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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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
Genu valgum, Atrioventricular canal defect, Short philtrum, Conical tooth, Hypoplasia of the maxi... OMIM:619142
Retinitis Pigmentosa 55
Rod-cone dystrophy OMIM:613575
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal palate morphology, Abnormal tricuspid valve morphology, Anteverted nares, Narrow mouth, ... ORPHA:2412
Familial Median Cleft Of The Upper And Lower Lips
Fusion of gums, Irregular dentition, Abnormal maxilla morphology, Cleft upper lip, Cleft lower li... ORPHA:401942
Melanocytic Nevus Syndrome, Congenital
Short nose, Narrow nasal ridge, Anteverted nares, Everted lower lip vermilion, Broad nasal tip, O... OMIM:137550
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Short nose, Gingival fibromatosis, Respiratory distress, Anteverted nares, Gingival... ORPHA:1832
Teebi Hypertelorism Syndrome 2
Short nose, Clinodactyly of the 5th finger, Delayed eruption of teeth, Wide anterior fontanel, Hi... OMIM:619736
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Short ribs, Short long bone, Absent nasal bridge, Esophageal divert... OMIM:617925
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Respiratory distress, Temporomandibular joint ankylosis, Dyspnea, ... ORPHA:141152
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Dandy-Walker malformation, Orbital craniosynostosis, Hydrocephalus ORPHA:1538
Malan Syndrome
Retrognathia, Advanced eruption of teeth, Short nose, Mandibular prognathia, Gingival overgrowth,... OMIM:614753
Hamamy Syndrome
Everted lower lip vermilion, Wide mouth, Syndactyly, Long philtrum, Craniosynostosis, Long toe, A... OMIM:611174
Frontonasal Dysplasia 1
Short columella, Joint contracture of the hand, Radial deviation of finger, Bifid nasal tip, Post... OMIM:136760
Filippi Syndrome
Thin vermilion border, Finger clinodactyly, Short philtrum, Low hanging columella, Serrated incis... OMIM:272440
Rubinstein-Taybi Syndrome 2
Narrow palate, Retrognathia, Short 5th toe, Short first metatarsal, Increased overbite, Low hangi... OMIM:613684
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Wide anterior fontanel, Double outlet right ventricle, Prominent nose, Wide... OMIM:614886
Aarskog-Scott Syndrome
Orofacial cleft, Clinodactyly of the 5th finger, Delayed eruption of teeth, Finger syndactyly, An... ORPHA:915
Disorganization, Mouse, Homolog Of
Cleft upper lip, Hand polydactyly, Cleft palate, Limb duplication, Hip dislocation OMIM:223200
Lowry-Maclean Syndrome
Craniosynostosis, Delayed eruption of teeth, Cleft palate, Abnormal heart morphology, Convex nasa... OMIM:600252
Perching Syndrome
Respiratory distress, High palate, Camptodactyly, Cyanosis, Depressed nasal bridge OMIM:617055
Mmep Syndrome
Orofacial cleft, Triphalangeal thumb, Mandibular prognathia, Split foot, Ventricular septal defec... ORPHA:3434
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd... ORPHA:363417
Recon Progeroid Syndrome
Thin vermilion border, Progeroid facial appearance, Proximal placement of thumb, Cutaneous photos... OMIM:620370
Pierre Robin Sequence With Facial And Digital Anomalies
Clinodactyly of the 5th finger, Easily subluxated first metacarpophalangeal joints, Glossoptosis,... OMIM:311895
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Hypertension, Agenesis of corpus callosum OMIM:166990
Intellectual Disability, Birk-Barel Type
High, narrow palate, Limited elbow flexion/extension, Short philtrum, Narrow nasal bridge, Inciso... ORPHA:166108
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Short nose, Clinodactyly of the 5th finger, Dental crowding, Eruption failure, 2-3 toe syndactyly... ORPHA:476126
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Mandibular prognathia, Open bite, Microdontia, Tooth age... ORPHA:1248
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Intellectual Disability, Wolff Type
Orofacial cleft, Thick lower lip vermilion, Clinodactyly of the 5th finger, Non-midline cleft of ... ORPHA:3080
Clark-Baraitser syndrome
Thick lower lip vermilion, Genu valgum, Genu recurvatum, Anteverted nares, Prominent median palat... OMIM:300602
Auriculocondylar Syndrome 2A
Short mandibular rami, Respiratory distress, Mandibular condyle hypoplasia, Dental crowding, Temp... OMIM:614669
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Genu valgum, Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, ... ORPHA:2972
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, High... ORPHA:2863
Burn-Mckeown Syndrome
Thin vermilion border, Bilateral choanal atresia, Bilateral choanal atresia/stenosis, Short philt... OMIM:608572
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth, Exaggerated cupid's bow, H... ORPHA:2025
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Cleft ala nasi, Non-midline cleft of the upper lip, Convex nasal ridge, Wide nasal bridge, Underd... ORPHA:2007
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Pallister-Hall-Like Syndrome
Short nose, Occipital encephalocele, Short ribs, Postaxial hand polydactyly, Death in infancy, Mi... OMIM:241800
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Incisor macrodontia, Congenital hip dislocation, Cutis marmorata, Broad ... OMIM:619719
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Peg-shaped maxillary lateral incisors, Palat... ORPHA:199306
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Coronary artery fistula, Anteverted nares, Patent foramen ovale, Bifid nasa... OMIM:619343
Acrocallosal Syndrome
Everted upper lip vermilion, Pulmonary valve defects, Abnormal oral frenulum morphology, Bifid uv... OMIM:200990
Meier-Gorlin Syndrome 7
Dislocated radial head, Clubbing, Craniosynostosis, Choanal atresia, Cleft palate, Preaxial hand ... OMIM:617063
Pierre Robin Syndrome
Glossoptosis, Micrognathia, Pierre-Robin sequence, Cleft palate, Cor pulmonale OMIM:261800
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Orofacial cleft, Depressed nasal ridge, Intestinal malrotation, Incomplete cleft of the upper lip... ORPHA:77300
Pyle Disease
Limited elbow extension, Genu valgum, Cubitus valgus, Delayed eruption of teeth, Mandibular progn... OMIM:265900
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Mandibular prognathia, Abnormal nasal base norphology, Abnormal mi... ORPHA:1919
Charlie M Syndrome
Thin vermilion border, Triphalangeal thumb, Abnormal metacarpal morphology, Short philtrum, Finge... ORPHA:1406
3Mc Syndrome 2
Limited elbow movement, Caudal appendage, High palate, Depressed nasal tip, Cleft upper lip, Down... OMIM:265050
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:604213
Craniofacial-Deafness-Hand Syndrome
Short nose, Abnormality of the wrist, Narrow mouth, Depressed nasal ridge, Hypoplasia of the maxi... ORPHA:1529
Microphthalmia, Syndromic 8
Orofacial cleft, Premature skin wrinkling, Mandibular prognathia, Split foot, Cleft upper lip, Cl... OMIM:601349
Brachydactyly, Type B1
Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Wide anter... OMIM:113000
Craniotelencephalic Dysplasia
Optic atrophy, Hydrocephalus, Septo-optic dysplasia, Agenesis of corpus callosum, Craniosynostosi... ORPHA:1528
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Odontochondrodysplasia
Abnormal metaphysis morphology, Retrognathia, Short nose, Square pelvis bone, Delayed eruption of... ORPHA:166272
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Prominent fingertip pads, Glossoptosis, Microdontia, Eclabio... OMIM:602535
X-Linked Intellectual Disability, Siderius Type
Preaxial hand polydactyly, Orofacial cleft, Broad nasal tip, Cleft upper lip ORPHA:85287
Orofaciodigital Syndrome Xvii
Polydactyly, Retrognathia, High, narrow palate, Clubbing of fingers, Central Y-shaped metacarpal,... OMIM:617926
Orofaciodigital Syndrome Ii
Bifid nasal tip, Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, P... OMIM:252100
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Wide anterior fontanel, Bilateral cleft palate, Absent d... OMIM:619339
Lowry-Maclean Syndrome
Retrognathia, High, narrow palate, Short nose, Widely patent coronal suture, Atrioventricular can... ORPHA:2409
Catifa Syndrome
Tooth malposition, Delayed eruption of teeth, Increased overbite, Anteverted nares, Camptodactyly... 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
Thin vermilion border, Short philtrum, Flared metaphysis, Premature loss of teeth, Short middle p... OMIM:156510
Optic Atrophy 16
Paroxysmal tachycardia, Temporal optic disc pallor OMIM:620629
Congenital Disorder Of Glycosylation, Type Iy
Widely spaced teeth, Joint dislocation, Respiratory distress, Micrognathia, Wide mouth, Clinodactyly OMIM:300934
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Anteverted nares, Enamel hypoplasia, Long philtr... OMIM:166750
Stickler Syndrome Type 1
Short nose, Abnormal vertebral epiphysis morphology, Abnormal epiphysis morphology, Hypoplasia of... ORPHA:90653
Oculodentodigital Dysplasia, Autosomal Recessive
Long nose, Hypoplasia of the primary teeth, 2-4 toe cutaneous syndactyly, Dental crowding, Long p... OMIM:257850
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Delayed eruption of teeth, Short middle phalanx of the 5th finger, Abnormal e... ORPHA:63442
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Zechi-Ceide Syndrome
Short metatarsal, Wide nose, Sandal gap, Oligodontia, Cleft upper lip, Cleft palate, Malar flatte... OMIM:612916
Oculomaxillofacial Dysostosis
Tessier cleft, Abnormality of the nose, Underdeveloped nasal alae, Abnormality of the dentition, ... ORPHA:1794
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Craniometadiaphyseal Dysplasia
Genu valgum, Cubitus valgus, Flared metaphysis, Wide anterior fontanel, Mandibular prognathia, De... OMIM:269300
Orofaciodigital Syndrome Xix
Retrognathia, Bifid nasal tip, Microdontia, Accessory oral frenulum, Tongue nodules, Narrow palat... OMIM:620107
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Rocker bottom foot, Short nose, Clinodactyly of the 5th finger, Anteverted nares, Exaggerated cup... OMIM:618506
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Tetrasomy 5P
Short nose, Clinodactyly of the 5th finger, Short hallux, Respiratory distress, Wide anterior fon... ORPHA:3309
Frank-Ter Haar Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Short philtrum, Delayed eruption ... ORPHA:137834
Atkin-Flaitz Syndrome
Anteverted nares, Abnormality of the dentition, Everted lower lip vermilion, Maxillary lateral in... ORPHA:1193
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Cleft hard palate, Genu valgum, Fixed elbow flexion, Small epiphyses, Delayed... ORPHA:166016
Liang-Wang Syndrome
Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Wide n... OMIM:618729
Congenital Hydrocephalus
Optic atrophy, Hydrocephalus, Colpocephaly, Ventriculomegaly, Macular hypoplasia ORPHA:2185
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc... OMIM:602418
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Orofacial cleft, 2-3 toe syndactyly, Postaxial hand polydactyly, Broad hallux, 2-3 finger syndact... OMIM:217085
Attrv30M Amyloidosis
Vitreous floaters, Cardiomyopathy, Impotence, Abnormal autonomic nervous system physiology, Arrhy... ORPHA:85447
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... ORPHA:2791
Arthrogryposis, Distal, Type 1C
Rocker bottom foot, Retrognathia, Thin vermilion border, Clinodactyly of the 5th finger, Shoulder... OMIM:619110
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Abnormal dentin morpholog... ORPHA:49042
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Microphthalmia With Limb Anomalies
Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypo... OMIM:206920
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the ... OMIM:617102
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Abnormality of the elbow, Wide anterior fontanel, High palate, Abnormality o... ORPHA:3098
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Hypergonadotropic hypogonadism, Primary amenorrhea, Tachycardia, Retr... OMIM:619737
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Incisor macrodontia, Narrow mouth, Cleft palate, Long philtrum, Atrial sep... OMIM:615502
Pseudotrisomy 13 Syndrome
Tricuspid atresia, 11 pairs of ribs, Dextrocardia, Encephalocele, 2-3 toe syndactyly, Postaxial h... OMIM:264480
Caribbean Parkinsonism
Ventriculomegaly, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomi... ORPHA:97355
Developmental And Epileptic Encephalopathy 66
Widely spaced teeth, Clinodactyly of the 5th finger, Dextrocardia, Everted lower lip vermilion, D... OMIM:618067
Camptodactyly Syndrome, Guadalajara Type 1
Short nose, Cubitus valgus, Anteverted nares, Mandibular prognathia, Open bite, High palate, Narr... ORPHA:1327
Skraban-Deardorff Syndrome
Absent cupid's bow, Widely spaced teeth, Anteverted nares, Micrognathia, Cleft palate, Thick uppe... OMIM:617616
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares, Micrognathia, Cleft palate, Thin upper lip vermilion ORPHA:2015
Chromosome 3Pter-P25 Deletion Syndrome
Retrognathia, Thin vermilion border, Atrioventricular canal defect, Low hanging columella, Anteve... OMIM:613792
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Talon cusp, Microdontia, Short metacarpal,... OMIM:605282
Opitz Gbbb Syndrome
Rectourethral fistula, Solitary median maxillary central incisor, Wide anterior fontanel, Antever... OMIM:300000
Cleidocranial Dysplasia 2
Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Wide anterior fontanel, Delaye... OMIM:620099
Temple-Baraitser Syndrome
Everted upper lip vermilion, Everted lower lip vermilion, Broad thumb, Wide mouth, Short distal p... ORPHA:420561
Laron Syndrome
Delayed eruption of teeth, Prematurely aged appearance, Depressed nasal ridge, Tooth agenesis, Mi... ORPHA:633
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Retrognathia, Limited elbow movement, Cardiomegaly, Wide nose, Ventricul... OMIM:300280
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Bifid nasal tip, Intestinal malrotation, Flexion contr... ORPHA:2712
20P12.3 Microdeletion Syndrome
Narrow mouth, Hypoplasia of the maxilla, Broad thumb, Malar flattening, Long philtrum, Broad hall... ORPHA:261295
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Proximal placement of thumb, Respiratory distress, Wide anterior fontanel, Anteverted... OMIM:217980
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, 2-3 toe syndactyly, Narrow mouth, Cleft upper lip, Micrognathia, Cleft palate, Bro... OMIM:239800
Cohen Syndrome
High, narrow palate, Genu valgum, Cubitus valgus, Short metatarsal, Short philtrum, Tapered finge... OMIM:216550
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Glossoptosis, Oral synechia, Radial deviation of the 2nd finger, ... ORPHA:1388
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Genitopalatocardiac Syndrome
Transposition of the great arteries, Cleft upper lip, Micrognathia, Cleft palate, Double outlet r... OMIM:231060
Marshall Syndrome
Small proximal tibial epiphyses, Bifid uvula, Irregular femoral epiphysis, Long philtrum, Irregul... OMIM:154780
Multiple Pterygium Syndrome, X-Linked
Short finger, Hypoplastic heart, Multiple pterygia, Joint dislocation, Thin ribs, Depressed nasal... OMIM:312150
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Diamond-Blackfan Anemia 6
Retrognathia, Triphalangeal thumb, Ventricular hypertrophy, Cleft upper lip, Micrognathia, Bifid ... OMIM:612561
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Abnormal heart morphology, Cervical ribs, Long philtrum, Short 5th finger, Lo... ORPHA:508488
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormality of macular pigmentation, Hypertension, Facial pals... ORPHA:97229
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormal thumb morphology, Abnormal zygomatic bone morphology, Abnormality of the wrist, Abnormal... ORPHA:2511
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Atrioventricular canal defect, Short first metatarsal, Ulnar bowing, Epip... OMIM:619135
Lujan-Fryns Syndrome
Short philtrum, Dental crowding, High palate, Abnormality of the dentition, Hypoplasia of the max... ORPHA:776
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Pierre-Robin sequence, Cleft palate, Finger aplasia OMIM:172880
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Broad thumb, Wide mouth, Umbilical hernia, Short distal phalanx of finger, Long ... OMIM:616331
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Opitz-Kaveggia Syndrome
Radial deviation of finger, Dental crowding, Prominent fingertip pads, Intestinal malrotation, Br... OMIM:305450
Holzgreve Syndrome
Cleft upper lip, Hand polydactyly, Cleft palate, Hypoplastic left heart OMIM:236110
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Flat capital femoral epiphysis, Delayed eruption of teeth, Dislocated radial head, Flared metaphy... OMIM:612350
Congenital Disorder Of Glycosylation, Type Iu
Short nose, Respiratory distress, High palate, Death in infancy, Micrognathia, Thin upper lip ver... OMIM:615042
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, Overjet, Thick lower lip vermilion, Short philtrum, Dental crowding, Anteverted nar... OMIM:618342
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Ellis-Van Creveld Syndrome
Genu valgum, Delayed eruption of teeth, Hypoplastic iliac wing, Abnormal alveolar ridge morpholog... OMIM:225500
Atelosteogenesis, Type Iii
Widened distal phalanges, Tombstone-shaped proximal phalanges, Sandal gap, Hitchhiker thumb, Tibi... OMIM:108721
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Micrognathia, Cleft palate, Bowing of the legs, Bowing of ... OMIM:249710
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short nose, Aganglionic megacolon, Short philtrum, Mandibular prognathia, Delayed ossification of... OMIM:239300
Robinow Syndrome, Autosomal Recessive 2
Short nose, Bicuspid aortic valve, Triangular mouth, Cleft soft palate, Sandal gap, Anteverted na... OMIM:618529
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Coffin-Siris Syndrome 2
Thick lower lip vermilion, Short philtrum, Delayed eruption of teeth, Wide nose, Anteverted nares... OMIM:614607
Odontochondrodysplasia 1
Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Delayed... OMIM:184260
Holoprosencephaly 9
Solitary median maxillary central incisor, Bilateral cleft palate, Hypoplasia of the premaxilla, ... OMIM:610829
Leopard Syndrome 1
Limited elbow movement, Cubitus valgus, Spina bifida occulta, Hyposmia, Mandibular prognathia, Mi... OMIM:151100
Acrodysostosis
Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Coxa valga, Genu varum, Hypop... ORPHA:950
Keipert Syndrome
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Short hallux, Exaggerated cupid's... ORPHA:2662
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short distal phalanx of finger, Broad nasal tip, Abnormality of the de... ORPHA:2776
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Elbow flexion contracture, Hydrocephalus OMIM:619470
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly, Retinal dysplasia OMIM:614830
Microphthalmia With Limb Anomalies
Sandal gap, Tibial bowing, Short long bone, Death in infancy, Broad thumb, Hypoplasia of the prem... ORPHA:1106
Cleidocranial Dysplasia
Glossoptosis, Sinusitis, Abnormal epiphysis morphology, Abnormal metacarpal morphology, Abnormali... ORPHA:1452
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla OMIM:618383
Hypertrichosis Lanuginosa Congenita
Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth ORPHA:2222
Craniolenticulosutural Dysplasia
Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Wide anterior fontanel, An... OMIM:607812
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Aganglionic meg... ORPHA:2919
Distal Deletion 10P
Clinodactyly of the 5th finger, Non-midline cleft of the upper lip, Ectopic anus, Anal atresia, M... ORPHA:1580
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Flexion contracture, Hydrocephalus OMIM:300884
Rapp-Hodgkin Syndrome
2-3 toe cutaneous syndactyly, Conical tooth, Underdeveloped nasal alae, Narrow mouth, Microdontia... OMIM:129400
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Low hanging columella, Dental crowding, Anteverted nares, High palate,... OMIM:618825
Bartsocas-Papas Syndrome
Short nose, Popliteal pterygium, Finger syndactyly, Underdeveloped nasal alae, Narrow mouth, Syno... ORPHA:1234
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti... ORPHA:2228
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Cardioacrofacial Dysplasia 2
Genu valgum, Clinodactyly of the 5th finger, Atrioventricular canal defect, Short philtrum, Conic... OMIM:619143
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Anteverted nares, Abnormality of primary teeth, Incisor macrodontia, High p... ORPHA:438216
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Retrognathia, Hypoplastic iliac wing, Umbilical hernia, Narrow palate, Oligodontia, Camptodactyly... OMIM:235510
Oculodentodigital Dysplasia
Joint contracture of the 5th finger, Broad alveolar ridges, Microdontia, Clinodactyly, Narrow nos... OMIM:164200
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Split hand, Camptodactyly, Hypoplasia of the maxilla, Cleft palate, Mi... OMIM:246560
Jackson-Weiss Syndrome
Abnormal palate morphology, Abnormal fibula morphology, Short metatarsal, Mandibular prognathia, ... ORPHA:1540
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Hyperextensibility of ... OMIM:619797
Parietal Foramina 1
Wormian bones, Cleft upper lip, Cleft palate, Encephalocele OMIM:168500
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Hypoplastic nasal tip, Clubbing of fingers, 2-3 toe syndactyly, High palate, Pulmonic stenosis, M... ORPHA:3304
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly, Short nose, Hypoventilation, Respiratory distress, Anteverted nares, High palate, Pr... ORPHA:314655
Carpenter Syndrome 1
Flared iliac wing, Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Umbilica... OMIM:201000
Char Syndrome
Clinodactyly of the 5th finger, Short philtrum, Triangular mouth, Symphalangism of the 5th finger... ORPHA:46627
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Orofaciodigital Syndrome Viii
Polydactyly, Bifid nasal tip, High palate, Cleft palate, Broad nasal tip, Syndactyly, Short tibia... OMIM:300484
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis OMIM:123155
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Retrognathia, 11 pairs of ribs, High palate, Camptodactyly, Prenatal death, M... OMIM:618393
Holt-Oram Syndrome
Proximal placement of thumb, Cervical C2/C3 vertebral fusion, Aplasia of the 1st metacarpal, 1-2 ... OMIM:142900
Baraitser-Winter Syndrome 1
Retrognathia, Orofacial cleft, Short nose, Bicuspid aortic valve, Anteverted nares, Duplication o... OMIM:243310
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth ORPHA:2027
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Tapered finger, Hypoplasia of the maxilla, Short palm, Camptodactyly of finger, Prom... ORPHA:85279
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Coffin-Siris Syndrome 3
Wide nose, Anteverted nares, High palate, Umbilical hernia, Cleft palate, Wide mouth, Thick vermi... OMIM:614608
Neurogenic Arthrogryposis Multiplex Congenita
Rocker bottom foot, Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, W... ORPHA:1143
Van Maldergem Syndrome 1
Short 4th metacarpal, Wide anterior fontanel, Short clavicles, High palate, Anal atresia, Irregul... OMIM:601390
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Narrow mouth, High palate, Bo... OMIM:613849
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o... ORPHA:1307
Smith-Magenis Syndrome
Short nose, Clinodactyly of the 5th finger, Short philtrum, Anteverted nares, Mandibular prognath... ORPHA:819
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Micrognath... OMIM:616367
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short nose, Anteverted nares, Short distal phalanx of toe, Narrow mouth, Microdontia, Bilateral t... OMIM:619356
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Widely-spaced incisors, Smooth philtrum, Bulbous nose, Thin upper lip ... OMIM:618737
Neuralgic Amyotrophy
Narrow mouth, Bifid uvula, Cleft palate, Syndactyly, Acrocyanosis ORPHA:2901
Codas Syndrome
Short nose, Midline defect of the nose, Delayed eruption of teeth, Abnormal dental enamel morphol... ORPHA:1458
Lethal Recessive Chondrodysplasia
Respiratory distress, Short long bone, Flared elbow metaphyses, Micrognathia, Macroglossia ORPHA:1423
48,Xxyy Syndrome
Thick lower lip vermilion, Clinodactyly of the 5th finger, Abnormal shoulder morphology, Broad ja... ORPHA:10
Cleft Palate, Isolated
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, 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
Spina bifida occulta, Mandibular prognathia, Abnormal digit morphology, Cleft upper lip, Cleft pa... OMIM:268850
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Abnormal dental enamel morphology, Bilateral cleft palate, Ectodermal dysplasi... ORPHA:3253
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Short long bone, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Righ... OMIM:306955
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Limited elbow extension and supination, Cleft upper lip, Cleft pa... OMIM:244600
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Abnormal palate morphology, Narrow nasal bridge, Abnormal dental ... ORPHA:1798
His Bundle Tachycardia
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... OMIM:119600
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Hydrocephalus, Dislocated radial head, Ventriculomegaly, Partial agenesis ... OMIM:304100
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Short ribs, Short long bone, Flat acetabular roof, Hypoplastic pelv... OMIM:616300
Pfeiffer Syndrome
Short nose, 3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Dent... OMIM:101600
Bohring-Opitz Syndrome
Retrognathia, Dislocated radial head, Bilateral cleft palate, Broad alveolar ridges, Intestinal m... OMIM:605039
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Meckel Syndrome, Type 8
Polydactyly, Short nose, Occipital encephalocele, Encephalocele, Depressed nasal ridge, Cleft upp... OMIM:613885
Spondylometaphyseal Dysplasia, Schmidt Type
Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Genu valgum, Abn... ORPHA:93316
Congenital Disorder Of Glycosylation, Type Ie
High, narrow palate, Ankle flexion contracture, Respiratory distress, Upper limb undergrowth, Cam... OMIM:608799
Restrictive Dermopathy 2
Rectal prolapse, Respiratory distress, Short clavicles, Overtubulated long bones, Hypoplastic fac... OMIM:619793
Thomas Syndrome
Cleft upper lip, Cleft palate, Hypoplastic left heart ORPHA:3316
Waardenburg Syndrome Type 1
Premature graying of hair, Short nose, Aganglionic megacolon, Meningocele, Mandibular prognathia,... ORPHA:894
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Hypertension, Abnormal autonomic nervous system physiology, Flexion contra... OMIM:613870
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Delayed eruption of teeth, Prominent nasal bridge, Dentinogenesis imperfecta, Con... ORPHA:71267
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Micrognathia, Cleft palate ORPHA:2016
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve, Anteverted nares, Cleft upper lip, Bifid uvula, Cleft palate, Bulbous... OMIM:300958
Intellectual Developmental Disorder, Autosomal Recessive 13
Short philtrum, Slender finger, Cleft upper lip, Downturned corners of mouth, Smooth philtrum, Wi... OMIM:613192
8Q22.1 Microdeletion Syndrome
Abnormal nostril morphology, Sandal gap, Finger syndactyly, Abnormality of the dentition, Depress... ORPHA:178303
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Aarskog-Scott Syndrome
Short nose, Radial deviation of finger, Anteverted nares, Hyperextensibility of the finger joints... OMIM:305400
Methylmalonic Acidemia With Homocystinuria
Retinopathy, Hydrocephalus ORPHA:26
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Dental crowding, Open bite, Hyperplasia of the maxilla OMIM:613671
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re... OMIM:619897
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d... OMIM:610476
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, High, narrow palate, Joint dislocation, Glossoptosis, Tapered finger, Campt... ORPHA:3201
Primary Pulmonary Hypoplasia
Dextrocardia, Patellar hypoplasia, Hypoxemia, Micrognathia, Secundum atrial septal defect, Cleft ... ORPHA:2257
Aicardi Syndrome
Bifid ribs, Intestinal polyposis, Short philtrum, Missing ribs, Rib fusion, Cleft upper lip, Clef... ORPHA:50
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Short nose, Abnormal femoral neck/head morphology, Abnormality of... ORPHA:163649
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Thin upper lip vermilion, Hyperplasia of the maxilla OMIM:618587
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Dental crowding, Intestinal malrotation, Paranasal sinus hypoplasia, ... OMIM:300373
Craniometaphyseal Dysplasia, Autosomal Recessive
Flared metaphysis, Broad alveolar ridges, Mandibular prognathia, Bony paranasal bossing, Nasal co... OMIM:218400
Microphthalmia, Syndromic 12
Retrognathia, Hypoplastic left atrium, Intestinal malrotation, Micrognathia, Cleft palate, Broad ... OMIM:615524
Spinocerebellar Ataxia, Autosomal Recessive 20
Wide nasal base, Delayed eruption of teeth, Dental crowding, Anteverted nares, High palate, Campt... OMIM:616354
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Cleft palate, Toe syndac... DECIPHER:46
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad metatarsal, Long philtrum, Cone-shaped epiphysis, Short philtrum, Bilater... ORPHA:439822
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ... ORPHA:3104
Coffin-Lowry Syndrome
Everted lower lip vermilion, Short metacarpal, Abnormal mitral valve morphology, Wide mouth, Shor... ORPHA:192
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Oculodentodigital Dysplasia
Broad alveolar ridges, Tooth agenesis, Umbilical hernia, Clinodactyly, Taurodontia, Anteverted na... ORPHA:2710
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic... OMIM:228520
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Retrognathia, Abnormal hip bone morphology... ORPHA:2631
Chondrodysplasia With Joint Dislocations, Gpapp Type
Irregular epiphyses of the metacarpals, Short long bone, Short metacarpal, Patellar dislocation, ... OMIM:614078
Tetrasomy 12P
Short nose, Abnormal soft palate morphology, Delayed eruption of teeth, Anteverted nares, Everted... ORPHA:884
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Adducted thumb, Muscular ventricular septal defect, Notched primary central incisor, Brachydactyly OMIM:620062
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Retinal dysplasia, Hydrocephalus, Camptodactyly of finger, Flexion contracture, Ve... ORPHA:272
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal telangiectasia, Arrhythmia, Ventricular preexcitation, Retinal vascular to... ORPHA:104
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy, Wormian bones ORPHA:2773
Mosaic Trisomy 14
Anteverted nares, Ectopic anus, High palate, Abnormal rib morphology, Camptodactyly of finger, Mi... ORPHA:1703
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Thin vermilion border, Death in childhood, Second metatarsal posteriorly plac... OMIM:214150
Down Syndrome
Sandal gap, Hypoplastic iliac wing, Clinodactyly, Aganglionic megacolon, Patent foramen ovale, Sh... OMIM:190685
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Abnormal autonomic nervous system physiology, Sinus b... ORPHA:101016
Chromosome 6Pter-P24 Deletion Syndrome
Rocker bottom foot, Clinodactyly of the 5th finger, Dental crowding, Broad toe, Patent foramen ov... OMIM:612582
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Livedo, Conical incisor, Carious teeth, Enamel hypoplasia, Facial telangiectasia, Convex nasal ri... OMIM:614564
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Widely spaced teeth, Mandibular prognathia, Oligodontia, Microdontia, Hy... OMIM:601216
Pycnodysostosis
Narrow palate, Absent frontal sinuses, Narrow iliac wing, Osteolytic defects of the distal phalan... OMIM:265800
Eiken Syndrome
Eruption failure, Delayed ossification of carpal bones, Flat acetabular roof, Broad metatarsal, M... OMIM:600002
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Respiratory distress, Mandibular condyle hypoplasia, ... ORPHA:137888
Coach Syndrome 2
Hydrocephalus, Hypertension, Chorioretinal coloboma, Agenesis of corpus callosum OMIM:619111
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Thin vermilion border, Short philtrum, Respiratory distress, Micrognathia, Bulbous nose, Wide nas... ORPHA:261304
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:303350
Holoprosencephaly 7
Short nose, Midline defect of the nose, Solitary median maxillary central incisor, Hypoplastic na... OMIM:610828
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Retinal dystrophy, Hydrocephalus, Facial palsy, Cardiomyopathy, Flexion contracture, Abnormal lef... OMIM:613155
3Mc Syndrome 1
Atrial septal defect, Caudal appendage, Lambdoidal craniosynostosis, Clinodactyly of the 5th fing... OMIM:257920
Orofacial Cleft 14
Median cleft upper lip OMIM:615892
Congenital Heart Defects And Skeletal Malformations Syndrome
Thin vermilion border, Long nose, Short nose, Clinodactyly of the 5th finger, Sandal gap, Dental ... OMIM:617602
Van Maldergem Syndrome 2
Short 4th metacarpal, Hip subluxation, Wide anterior fontanel, Short clavicles, High palate, Irre... OMIM:615546
Aicardi Syndrome
Proximal placement of thumb, Anteverted nares, Missing ribs, Rib fusion, Spina bifida, Cleft uppe... OMIM:304050
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Coronal craniosynostosis, Micrognathia, Malar flattening, Choanal sten... OMIM:241310
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Rocker bottom foot, Thin vermilion border, Short philtrum, Mandibular prognathia, Death in infanc... OMIM:618622
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Genu valgum, Small epiphyses, Mandibular prognathia, Short long bone, Hi... OMIM:618363
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Prominence of the zygo... ORPHA:364577
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Orofacial Cleft 13
Retrognathia, Cleft soft palate, Oligodontia, Micrognathia, Malar flattening OMIM:613857
Acrocraniofacial Dysostosis
Advanced eruption of teeth, Genu valgum, Triphalangeal thumb, Abnormal hip bone morphology, Short... ORPHA:949
Diaphanospondylodysostosis
Respiratory distress, Myelomeningocele, Missing ribs, Cleft palate, Narrow pelvis bone, Abnormal ... ORPHA:66637
Osteopathia Striata-Cranial Sclerosis Syndrome
Abnormal metaphysis morphology, Retrognathia, High, narrow palate, Spina bifida occulta, Delayed ... ORPHA:2780
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Ventriculomegaly, Occipital encephalocele, Retinal dysplasia ORPHA:324416
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Short nose, Overlapping fingers, Narrow nasal bridge, Low hanging columella, Anteverted nares, De... OMIM:619383
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, Hypoplastic... ORPHA:40366
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Larsen-Like Syndrome
Clinodactyly of the 5th finger, Joint dislocation, Wide anterior fontanel, Radial deviation of th... OMIM:608545
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Cleft palate OMIM:600251
Autosomal Recessive Amelia
Orofacial cleft, Non-midline cleft of the upper lip, Amelia involving the upper limbs, Acromelia ... ORPHA:1027
Kniest Dysplasia
Flared metaphysis, Splayed epiphyses, Delayed epiphyseal ossification, Abnormal cartilage collage... OMIM:156550
Recombinant 8 Syndrome
Clinodactyly of the 5th finger, Anteverted nares, Gingival overgrowth, Abnormality of the dentiti... ORPHA:96167
Moebius Syndrome
Radial deviation of finger, Respiratory distress, High palate, Abnormality of the dentition, Camp... OMIM:157900
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max... ORPHA:397973
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Cleft palate, High palate, Respiratory distress OMIM:614399
Histiocytoid Cardiomyopathy
Optic atrophy, Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial f... ORPHA:137675
Pycnodysostosis
Hypoplastic iliac wing, Persistent open anterior fontanelle, Wormian bones, Delayed eruption of p... ORPHA:763
Nance-Horan Syndrome
Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Short phalanx of fing... OMIM:302350
Marbach-Rustad Progeroid Syndrome
Femur fracture, Ventricular septal hypertrophy, Short clavicles, Eruption failure, Wormian bones,... OMIM:619322
Fried Syndrome
Hydrocephalus, Abnormal optic nerve morphology ORPHA:85335
Van Den Ende-Gupta Syndrome
Dislocated radial head, Dental crowding, Short ribs, Femoral bowing, Everted lower lip vermilion,... OMIM:600920
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Intestinal malrotation, Cutis marmorata, Syndactyly, Enamel agenesis, Long philtrum, Anteverted n... OMIM:614701
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Esophageal atresia, Proximal placement of thumb, Respiratory distress, Anteverted nar... OMIM:610536
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Arachnodactyly, Mitral valve prolapse, Umbilical hernia, Craniosynostosis... OMIM:182212
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Depressed na... ORPHA:181
Bullous Dystrophy, Hereditary Macular Type
Short finger, Death in childhood, Tapered finger, Acrocyanosis OMIM:302000
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r... OMIM:164745
Rubinstein-Taybi Syndrome 1
Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Dental crowding, Hypoplasti... OMIM:180849
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Cleft upper lip, Cleft palate, Ventric... OMIM:214300
Congenital Syphilis
Osteochondrosis, Myocarditis, Purpura, Large placenta, Petechiae, Tibial bowing, High palate, Not... ORPHA:499009
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Retrognathia, Mandibular prognathia, Camptodactyly of finger, Micrognathia, Bifid uvula, Cleft pa... ORPHA:2521
Teebi Hypertelorism Syndrome 1
Short nose, Dental crowding, Anteverted nares, Sagittal craniosynostosis, Coronal craniosynostosi... OMIM:145420
Hydrolethalus Syndrome 1
Stillbirth, Midline defect of the nose, Anencephaly, Upper limb undergrowth, Postaxial hand polyd... OMIM:236680
Hemifacial Atrophy, Progressive
Short mandibular rami, Dental malocclusion, Tongue atrophy, Delayed eruption of teeth OMIM:141300
Microcephaly-Capillary Malformation Syndrome
Short nose, Wide nose, Patent foramen ovale, Hypoplasia of the maxilla, Cleft palate, Brachydacty... OMIM:614261
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Prominent ... OMIM:170390
Chromosome 13Q33-Q34 Deletion Syndrome
Anencephaly, Pulmonic stenosis, Left ventricular hypertrophy, Overlapping toe, Advanced eruption ... OMIM:619148
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Long nose, Short philtrum, Narrow nasal bridge, Dental crowding, Hyperextensibility of the finger... OMIM:309520
Chromosome 18Q Deletion Syndrome
Rocker bottom foot, Proximal placement of thumb, Aortic valve stenosis, Bifid uvula, Umbilical he... OMIM:601808
Auriculocondylar Syndrome 4
Narrow mouth, Glossoptosis, Micrognathia, Apnea, Cleft palate OMIM:620457
Orofaciodigital Syndrome Vi
Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,... OMIM:277170
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Multicentric Osteolysis, Nodulosis, And Arthropathy
Thin metacarpal cortices, Wrist flexion contracture, Broad metatarsal, Sclerotic cranial sutures,... OMIM:259600
Diencephalic Syndrome
Optic atrophy, Hydrocephalus, Long penis ORPHA:1672
Beemer Lethal Malformation Syndrome
Hydrocephalus, Ambiguous genitalia OMIM:209970
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Craniosynostosis 2
Supernumerary tooth, Triphalangeal thumb, Cleft soft palate, Unicoronal synostosis, Bicoronal syn... OMIM:604757
Blepharocheilodontic Syndrome 1
Neural tube defect, Conical tooth, Choanal atresia, Anal atresia, Cleft upper lip, Hypodontia, Cu... OMIM:119580
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Bowel diverticulosis, Hyperextensibility of the finger joints, Fragile skin, I... OMIM:130000
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Anteverted nares, Enlarged epiphyses, Premature osteoarthritis, Epiphyseal dysplasia, Pierre-Robi... OMIM:184840
Cornelia De Lange Syndrome 5
Limited elbow extension, Retrognathia, Thin vermilion border, Widely spaced teeth, Clinodactyly o... OMIM:300882
Juberg-Hayward Syndrome
Limited elbow extension, Abnormal carpal morphology, Aplasia/Hypoplasia of the thumb, Abnormality... OMIM:216100
Acrofacial Dysostosis, Palagonia Type
Supernumerary tooth, High, narrow palate, Short 4th metacarpal, Spina bifida occulta, Finger synd... ORPHA:1787
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Cardiomegaly, Flared metaphysis, Anteverted nares, Short ribs, Hypertrophic cardiomyo... OMIM:616897
Premature Aging Syndrome, Penttinen Type
Retrognathia, Tibial bowing, Aplasia of the nasal bone, Flexion contracture of finger, Cervical r... OMIM:601812
Emanuel Syndrome
Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Long philtrum, Broad jaw,... ORPHA:96170
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Micrognathia, Dilated cardiomyopathy, Respiratory distress OMIM:300580
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Death in infancy, Arachnodactyly, Micrognathia, Cleft palate, Malar flattening, Atr... ORPHA:93946
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Ectodermal dysplasia, Microdontia, Cleft lip, Cleft upper lip, Micro... OMIM:225060
Nager Syndrome
Abnormal palate morphology, Hypoplasia of the radius, Triphalangeal thumb, Aplasia/Hypoplasia of ... ORPHA:245
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Advanced eruption of teeth, Solitary median maxillary central incisor, Clinodactyl... ORPHA:952
Treacher-Collins Syndrome
Retrognathia, Glossoptosis, Tracheoesophageal fistula, Tooth agenesis, Wide mouth, Multiple encho... ORPHA:861
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Ventr... OMIM:600987
Chromosome 1Q41-Q42 Deletion Syndrome
Widely spaced teeth, Short philtrum, Sandal gap, Anteverted nares, High palate, Cleft upper lip, ... OMIM:612530
Orofaciodigital Syndrome Type 10
Retrognathia, Fibular aplasia, Tarsal synostosis, Preaxial polydactyly, Cleft soft palate, Short ... ORPHA:2756
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Marshall Syndrome
Short nose, Thick lower lip vermilion, Genu valgum, Anteverted nares, High palate, Abnormality of... ORPHA:560
Osteoglophonic Dysplasia
Eruption failure, Short metacarpal, Broad metatarsal, Broad thumb, Long philtrum, Craniosynostosi... OMIM:166250
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Postaxial polydactyly, Broad hallux, Dou... OMIM:217095
Double Outlet Right Ventricle
Cyanosis, Truncus arteriosus, Narrow mouth, Intestinal malrotation, Pulmonic stenosis, Tachypnea,... ORPHA:3426
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Ventriculomegaly, Multiple joint contractures, Abnormal autonomic nervous system p... ORPHA:466934
Zaki Syndrome
Broad distal phalanx of finger, Short philtrum, Wide nose, Anteverted nares, Patent foramen ovale... OMIM:619648
X-Linked Intellectual Disability Due To Gria3 Mutations
Narrow palate, Short philtrum, Genu recurvatum, Mandibular prognathia, Short upper lip, Malar fla... ORPHA:364028
Pallister-Hall Syndrome
Oligodactyly, Shortening of all distal phalanges of the fingers, Syndactyly, Hip dislocation, Sho... OMIM:146510
Three M Syndrome 2
Delayed eruption of teeth, Slender long bone, Anteverted nares, Prominent nasal tip, Thin ribs, H... OMIM:612921
1Q21.1 Microduplication Syndrome
Hypospadias, Hydrocephalus, Cryptorchidism, Arthrogryposis multiplex congenita, Hip dislocation ORPHA:250994
Nabais Sa-De Vries Syndrome, Type 2
Thin vermilion border, Clinodactyly of the 5th finger, Bilateral cleft palate, Anteverted nares, ... OMIM:618829
Agnathia-Otocephaly Complex
Situs inversus totalis, Wide nose, Respiratory distress, Narrow mouth, Mandibular aplasia, Microg... OMIM:202650
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Stillbirth, Sandal gap, Short greater sciatic notch, Bifid hum... OMIM:256050
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Orofacial cleft, Triphalangeal thumb, Non-midline cleft of the upper lip, ... OMIM:141400
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Trichorhinophalangeal Syndrome, Type I
Short metacarpal, Microdontia, Cone-shaped epiphyses of the proximal phalanges of the hand, Long ... OMIM:190350
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
High palate, Broad thumb, Micrognathia, Long hallux, Secundum atrial septal defect, Prominent nos... OMIM:620194
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Hall-Riggs Syndrome
Abnormal metaphysis morphology, Delayed eruption of teeth, Abnormal dental enamel morphology, Ant... ORPHA:2107
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Inguinal hernia, Bradycardia, Abnormal autonomic nervous system physiology, Joint ... OMIM:614498
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Hypothyroidism, Congenital, Nongoitrous, 6
Wormian bones, Macroglossia, Congenital hip dislocation, Delayed eruption of teeth OMIM:614450
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:600348
3C Syndrome
Abnormal hip bone morphology, Death in infancy, Intestinal malrotation, Pulmonic stenosis, Abnorm... ORPHA:7
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Absent toe, Short ribs, Hypoplastic pelvis, Syndactyly, Umbilical hernia, Abnormal cardiac septum... OMIM:308050
Ellis Van Creveld Syndrome
Microdontia, Abnormal oral frenulum morphology, Short distal phalanx of finger, Abnormality of th... ORPHA:289
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft of the upper lip, Cleft palate, Prominent nasal bridge ORPHA:85273
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Mandibular prognathia, Prominent nasal bridge, High palate OMIM:300676
Distal Monosomy 7Q36
Clinodactyly of the 5th finger, Non-midline cleft of the upper lip, Micrognathia, Cleft palate, W... ORPHA:1636
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Retinal coloboma, Hypogonadism, Cryptorchidism, Rod-cone dystrophy OMIM:601794
Tarp Syndrome
Rocker bottom foot, Glossoptosis, Abnormal duodenum morphology, Tongue nodules, Clinodactyly, Alv... ORPHA:2886
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Optic nerve hypoplasia, ... OMIM:618736
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:619302
Coffin-Siris Syndrome 11
Esophageal atresia, Cleft soft palate, High palate, Prominent metopic ridge, Downturned corners o... 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, Bilateral cleft palate, Anterior encephalocele, Cleft upper lip, Foot oligodactyly... OMIM:601357
Kleeblattschaedel
Hydrocephalus, Craniosynostosis, Elbow ankylosis OMIM:148800
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short nose, Atrial septal defect, Hypoplasia of the maxilla, Micrognathia, Cleft palate, Malar fl... ORPHA:79113
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Mandibular prognathia, Bulbous nose, Short philtrum ORPHA:93945
Robinow Syndrome, Autosomal Dominant 1
Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bon... OMIM:180700
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Hartsfield Syndrome
Encephalocele, Non-midline cleft of the upper lip, Split hand, Cleft palate, Aplasia/Hypoplasia o... ORPHA:2117
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Wide nose, Respiratory distress, Patent foramen ovale, Microretrognathia, Add... ORPHA:89844
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Genu valgum, Patellar subluxation, Hydrocephalus OMIM:248000
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Aplasia/Hypoplasia of the thumb, Finger synda... ORPHA:1908
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypoplasia of penis, Cardiac arrest, Abnormal autonomic nervous system physiology, Arrhythmia, Sm... ORPHA:168593
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, High, narrow palate, Ethmoidal encephalocele, Choanal atresia, Depressed nasal rid... OMIM:607597
Frontofacionasal Dysplasia
Orofacial cleft, Midline defect of the nose, Short nose, Hypoplasia of the frontal bone, Cleft up... OMIM:229400
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Tooth agenesis... OMIM:268310
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Long philtrum, Short f... OMIM:608670
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate OMIM:120433
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
W Syndrome
Hypoplasia of the ulna, Cubitus valgus, Camptodactyly, Metatarsus adductus, Clinodactyly, Broad n... ORPHA:2804
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Genu valgum, Cubitus valgus, Metaphyseal striations, Hypoplasia of the maxilla, Slender long bone... OMIM:608154
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Occipital encephalocele, Hydrocephalus ORPHA:352682
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Dental crowding, 2-3 toe syndactyly, Exaggerated median tongue furrow, Hyperplasia... ORPHA:313892
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Stillbirth, Micrognathia, Multiple unerupted teeth OMIM:183300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Widely spaced teeth, Bilateral choanal atresia, Conical tooth, 2-3 toe syndactyly, Selective toot... OMIM:106260
Multicentric Carpotarsal Osteolysis Syndrome
Ankle swelling, Metacarpal osteolysis, Wrist swelling, Carpal osteolysis, Hypoplasia of the maxil... OMIM:166300
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft upper lip, Micrognathia, Cleft palate, Abnormal rib morphology OMIM:601076
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Short philtrum, Accessory oral frenulum, Sandal gap, Postaxial... OMIM:617927
Acrocardiofacial Syndrome
Atrial septal defect, Abnormal metacarpal morphology, Joint dislocation, Finger syndactyly, Trunc... ORPHA:2008
Hypoglossia With Situs Inversus
Situs inversus totalis, Respiratory distress, Narrow mouth, High palate, Micrognathia, Microgloss... OMIM:612776
Ramon Syndrome
Narrow palate, Gingival fibromatosis, Delayed eruption of teeth, Abnormal dental enamel morpholog... ORPHA:3019
Anencephaly 2
Anencephaly, Median cleft palate, Bifid nose, Cleft maxillary alveolar ridge, Median cleft upper lip OMIM:619452
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Retinal degeneration, Optic disc pallor, Pigmentary retinopathy ORPHA:79264
Momo Syndrome
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Short sternum, Cutis marmorata... OMIM:157980
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Craniolenticulosutural Dysplasia
Thin vermilion border, Wide nose, Delayed eruption of teeth, Premature loss of teeth, High palate... ORPHA:50814
Zechi-Ceide Syndrome
Thin vermilion border, Atrial septal defect, Short metatarsal, Short philtrum, Wide nose, Sandal ... ORPHA:217017
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplastic female external genitalia, Hydrocephalus, Ulnar deviation of the wrist, Agenesis of c... OMIM:618577
Congenital Heart Defects And Ectodermal Dysplasia
2-3 toe cutaneous syndactyly, Widely spaced teeth, Atrioventricular canal defect, Anteverted nare... OMIM:617364
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
Loeys-Dietz Syndrome 5
Retrognathia, Flexion contracture of toe, Congenital finger flexion contractures, Arachnodactyly,... OMIM:615582
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Dislocated radial head, Cutis marmorata, Malrotation of colon, Long ... OMIM:122470
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:610743
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal palate morphology, Abnormal metacarpal morphology, Choanal atresia, Hypoplasia of the ma... ORPHA:93262
Split Lower Lip
Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition, Narrow maxilla OMIM:183400
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Abnormal palate morphology, Abnormal fibula morphology, Abnormal femur morphology,... ORPHA:2063
Oculocerebrofacial Syndrome, Kaufman Type
Retrognathia, Thin vermilion border, High, narrow palate, Short philtrum, Respiratory distress, D... ORPHA:2707
Multiple System Atrophy
Female anorgasmia, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic e... ORPHA:102
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Depressed nasal ridge, Delayed eruption of teeth ORPHA:1816
Trisomy 8Q
Orofacial cleft, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, My... ORPHA:1752
3M Syndrome
Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5... ORPHA:2616
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Respiratory distress, Abnormality of the philtrum, Dyspnea, Choan... ORPHA:2759
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Dandy-Walker malformation, Hydrocephalus, Agenesis of corpus callosum, Ventri... OMIM:613153
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Craniofacial hyp... ORPHA:2484
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Acrofacial Dysostosis 1, Nager Type
Retrognathia, Radial deviation of finger, Temporomandibular joint ankylosis, Wide mouth, Absent t... OMIM:154400
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Agenesis of corpus callosum OMIM:619301
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Ventriculomegaly, Flexion contracture, Abnormal autonomic nervous system physiology OMIM:616683
Short Stature, Dauber-Argente Type
Delayed eruption of teeth, Decreased fibular diameter, Arachnodactyly, Long fingers, Long toe OMIM:619489
Fetal Alcohol Syndrome
Short nose, Non-midline cleft of the upper lip, Anteverted nares, Microdontia, Micrognathia, Clef... ORPHA:1915
Campomelic Dysplasia
Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Short long bone, Tibial bowing, A... OMIM:114290
Alfadhel Syndrome
Thin vermilion border, Retrognathia, Short philtrum, Nasal flaring, Smooth philtrum, Bulbous nose OMIM:620655
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Colpocep... OMIM:616034
Brachydactyly, Type E2
Short metatarsal, Delayed eruption of teeth, Oligodontia, Short metacarpal, Brachydactyly OMIM:613382
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Camptodactyly of finger... ORPHA:306542
Cleft Lip-Retinopathy Syndrome
Non-midline cleft of the upper lip ORPHA:1995
Orofaciodigital Syndrome I
Radial deviation of finger, Myelomeningocele, Abnormal heart morphology, Syndactyly, Tongue nodul... OMIM:311200
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Hydrocephalus, Agenesis of corpus callosum, Umbilical hernia, Cr... ORPHA:380
Short Stature And Facioauriculothoracic Malformations
High palate, Cleft upper lip, Cleft palate, Cervical ribs, Ventricular septal defect OMIM:609654
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Abnormal metacarpal morphology, Glossoptosis, Micrognathia, Cleft palate, Malar flattening, Osteo... ORPHA:166100
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Split foot, Micrognathia, Cleft palate, Malar flattening, Toe syndactyly OMIM:183700
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Broad thumb, Micrognathia, Smooth philtrum, Brachydactyly,...