape rhy... ORPHA:98855
Primrose Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Short dist... OMIM:259050
Slc35A1-Cdg
Respiratory distress, Subcutaneous hemorrhage, Hypoxemia ORPHA:238459
Microphthalmia, Syndromic 1
High, narrow palate, Tooth malposition, Joint contracture of the hand, Dental crowding, Clinodact... OMIM:309800
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Optic atrophy, Retinopathy ORPHA:220295
Farber Disease
Recurrent upper respiratory tract infections, Short toe, Short finger, Respiratory distress, Abno... ORPHA:333
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Brain-Lung-Thyroid Syndrome
Respiratory distress, Patent foramen ovale, Ventricular septal defect, Hypodontia, Atrial septal ... ORPHA:209905
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:98853
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Overlapping toe, Cyanosis, Death in infancy, Truncus arteriosus, Ventricular... OMIM:617478
Cryptococcosis
Abnormal optic nerve morphology, Abnormal cranial nerve morphology, Prostatitis, Hydrocephalus, A... ORPHA:1546
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Hypotension, Syncope ORPHA:98849
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Ventriculomegaly, Aganglionic megacolon, Intraventricular hemorrhage, Hydrocephalus, Hydrocele te... OMIM:613603
Tick-Borne Encephalitis
Abnormal cranial nerve morphology, Abnormal glossopharyngeal nerve morphology, Abnormal autonomic... ORPHA:297
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Ventriculomegaly, Hydrocephalus, Optic disc pallor, Hip subluxation, Facial palsy OMIM:259720
Necrotizing Enterocolitis
Abnormal heart morphology, Apnea, Cyanosis ORPHA:391673
Familial Thyroid Dyshormonogenesis
Umbilical hernia, Delayed cranial suture closure, Large posterior fontanelle, Bradycardia ORPHA:95716
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Widely spaced teeth, Gingival overgrowth, Alveolar ridge overgrowth, M... OMIM:301072
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Large fontanelles, Wormian bones, Pulmonary arterial hypertension, Flat acetabular roof, Hyperten... OMIM:613320
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Tachypnea, Clubbing, Dyspnea, Hypoxemia OMIM:610913
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Tachypnea, Dyspnea, Hypoxemia ORPHA:36238
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Spina bifida occulta, Arrhythmia, Paroxysmal supraventricular tachycardia OMIM:617877
Noonan Syndrome With Multiple Lentigines
Wide nasal bridge, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Abnormal pulmonary... ORPHA:500
Cardiac Diverticulum
Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Umbilical hernia, Palpitations, Mi... ORPHA:1686
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Mirage Syndrome
Microphallus, Decreased testicular size, Cryptorchidism, Hydrocephalus, Shawl scrotum, Intracrani... OMIM:617053
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Dyspnea, Pericardial effusion ORPHA:411703
Dextrocardia
Congenital hip dislocation, Abnormal EKG, Abnormal reproductive system morphology, T-wave inversi... ORPHA:1666
Grant Syndrome
Wormian bones, Joint dislocation, Large fontanelles ORPHA:2097
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Spermatogenic Failure 28
Non-obstructive azoospermia, Male infertility, Decreased testicular size OMIM:618086
Laryngotracheoesophageal Cleft
Dyspnea, Cyanosis ORPHA:2004
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Erythema, Colonic diverticula, Recurrent upper respiratory tract infections, Persistence of prima... OMIM:147060
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Wormian bones, Abnormality of the ankle ORPHA:970
Developmental And Epileptic Encephalopathy 111
Sinus tachycardia, Umbilical hernia, Inguinal hernia, Cryptorchidism, Premature ventricular contr... OMIM:620504
Orofaciodigital Syndrome Type 14
Microretrognathia, Postaxial foot polydactyly, Broad hallux, Hamartoma of tongue, Bulbous nose, A... ORPHA:434179
Familial Adenomatous Polyposis 1
Carious teeth, Eruption failure, Duodenal adenocarcinoma, Duodenal polyposis, Multiple gastric po... OMIM:175100
Scalp-Ear-Nipple Syndrome
Lateral ventricle dilatation, Congestive heart failure, Supraventricular tachycardia, Multiple li... OMIM:181270
Gitelman Syndrome
Hypotension, Chondrocalcinosis, Palpitations, Ventricular tachycardia, Prolonged QT interval OMIM:263800
X-Linked Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Elbow flexion con... ORPHA:98863
Nmda Receptor Encephalitis
Testicular teratoma, Ovarian teratoma, Orthostatic tachycardia, Orthostatic hypotension, Abnormal... ORPHA:217253
Marfan Syndrome
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Inguinal hernia, Limited el... ORPHA:558
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Arachnoid Cyst
Enlarged fossa interpeduncularis, Cranial nerve compression, Encephalocele, Subarachnoid hemorrha... ORPHA:2356
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Limb Body Wall Complex
Cutaneous finger syndactyly, Encephalocele, Aplasia/hypoplasia involving bones of the upper limbs... ORPHA:2369
Aneurysm-Osteoarthritis Syndrome
Bifid uvula, Dental malocclusion, Retrognathia, Bruising susceptibility, Umbilical hernia, Abnorm... ORPHA:284984
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Downturned corners of mouth, Bulbous ... ORPHA:466943
Hereditary Bullous Dystrophy, Macular Type
Abnormal heart morphology, Tapered finger, Acrocyanosis, Short finger ORPHA:1867
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Hypertrophic cardiomyopathy, Apnea, Patent foramen ovale, Polydactyly, Shor... ORPHA:17
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Ventriculomegaly, Joint dislocation, Delayed cranial suture closure, Tricus... OMIM:601776
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal autonomic nervous system physiology OMIM:616840
Joubert Syndrome
Aganglionic megacolon, Encephalocele, Hydrocephalus ORPHA:475
Proboscis Lateralis
Abnormality of the maxillary sinus, Choanal atresia, Abnormal facial skeleton morphology, Long ph... ORPHA:141099
Osteopetrosis With Renal Tubular Acidosis
Tooth malposition, Abnormality of the dentition, Retrognathia, Thick lower lip vermilion, Persist... ORPHA:2785
Anaplastic Thyroid Carcinoma
Respiratory distress, Tracheoesophageal fistula, Dyspnea ORPHA:142
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Stippled calcification in carpal bones, Cyanosis, Tachypnea, Mit... ORPHA:60025
Aortic Arch Interruption
Respiratory distress, Abnormal heart morphology, Cyanosis, Ventricular septal defect, Truncus art... ORPHA:2299
Bosma Arhinia Microphthalmia Syndrome
Choanal atresia, Anosmia, Cleft lip, Dental malocclusion, Paranasal sinus hypoplasia, High palate... OMIM:603457
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Genu valgum, Cyanosis ORPHA:488627
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Multiple joint dislocation, Knee dislocation, Elbow flexion contracture, Bilateral elbow dislocat... OMIM:245600
Choreoacanthocytosis
Dilated cardiomyopathy, Lateral ventricle dilatation, Decreased amplitude of sensory action poten... ORPHA:2388
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Autoimmune Pulmonary Alveolar Proteinosis
Dyspnea, Hypoxemia, Cyanosis, Clubbing ORPHA:747
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension ORPHA:139411
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal oral mucosa morphology, Abnormal fingertip morphology, Dilated cardiomyopathy, Respirato... ORPHA:79404
Spinal Cord Injury
Abnormal autonomic nervous system physiology ORPHA:90058
Aicardi-Goutieres Syndrome 1
Erythema, Cardiomyopathy, Petechiae, Multiple gastric polyps, Prolonged neonatal jaundice, Acrocy... OMIM:225750
Intellectual Developmental Disorder, Autosomal Dominant 54
Dental crowding, Widely spaced teeth, Apnea, Delayed eruption of primary teeth, Hyperventilation OMIM:617799
Osteogenesis Imperfecta, Type V
Wormian bones, Anterior radial head dislocation, Limited pronation/supination of forearm, Dentino... OMIM:610967
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Orchitis, Internal hemorrhage, Ar... ORPHA:99826
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Spina bifida, Spina bifida occulta, Posterolateral diaphragmatic... ORPHA:2437
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Inflammation of the large intestine, Carious teeth, Periodontitis, Bruising susceptibi... ORPHA:79259
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Agenesis of corpus callosum, Cervical C2/C3 vertebral fusion, Co... ORPHA:1780
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Acute Intermittent Porphyria
Tachycardia, Hypertension ORPHA:79276
Trisomy 8P
Multiple joint contractures, Cryptorchidism, Metopic suture patent to nasal root, Hernia, Agenesi... ORPHA:264450
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Eosinophilic Fasciitis
Acrocyanosis, Arthritis ORPHA:3165
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Tetrasomy 15Q26
Camptodactyly, Hydrocephalus, Dandy-Walker malformation OMIM:614846
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Talipes valgus, Narrow nose, Submucous cleft hard palate, Ankle clonus, Atrial septal defect OMIM:618891
Spermatogenic Failure 14
Azoospermia, Male infertility, Round spermatid arrest OMIM:615842
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Cyanosis, Transposi... ORPHA:1461
Parkinson Disease, Late-Onset
Abnormal autonomic nervous system physiology OMIM:168600
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Smith-Lemli-Opitz Syndrome
Small scrotum, Cryptorchidism, Ventricular fibrillation, Holoprosencephaly, Hypospadias, Hip disl... OMIM:270400
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Large posterior fontanelle, Delayed cranial suture closure, Umbilical hernia, Agenesis of corpus ... ORPHA:226307
Mowat-Wilson Syndrome
Wide nasal bridge, Tooth malposition, Abnormal enteric ganglion morphology, Delayed eruption of t... OMIM:235730
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Ocular albinism ORPHA:2720
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Encephalocele, Hydrocephalus, Camptodactyly, Advanced ossification... OMIM:224400
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Optic atrophy, Ventriculomegaly, Joint dislocation, Cardiomyopathy, Cryptorch... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Optic atrophy, Ventriculomegaly, Joint dislocation, Cardiomyopathy, Cryptorch... ORPHA:363958
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Abnormal heart morphology, Cyanosis, Patent foramen ovale, Truncus arteriosu... ORPHA:980
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Rod-cone dystrophy, Cardiomyopathy OMIM:616084
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Baraitser-Winter Cerebrofrontofacial Syndrome
Optic disc coloboma, Delayed cranial suture closure, Transient ischemic attack, Large fontanelles... ORPHA:2995
Lymphangioleiomyomatosis
Optic atrophy, Gastrointestinal hemorrhage, Abnormal morphology of female internal genitalia, Hyd... ORPHA:538
Imerslund-Gräsbeck Syndrome
Tachycardia ORPHA:35858
Mandibuloacral Dysplasia
Increased subcutaneous truncal adipose tissue, Contractures of the large joints, Increased adipos... ORPHA:2457
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Depressed nasal bridge, Recurrent upper respiratory tract infections, Central hypoventilation, An... ORPHA:293987
Lessel-Kreienkamp Syndrome
Wide cranial sutures, Pulmonic stenosis OMIM:619149
Mend Syndrome
Aortic valve stenosis, Small anterior fontanelle, Cryptorchidism, Macular hypoplasia, Hydrocephal... OMIM:300960
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia ORPHA:70588
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Eisenmenger Syndrome
Right ventricular failure, Right-to-left shunt, Tricuspid regurgitation, Palpitations, Supraventr... ORPHA:97214
Tsh-Secreting Pituitary Adenoma
Irregular menstruation, Hypotension, Male hypogonadism, Impotence, Congestive heart failure, Abno... ORPHA:91347
Steinert Myotonic Dystrophy
Male hypogonadism, Dilated cardiomyopathy, Impotence, Left ventricular systolic dysfunction, Prol... ORPHA:273
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Neuroocular Syndrome 1
Genu recurvatum, Short uvula, Downturned corners of mouth, Retrognathia, Widely spaced teeth, Umb... OMIM:619539
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Nasolacrimal Duct Cyst
Intercostal retractions, Paroxysmal dyspnea, Nasal congestion, Episodic respiratory distress, Dev... ORPHA:141083
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress OMIM:620166
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o... OMIM:212093
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Ankle swelling, Angioedema, Swelling of proximal interphalangeal joints, ... ORPHA:3260
1Q21.1 Microdeletion Syndrome
Inguinal hernia, Hydrocephalus, Cryptorchidism, Agenesis of corpus callosum ORPHA:250989
Stt3B-Cdg
Respiratory distress ORPHA:370924
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis OMIM:610773
Parkinsonian-Pyramidal Syndrome
Abnormal autonomic nervous system physiology ORPHA:171695
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed cranial suture closure, Generalized lipodystrophy, Decreased adipose tissue around neck, ... OMIM:608612
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Hematochezia, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Isolated Exencephaly
Depressed nasal bridge, Hypoplasia of the frontal bone, Abnormal facial skeleton morphology ORPHA:563612
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Congenital hip dislocation, Dislocation of the femoral head, Genu valgum, Telangiectasia of the s... OMIM:616007
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Ventricular arrhythmia, Umbilical hernia, Prominent metopic ridge OMIM:620475
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Limited elbow movement, Wide ... OMIM:614008
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Optic disc pallor, Flexion contracture, Wormian bones OMIM:300232
Gardner Syndrome
Abnormality of the dentition, Esophageal carcinoma, Duodenal polyposis, Multiple gastric polyps, ... ORPHA:79665
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Elbow flexion contracture, Knee flexion contracture, Ankle clonus, Hydrocephalu... OMIM:613776
Arachnoiditis
Hydrocephalus ORPHA:137817
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones, Dentinogenesis imperfecta ORPHA:166277
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Myelomeningocele, Spina bifida occulta, Hydrocephalus, Vertebral fusion OMIM:613686
Fanconi Anemia
Ventriculomegaly, Abnormality of the uterus, Umbilical hernia, Hypertrophic cardiomyopathy, Hypog... ORPHA:84
Full Nf2-Related Schwannomatosis
Myelopathy, Abnormal optic nerve morphology, Bilateral vestibular schwannoma, Epiretinal membrane... ORPHA:637
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Bruck Syndrome 2
Pterygium, Elbow flexion contracture, Inguinal hernia, Knee flexion contracture, Wormian bones, F... OMIM:609220
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Encephalocele, Pulmonary arterial hypertension,... ORPHA:974
Meckel Syndrome
Optic atrophy, Abnormal chorioretinal morphology, Encephalocele, Cryptorchidism, True hermaphrodi... ORPHA:564
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation OMIM:612956
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypopnea, Respiratory distress, Apnea, Cyanosis, Death in childhood, Death in infancy OMIM:618426
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Exertional dyspnea, Unroofed coronary sinus, Dyspnea, Right atrial enlargement, Right v... ORPHA:99104
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Umbilical hernia, Genu valgum, Acetabular dysplasia, Hydrocephalus, Flexion contr... OMIM:253220
Malignant Hyperthermia Of Anesthesia
Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, High-ou... ORPHA:423
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Duodenal atresia, Intestinal malrotation, Situs inversus totalis, Partial atrioventricular canal ... OMIM:619608
Holoprosencephaly 1
Tessier cleft, Proboscis, Median cleft palate, Median cleft upper lip, Single ventricle, Aplasia ... OMIM:236100
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Pigmentary retinopathy, External genital hypoplasia, Rod-cone dystrophy OMIM:600151
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Ma... ORPHA:308552
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Ankle flexion contracture, Camptodactyly of finger, Contracture of the distal interphalangeal joi... OMIM:617072
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Wormian bones OMIM:259410
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telang... OMIM:187300
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Familial Adenomatous Polyposis
Abnormal cementum morphology, Abnormality of the dentition, Eruption failure, Stomach cancer, Duo... ORPHA:733
Cousin Syndrome
Joint contracture of the hand, Hydranencephaly, Ambiguous genitalia, female, Dislocation of the f... OMIM:260660
Osteogenesis Imperfecta, Type Ii
Wormian bones, Pulmonary insufficiency, Large fontanelles, Congestive heart failure OMIM:166210
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, High palate, Hypercapnia OMIM:164310
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Ambiguous genitalia, Cryptorchidism ORPHA:1237
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Craniosynostosis, Wide anterior fontanel OMIM:601853
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Absent knee epiphyses, Shoulder flexion contracture, Lateral ventricle dilatation, Elbow dislocat... OMIM:210710
ERI1-related disease
Tricuspid regurgitation, Limited elbow extension, Inguinal hernia, Wormian bones, Pulmonary arter... OMIM:608739
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate, Bruising susceptibility, Umbilical hernia OMIM:614557
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Meconium ileus, Knee flexion contracture OMIM:617239
Hydrocephaly-Low Insertion Umbilicus Syndrome
Hernia of the abdominal wall, Communicating hydrocephalus ORPHA:2184
Congenital Tracheal Stenosis
Hypoplastic left heart, Meckel diverticulum, Duodenal stenosis, Respiratory distress, Abnormal st... ORPHA:141127
Infantile Krabbe Disease
Respiratory distress, Ankle clonus ORPHA:206436
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus ORPHA:163966
Spermatogenic Failure 13
Azoospermia, Male infertility OMIM:615841
22Q11.2 Deletion Syndrome
Hypertensive crisis, Gastrointestinal hemorrhage, Optic atrophy, Multiple suture craniosynostosis... ORPHA:567
Osteogenesis Imperfecta, Type Ix
Wormian bones, Dentinogenesis imperfecta OMIM:259440
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Talipes valgus, Umbilical hernia, Genu valgum, Mitral regurgitation, Optic ... ORPHA:309282
Mitochondrial Complex I Deficiency, Nuclear Type 1
Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Apnea, Cyanosis, Death in in... OMIM:252010
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm... ORPHA:90797
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cardiomyopathy OMIM:251000
Congenital Enterovirus Infection
Respiratory distress, Pericardial effusion, Cardiomyopathy, Myocarditis ORPHA:292
Scimitar Syndrome
Hypoplastic left heart, Respiratory distress, Abnormal heart morphology, Tetralogy of Fallot, Mit... ORPHA:185
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Craniosynostosis, Communicating hydrocephalus ORPHA:1064
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Protrusio acetabuli, Wormian bones, Pulmonary arterial hypertension, W... OMIM:259420
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Delayed cranial suture closure, Hernia, Wormian bones, Hip dislocation OMIM:616603
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Choroid plexus cyst, Hydrocephalus OMIM:617866
Distal 22Q11.2 Microduplication Syndrome
Optic disc coloboma, Camptodactyly of finger, Tricuspid regurgitation, Cryptorchidism, Camptodact... ORPHA:261337
Thyroid Lymphoma
Respiratory distress, Dyspnea ORPHA:97285
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Ventriculomegaly, Hypoplasia of the retina, Retinal degeneration, Retinal atrophy,... OMIM:253280
Neurofibromatosis Type 1
Precocious puberty, Chorioretinal coloboma, Genu valgum, Abnormality of retinal pigmentation, Cry... ORPHA:636
Meningioma
Hypogonadotropic hypogonadism, Amenorrhea, Papilledema, Syncope, Hydrocephalus, Cerebral hemorrha... ORPHA:2495
Thanatophoric Dysplasia, Type I
Hydrocephalus OMIM:187600
Ulna Hypoplasia-Intellectual Disability Syndrome
Large fontanelles, Elbow dislocation, Delayed cranial suture closure ORPHA:2249
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Hypospadias, Male hypogonadism, Precocious puberty in females, Bifid scro... ORPHA:90793
Japanese Encephalitis
Genu recurvatum, Abnormal pattern of respiration, Respiratory distress, Elbow flexion contracture... ORPHA:79139
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... OMIM:600376
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea OMIM:237310
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Death in adolescence, Prolonged neonatal jaundice, Jaundice OMIM:615512
White-Sutton Syndrome
Wormian bones, Congenital diaphragmatic hernia, Rod-cone dystrophy, Optic nerve hypoplasia OMIM:616364
1P36 Deletion Syndrome
Optic atrophy, Ventriculomegaly, Dilated cardiomyopathy, Ocular albinism, Delayed cranial suture ... ORPHA:1606
Congenital Disorder Of Deglycosylation 1
Small hand, Respiratory distress, Anteverted nares, Open mouth, Short foot OMIM:615273
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Congestive heart failure, Hypogonadism, Oligozoospermia, Abnormal te... ORPHA:85450
Cockayne Syndrome
Carious teeth, Dental malocclusion, Abnormal epiphysis morphology, Premature skin wrinkling, Agen... ORPHA:191
Myasthenia Gravis
Dyspnea, Rheumatoid arthritis, Acrocyanosis ORPHA:589
Rh Deficiency Syndrome
Tachycardia ORPHA:71275
Microcephalic osteodysplastic primordial dwarfism, type III
Optic atrophy, Chorioretinal coloboma, Delayed cranial suture closure, Dislocation of the femoral... OMIM:210730
Laurin-Sandrow Syndrome
Tarsal synostosis, Cryptorchidism, Hydrocephalus, Abnormality of the wrist ORPHA:2378
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Abnormal vagina morphology, Streak ovary, Abnormal labia morphology, Abnorm... ORPHA:251510
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Neurooculorenal Syndrome
Ventriculomegaly, Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis... OMIM:620305
Cardiogenic Shock
Dyspnea, Cyanosis, Orthopnea, Hypoxemia ORPHA:97292
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval ORPHA:36913
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block, Facial palsy OMIM:610131
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Broad thumb, Ventricular septal defect, Broad first met... OMIM:619534
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Dilated cardiomyopathy, Biventricular hypertrophy, Atrioventricular canal def... OMIM:619573
Bardet-Biedl Syndrome 1
Hypogonadism, Decreased testicular size, Hyperautofluorescent macular lesion, Attenuation of reti... OMIM:209900
Plasminogen Deficiency, Type I
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:217090
Lujo Hemorrhagic Fever
Respiratory distress, Ecchymosis, Myocarditis, Rhinitis, Purpura ORPHA:319213
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Ventriculomegaly, Congestive heart failure, Tricuspid regurgitation, Mitral... OMIM:620066
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Gracile Bone Dysplasia
Micropenis, Hydrocephalus OMIM:602361
Sarcoidosis
Increased CSF protein concentration, Portal hypertension, Joint swelling, Abnormal reproductive s... ORPHA:797
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telangiectasia, Spontaneous, re... OMIM:610655
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Congenital hip dislocation, Cubitus valgus, Hydrocephalus, Umbilical hernia OMIM:104350
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ventriculomegaly, Azoospermia, Spontaneous, recurrent epistaxis, Papilledema, Pulmonary arterial ... ORPHA:2072
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Congestive heart failure, Cerebral ischemia, High-output congestive heart failure, Tel... ORPHA:137667
Osteogenesis Imperfecta, Type Xxii
Wormian bones, Dentinogenesis imperfecta OMIM:619795
Grant Syndrome
Wormian bones OMIM:138930
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Cardiomegaly, Short tibia, Short femur OMIM:620306
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Wide anterior fontanel OMIM:601356
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Agenesis of corpus callosum, Hydrocephalus, Micropenis, Hypergonadotropic hypogon... OMIM:227646
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Ex... ORPHA:365
Lateral Meningocele Syndrome
Umbilical hernia, Inguinal hernia, Cryptorchidism, Wormian bones, Meningocele, Prominent metopic ... ORPHA:2789
Ventriculomegaly With Cystic Kidney Disease
Ventriculomegaly, Hydrocephalus OMIM:219730
Silver-Russell Syndrome 1
Testicular seminoma, Hypospadias, Delayed cranial suture closure OMIM:180860
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Ventriculomegaly, Large fontanelles, Delayed cranial suture ... OMIM:261515
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Tetralogy of Fallot, Cyanosis, Ventricular septal defect, Aortopulmonary ... ORPHA:99050
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Bloom Syndrome
Azoospermia, Retinopathy, Telangiectasia, Adipose tissue loss, Oligozoospermia, Premature ovarian... ORPHA:125
Leprosy
Epistaxis, Abnormal seventh cranial physiology, Testicular mass, Abnormal autonomic nervous syste... ORPHA:548
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Hajdu-Cheney Syndrome
Aortic valve stenosis, Umbilical hernia, Mitral stenosis, Inguinal hernia, Hernia, Wormian bones,... ORPHA:955
Truncus Arteriosus
Aplasia/hypoplasia involving bones of the extremities, Abnormal heart morphology, Tetralogy of Fa... ORPHA:3384
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Heart block ORPHA:1964
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed cranial suture closure, Large font... OMIM:603116
Q Fever
Respiratory distress, Abnormal heart valve morphology, Purpura, Myocarditis, Pericardial effusion... ORPHA:781
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Iniencephaly
Spinal dysraphism, Myelomeningocele, Congenital diaphragmatic hernia, Encephalocele, Anencephaly,... ORPHA:63259
Hajdu-Cheney Syndrome
Umbilical hernia, Genu valgum, Inguinal hernia, Cryptorchidism, Crowded carpal bones, Wormian bon... OMIM:102500
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Yunis-Varon Syndrome
Hypospadias, Clitoral hypertrophy, Cardiomyopathy, Cryptorchidism, Agenesis of corpus callosum, W... ORPHA:3472
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Wrist flexion contracture, Knee flexion contracture OMIM:618733
Menkes Disease
Wormian bones, Intracranial hemorrhage OMIM:309400
Spondyloepimetaphyseal Dysplasia, Krakow Type
Ulnar deviation of the wrist, Hydrocephalus, Knee flexion contracture, Elbow contracture OMIM:618162
Unilateral Polymicrogyria
Abnormal heart morphology, Epistaxis, Apnea, Cyanosis ORPHA:268943
Scalp-Ear-Nipple Syndrome
Abnormality of the dentition, Delayed eruption of teeth ORPHA:2036
Listeriosis
Respiratory distress, Miscarriage, Myocarditis, Septic arthritis, Jaundice, Endocarditis, Pericar... ORPHA:533
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Facial diplegia... ORPHA:254892
Bruck Syndrome
Pterygium, Wormian bones, Arthrogryposis multiplex congenita ORPHA:2771
Hunter-Macdonald Syndrome
Aortic regurgitation, Hypospadias, Joint contracture of the hand, Delayed cranial suture closure,... OMIM:611962
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Congenital defect of the pericardium, Umbilical hernia, Respiratory ... ORPHA:2255
Mirizzi Syndrome
Tachycardia ORPHA:521219
Cardiac Valvular Dysplasia 2
Central cyanosis, Bicuspid aortic valve, Subvalvular aortic stenosis, Dysplastic aortic valve, Pu... OMIM:620067
Costello Syndrome
Ventriculomegaly, Hypertrophic cardiomyopathy, Vestibular schwannoma, Limited elbow movement, Arr... OMIM:218040
Absent Radius-Anogenital Anomalies Syndrome
Rectovaginal fistula, Hydrocephalus, Perineal fistula ORPHA:3016
Poems Syndrome
Metaphyseal sclerosis, Plethora, Pericardial effusion, Acrocyanosis, Clubbing of fingers ORPHA:2905
Gaucher Disease
Ventriculomegaly, Joint dislocation, Abnormal macular morphology, Cherry red spot of the macula, ... ORPHA:355
Legius Syndrome
Male urethral meatus stenosis, Vestibular schwannoma, Paroxysmal atrial tachycardia, Multiple lip... ORPHA:137605
Gorlin Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Ovarian fibroma, Hydrocephalus, Vertebral fusion ORPHA:377
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Ileus, Abnormal intestine morphology, Gastritis, Colitis, Urticaria ORPHA:37042
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Umbilical hernia, Wormian bones, Limitation of knee mobility, Dislocat... OMIM:614856
Cardiac-Urogenital Syndrome
Bifid scrotum, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia of the uterus, Ambiguous ... OMIM:618280
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Delayed cranial suture closure, Elbow flexion contractu... OMIM:248370
Biotinidase Deficiency
Respiratory distress, Hyperventilation, Apnea, Myelopathy ORPHA:79241
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Paroxysmal dyspnea, At... ORPHA:99125
Icf Syndrome
Communicating hydrocephalus, Umbilical hernia ORPHA:2268
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Ventriculomegaly, Chorioretinal coloboma, Congestive heart failure, Bifid s... OMIM:619475
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Mitral atresia, Truncus arterio... OMIM:620294
Tuberous Sclerosis Complex
Chorioretinal hypopigmentation, Retinal astrocytic hamartoma, Subependymal nodules, Internal hemo... ORPHA:805
Pseudoaminopterin Syndrome
Synostosis of carpal bones, Talipes valgus, Inguinal hernia, Cryptorchidism, Limited elbow moveme... ORPHA:221120
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Respiratory distress, Abnormal hip joint morphology, Abnormality of the ... ORPHA:51608
Isotretinoin-Like Syndrome
Aortic valve stenosis, Inguinal hernia, Hydrocephalus ORPHA:2306
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Hoxha-Aliu Syndrome
Inguinal hernia, Wormian bones, Contracture of the proximal interphalangeal joint of the 4th fing... OMIM:620662
Toxic Epidermal Necrolysis
Erythema, Respiratory distress, Tracheoesophageal fistula, Abnormal myocardium morphology, Intest... ORPHA:537
Oeis Complex
Congenital hip dislocation, Myelomeningocele, Ambiguous genitalia, female, Absent scrotum, Crypto... OMIM:258040
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Female sexual dysfunction, Abnormal joint mor... ORPHA:322
Silver-Russell Syndrome
Precocious puberty, Abnormal male external genitalia morphology, Abnormal vagina morphology, Dela... ORPHA:813
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Kabuki Syndrome
Precocious puberty, Ventriculomegaly, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocepha... ORPHA:2322
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Dilated cardiomyopathy OMIM:251110
Spondylometaphyseal Dysplasia, Pagnamenta Type
Wormian bones OMIM:619638
Isolated Thyroid-Stimulating Hormone Deficiency
Large posterior fontanelle, Umbilical hernia, Delayed cranial suture closure, Bradycardia, Macroo... ORPHA:90674
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Tricuspid regurgitation, Limited elbow extension, Wormian bones, Pulmonary arterial hypertension,... OMIM:620663
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... OMIM:224700
Plague
Hypotension, Arrhythmia, Hematemesis, Arthritis, Tachycardia, Abnormality of the elbow ORPHA:707
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Hydrocephalus, Micropenis, Heart murmur, Intracranial hemorrhage, Hypospadias ORPHA:163979
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Facial paralysis, Hypopigmentation of the fundus, Retinal arteriolar tortuosity, Ischemic stroke,... OMIM:175780
Retinitis Pigmentosa
Optic atrophy, Hypogonadism, Attenuation of retinal blood vessels, Abnormality of retinal pigment... ORPHA:791
Gaucher Disease, Type Iiic
Hydrocephalus, Mitral stenosis OMIM:231005
Lymphatic Malformation 7
Respiratory distress, Pericardial effusion, Atrial septal defect OMIM:617300
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Bifid scrotum, Delayed cranial suture closure, Large fontanelles, Ence... ORPHA:2211
Neurofibromatosis, Type I
Genu valgum, Hydrocephalus, Spina bifida, Aqueductal stenosis, Hypertension OMIM:162200
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Ventriculomegaly, Hypoplastic labia minora, Metopic suture patent to nasal root, W... OMIM:269150
Lhermitte-Duclos Disease
Ovarian neoplasm, Hydrocephalus ORPHA:65285
Schwartz-Jampel Syndrome
Shoulder flexion contracture, Elbow dislocation, Umbilical hernia, Decreased testicular size, Gen... ORPHA:800
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Erythema, Respiratory distress, Prominent nose, Narrow mouth, Fragile skin OMIM:614748
Sotos Syndrome
Abnormality of the dentition, Ankle flexion contracture, Umbilical hernia, Abnormal heart morphol... ORPHA:821
Pmm2-Cdg
Mandibular prognathia, Retrognathia, Long philtrum, Respiratory distress, Hypertrophic cardiomyop... ORPHA:79318
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:256810
Heterotaxy, Visceral, 2, Autosomal
Left atrial isomerism, Intestinal malrotation, Atrioventricular canal defect, Situs inversus tota... OMIM:605376
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Cutis marmorata, Cardiomegaly, Convex nasal ridge, Arthritis, Prolon... ORPHA:51
Alg9-Cdg
Delayed cranial suture closure, Tricuspid regurgitation, Hypoplasia of the ovary, Lipodystrophy, ... ORPHA:79328
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Trisomy 10P
Abnormal auditory evoked potentials, Abnormal hip joint morphology, Wide cranial sutures, Camptod... ORPHA:171929
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Sacral lipoma, Dermal sinus tract OMIM:600145
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Autosomal Recessive Kenny-Caffey Syndrome
Delayed cranial suture closure ORPHA:93324
Fraser Syndrome 3
Small scrotum, Hypoplasia of penis, Hydrocephalus OMIM:617667
Neuroblastoma
Respiratory distress ORPHA:635
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Hydrocephalus, Dandy-Walker malform... ORPHA:722
Kabuki Syndrome 1
Congenital hip dislocation, Joint dislocation, Lateral ventricle dilatation, Anoperineal fistula,... OMIM:147920
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Apnea, Episodic respiratory distress, Dyspne... ORPHA:255210
Dermatomyositis
Erythema, Chondrocalcinosis, Shawl sign, V-sign, Gastrointestinal stroma tumor, Facial erythema, ... ORPHA:221
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Jaundice, Death in infancy OMIM:617156
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Intestinal malrotation, Atrioventricular canal defect, D... OMIM:270100
Osteogenesis Imperfecta, Type Xi
Wormian bones, Dentinogenesis imperfecta, Protrusio acetabuli OMIM:610968
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Delayed cranial suture closure ORPHA:1129
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Wormian bones, Joint subluxation, Atrophic scars, Hip dislocation OMIM:617821
Osteogenesis Imperfecta, Type Xviii
Wormian bones, Umbilical hernia OMIM:617952
Colchicine Poisoning
Respiratory distress, Myocarditis ORPHA:31824
Fetal Akinesia Deformation Sequence 1
Congenital contracture, Camptodactyly of finger, Elbow contracture, Cryptorchidism, Hip contractu... OMIM:208150
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Xerostomia, Oral synechia, Generalized abnormality of skin, Respiratory distress, Oral mucosal bl... ORPHA:95455
Postinfectious Vasculitis
Bacterial endocarditis, Palpable purpura, Cardiomyopathy, Cutis marmorata, Arthritis, Vasculitis ... ORPHA:48435
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus, Hydrocephalus OMIM:614083
Townes-Brocks Syndrome 1
Rectovaginal fistula, Chorioretinal coloboma, Umbilical hernia, Bifid scrotum, Cryptorchidism, Hy... OMIM:107480
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hypogonadism, Hip contracture, Hydrocephalus, Flexion contracture ORPHA:3042
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Micropenis, Ventriculomegaly, Communicating hydrocephalus, Metopic synostosis ORPHA:457359
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Wormian bones, Large fontanelles, Arthritis, Arthropathy OMIM:259100
Gitelman Syndrome
Respiratory distress, Chondrocalcinosis, Pericardial effusion, Gout ORPHA:358
Menkes Disease
Gastrointestinal hemorrhage, Chondrocalcinosis, Atypical scarring of skin, Umbilical hernia, Intr... ORPHA:565
Craniorachischisis
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anal atre... ORPHA:63260
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Wide anterior fontanel ORPHA:85184
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Delayed cranial suture closure, Absence of subcutaneous fat, Portal hypertension, Cryptorchidism,... OMIM:620005
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Delayed cranial suture closure, Inguinal hernia, Cryptorchidism, Micropenis, Heart murmur OMIM:618653
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Genu valgum, Female pseudoherm... ORPHA:91
Kasabach-Merritt Phenomenon
Respiratory distress, Purpura, Hypopnea, Petechiae ORPHA:2330
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Delayed cranial suture closure OMIM:613038
Osteogenesis Imperfecta, Type Xxi
Wormian bones OMIM:619131
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Nocardiosis
Respiratory distress, Abnormal heart valve morphology, Dyspnea, Endocarditis, Pericarditis ORPHA:31204
Occipital Horn Syndrome
Synostosis of joints, Atypical scarring of skin, Keloids, Delayed cranial suture closure, Abnorma... ORPHA:198
Mandibuloacral Dysplasia With Type A Lipodystrophy
Wormian bones, Flexion contracture, Large fontanelles ORPHA:90153
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Genu recurvatum, Delayed cranial suture closure, Congestive heart failure, ... ORPHA:90348
Osteogenesis Imperfecta, Type Xvi
Wormian bones OMIM:616229
Osteogenesis Imperfecta, Type Xx
Wormian bones OMIM:618644
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Hydrocephalus, Camptodactyly, C... OMIM:610168
Frank-Ter Haar Syndrome
Camptodactyly, Wormian bones, Wide anterior fontanel, Delayed cranial suture closure OMIM:249420
Osteogenesis Imperfecta, Type Viii
Wormian bones, Dentinogenesis imperfecta, Inguinal hernia, Wide anterior fontanel OMIM:610915
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Communicating hydrocephalus OMIM:617011
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Atrial situs ambiguous, Congeni... OMIM:617205
Mandibuloacral Dysplasia Progeroid Syndrome
Delayed cranial suture closure, Tricuspid regurgitation, Generalized lipodystrophy, Genu valgum, ... OMIM:619127
Loeys-Dietz Syndrome 1
Camptodactyly, Craniosynostosis, Inguinal hernia, Hydrocephalus OMIM:609192
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Cervical C2/C3 vertebral fusion, Wormian bones, Pulmonary arterial hype... ORPHA:444077
Osteogenesis Imperfecta, Type Iv
Wormian bones, Dentinogenesis imperfecta OMIM:166220
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hypertrophic cardiomyopathy, Genu valgum, Mitral regurgitation, Hydrocephalus, Pulmonic stenosis ORPHA:363700
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Osteogenesis Imperfecta, Type I
Wormian bones, Dentinogenesis imperfecta OMIM:166200
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Goodpasture Syndrome
Tachypnea, Exertional dyspnea, Cyanosis OMIM:233450
Osteogenesis Imperfecta, Type Vii
Dentinogenesis imperfecta, Delayed cranial suture closure, Protrusio acetabuli, Wide cranial sutu... OMIM:610682
Alström Syndrome
Recurrent upper respiratory tract infections, Dilated cardiomyopathy, Short toe, Tooth agenesis, ... ORPHA:64
Bardet-Biedl Syndrome
Irregular menstruation, Aplasia/Hypoplasia of the vagina, Cardiomyopathy, Hydrometrocolpos, Hypog... ORPHA:110
Ayme-Gripp Syndrome
Camptodactyly, Radioulnar synostosis, Delayed cranial suture closure, Pericarditis OMIM:601088
Leptospirosis
Respiratory distress, Jaundice, Pericarditis ORPHA:509
Yunis-Varon Syndrome
Congenital hip dislocation, Cardiomyopathy, Large fontanelles, Cryptorchidism, Agenesis of corpus... OMIM:216340

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 Arl6

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 Arl6.

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

Title Journal IMPC Allele PubMed ID
ARL6IP1 gene delivery reduces neuroinflammation and neurodegenerative pathology in hereditary spastic paraplegia model. The Journal of experimental medicine (November 2023) Arl6ip1tm1a(EUCOMM)Hmgu PMC10630151

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Arl6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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