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Gene: Dph1 MGI:2151233

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

diphthamide biosynthesis 1

Synonyms:

Dph2l1, Ovca1, 4930488F09Rik

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 Dph1 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.

Human diseases associated with Dph1 (2 diseases)
Human diseases predicted to be associated with Dph1 (1051 diseases)

The table below shows human diseases associated to Dph1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome		Relative macrocephaly, Micrognathia, Small hand, Cleft palate, Widely spaced teeth, Camptodactyly...	ORPHA:459061
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1		Natal tooth, Micrognathia	OMIM:616901

The table below shows human diseases predicted to be associated to Dph1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Nuchal Bleb, Familial	Stillbirth, Fetal cystic hygroma, Hydrops fetalis	OMIM:257350
Pierre Robin Sequence With Facial And Digital Anomalies	Micrognathia, Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate...	OMIM:311895
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia	OMIM:261800
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia	OMIM:172880
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft...	ORPHA:3104
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate, Micrognathia	ORPHA:718
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion	OMIM:619462
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Fetal Parvovirus Syndrome	Intrauterine growth retardation, Increased nuchal translucency, Ascites, Hydrops fetalis	ORPHA:295
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Orofaciodigital Syndrome Xviii	Brachydactyly, Sandal gap, Single transverse palmar crease, Accessory oral frenulum, Postaxial po...	OMIM:617927
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Abnormal lung morphology, Cleft palate, Upper limb phocomelia, Stillbirth, Polydactyl...	ORPHA:294975
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Orofaciodigital Syndrome Type 10	Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ...	ORPHA:2756
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Microcephaly, Submucous cleft hard ...	ORPHA:2521
Hydrops Fetalis, Nonimmune	Nonimmune hydrops fetalis, Hydrops fetalis	OMIM:236750
Asbestos Intoxication	Edema, Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular in...	ORPHA:2302
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening	OMIM:183700
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,...	OMIM:620014
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
17Q21.31 Microduplication Syndrome	Toe syndactyly, Sandal gap, Micrognathia, Abnormality of the dentition, Microcephaly, High palate...	ORPHA:217340
Isolated Congenital Hypoglossia/Aglossia	Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Mic...	ORPHA:141152
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Spinal Muscular Atrophy, Type I	Decreased fetal movement, Recurrent respiratory infections, Respiratory insufficiency, Respirator...	OMIM:253300
Meconium Aspiration Syndrome	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Fetal distress, Atelectasis, N...	ORPHA:70588
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Prematur...	ORPHA:70589
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios	OMIM:613124
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Catel-Manzke Syndrome	Camptodactyly of finger, Micrognathia, Metatarsus valgus, Radial deviation of the 2nd finger, Cle...	ORPHA:1388
Achondrogenesis, Type Ib	Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth, Umbilical hernia, Neonat...	OMIM:600972
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Microcephaly, Micrognathia, Preaxial polydactyly, High pa...	OMIM:618142
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Microcephaly, Hi...	ORPHA:3201
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal respiratory distress, Nonimmune hydrops fetalis, Pulmonary hypoplasia, Neonatal death, P...	OMIM:619003
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Polyhydramnios...	ORPHA:1263
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Drumstick terminal phalanges, Thin ve...	OMIM:612938
Cleft Palate-Lateral Synechia Syndrome	Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia	ORPHA:2016
Developmental And Epileptic Encephalopathy 96	Death in infancy, Hydrops fetalis	OMIM:619340
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl...	OMIM:614669
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Short stature, Polyhydramnios, Splenomegaly, Abnormal limb bone morphology, Hydrops fetalis, Apla...	ORPHA:2204
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Acute Interstitial Pneumonia	Nodular pattern on pulmonary HRCT, Crackles, Nonproductive cough, Tachypnea, Decreased DLCO, Peri...	ORPHA:79126
Arthrogryposis, Distal, Type 7	Micrognathia, Metatarsus adductus, Trismus, Deep philtrum, Hip dislocation, Cutaneous syndactyly ...	OMIM:158300
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Lymphopenia, Ground-glass opacification, ...	OMIM:619773
Arthrogryposis, Distal, Type 2E	Microcephaly, Micrognathia, Trismus, Mild microcephaly, Talipes equinovarus, Narrow mouth, Joint ...	OMIM:121070
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Micrognathia, Microcephaly, Abnormality of the humerus, Preaxial hand ...	ORPHA:3098
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Intrauterine growth retardation, Premature birth	OMIM:301021
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Cleft palate, Glossoptosis, Long philtrum, Malar flattening, Abnormal metacarpal mo...	ORPHA:166100
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys...	ORPHA:166016
Arthrogryposis, Distal, Type 1C	Pursed lips, Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ...	OMIM:619110
Orofaciodigital Syndrome Iv	Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Micrognathia, Postaxial polydactyly...	OMIM:258860
Infantile Sialic Acid Storage Disease	Hepatomegaly, Premature birth, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Gingival over...	OMIM:269920
Ritscher-Schinzel Syndrome 2	Relative macrocephaly, Syndactyly, Broad hallux, Intestinal malrotation, Overlapping toe, Protrud...	OMIM:300963
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Premature birth, Edema, Atelectasis, Dyspnea...	OMIM:267450
Achondrogenesis Type 1B	Thickened nuchal skin fold, Severe short stature, Polyhydramnios, Micromelia, Disproportionate sh...	ORPHA:93298
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala...	OMIM:612961
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Congenital Disorder Of Glycosylation, Type Ik	Death in infancy, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Intrauterine grow...	OMIM:608540
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Polyhydramnios, Micromelia, Abnormal carpal morph...	ORPHA:85166
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Single transverse palmar crease, Protruding tongue, Persisten...	OMIM:610253
Chondrodysplasia, Blomstrand Type	Premature birth, Fetal ascites, Polyhydramnios, Micromelia, Squared iliac bones, Flared metaphysi...	OMIM:215045
9q subtelomeric deletion syndrome	Microcephaly, Protruding tongue	DECIPHER:52
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hydrops fetalis	OMIM:276822
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Single transverse palmar crease, Protruding tongue, Prominent crus of heli...	OMIM:617804
Mulibrey Nanism	Hepatomegaly, Dental crowding, Single transverse palmar crease, Short stature, Thickened cortex o...	OMIM:253250
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Hydrops fetalis, Fused teeth, High palate, Microdontia, Synda...	OMIM:614091
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Achondrogenesis Type 1A	Thickened nuchal skin fold, Short palm, Severe short stature, Polyhydramnios, Micromelia, Hydrops...	ORPHA:93299
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Severe short stature, Growth delay, Respiratory failure, Aspiratio...	OMIM:619057
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Bowing of the legs, Hydrops fetalis, Encephalocele, Respiratory insufficiency, Narrow...	ORPHA:1865
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Micrognathia, Central Y-shaped metacarpal...	ORPHA:2754
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Bifid distal phalanx of the thumb, Short distal phalanx of hallux, Partial duplication of the dis...	OMIM:256200
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desq...	OMIM:265120
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br...	ORPHA:1278
Achondrogenesis	Thickened nuchal skin fold, Severe short stature, Polyhydramnios, Micromelia, Hydrops fetalis, Ap...	ORPHA:932
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Protruding tongue, Cessation of head growth, Wide mouth, Widely spaced tee...	ORPHA:98795
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Hamartoma of ...	OMIM:613091
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Protruding tongue, Cessation of head growth, Mild microcephaly, Wide mouth...	ORPHA:411511
Developmental And Epileptic Encephalopathy 80	Tented upper lip vermilion, Protruding tongue, Micrognathia, Tapered finger, Wide mouth, High pal...	OMIM:618580
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Microretrognat...	OMIM:616300
Congenital Arthrogryposis With Anterior Horn Cell Disease	Single transverse palmar crease, Rocker bottom foot, Fetal akinesia sequence, Respiratory insuffi...	OMIM:611890
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Hydrops fetalis, Cleft palate, Radioulnar synostosis, Short middle phalanx of t...	OMIM:616738
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Microcephaly, Micrognathia, Cleft palate, Talipes equinovarus	OMIM:616570
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Decreased fetal movement, Camptodactyly of finger, Cleft palate, Respirator...	OMIM:614399
Hydrolethalus Syndrome 2	Micrognathia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Preaxial foot...	OMIM:614120
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o...	ORPHA:2669
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Robinow Syndrome, Autosomal Recessive 2	Relative macrocephaly, Broad hallux, Cleft soft palate, Sandal gap, Abnormality of the dentition,...	OMIM:618529
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Cleft soft palate, Accessory oral frenulum, Type A brachydactyly, C...	OMIM:620107
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Micrognathia, Whistling appearance, Narrow mouth, Trismus, Elbow fl...	OMIM:277720
Chromosome 22Q11.2 Duplication Syndrome	Velopharyngeal insufficiency, Microcephaly, High palate, Micrognathia	OMIM:608363
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Single transverse palmar crease, Protruding tongue, Microcephaly, Submucous clef...	OMIM:618106
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Macrodontia, Proximal placement of thumb, Protruding tongue, Diastema, Mic...	OMIM:212066
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia, Anhydramnios	OMIM:619887
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Splenomegaly, Chronic pulmonary obstruction, Hydrops fetalis, Chylopericard...	ORPHA:2414
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Micromelia, Micrognathia, Missin...	OMIM:617866
Congenital Myopathy 14	Decreased fetal movement, Death in infancy, Hip contracture, Apnea, Polyhydramnios, Respiratory i...	OMIM:618414
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A...	ORPHA:971
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath...	OMIM:227270
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,...	ORPHA:2902
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Thin upper lip vermilion, Interphalangeal joint contracture of finger, Microcephaly, Preaxial han...	OMIM:606242
Short-Rib Thoracic Dysplasia 12	Edema, Bowing of the legs, Polyhydramnios, Lobulated tongue, Holoprosencephaly, Short palm, Neona...	OMIM:269860
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Abnormal palate morphology...	ORPHA:1277
Cardiomyopathy, Familial Restrictive, 6	Death in infancy, Ascites, Hydrops fetalis	OMIM:619433
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Icf Syndrome	Malabsorption, Micrognathia, Protruding tongue, Macroglossia, Macrocephaly	ORPHA:2268
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Fetal Gaucher Disease	Decreased fetal movement, Pancytopenia, Death in infancy, Fetal akinesia sequence, Abnormality of...	ORPHA:85212
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respiratory failure, I...	ORPHA:1832
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Triangular shaped phalanges of the hand, Short hall...	OMIM:618167
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Long philtrum, Cleft soft p...	OMIM:616331
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Indomethacin Embryofetopathy	Premature birth, Hydrops fetalis, Oligohydramnios	ORPHA:1909
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna...	OMIM:165590
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Fetal akinesia sequence, Long coccyx, Halberd-shaped pelv...	OMIM:156530
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Decreased fetal movement, Polyhydramnios, Hydrops fetalis, Resp...	OMIM:255320
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Malabsorption, Micrognathia, Protruding tongue, Macroglossia, Malar flattening	OMIM:242860
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormal distal phalanx morphology of finger, Abnormality of the hand, Micrognathia, Microcephaly...	ORPHA:1387
Combined Oxidative Phosphorylation Deficiency 40	Death in infancy, Premature birth, Nonimmune hydrops fetalis, Neonatal death, Intrauterine growth...	OMIM:618835
Raine Syndrome	Mandibular prognathia, Natal tooth, Bowing of the long bones, Micromelia, Protruding tongue, Micr...	OMIM:259775
Combined Oxidative Phosphorylation Deficiency 42	Death in infancy, Premature birth, Nonimmune hydrops fetalis, Neonatal death, Intrauterine growth...	OMIM:618839
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Short thumb, Radial club hand, Hypoplasia ...	ORPHA:1972
Down Syndrome	Brachydactyly, Aganglionic megacolon, Sandal gap, Protruding tongue, Abnormality of the dentition...	ORPHA:870
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Sialidosis Type 2	Hepatomegaly, Short stature, Splenomegaly, Dyspnea, Hydrops fetalis, Pedal edema, Umbilical herni...	ORPHA:87876
Hydrops Fetalis	Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Ascites...	ORPHA:1041
Pallister-Hall-Like Syndrome	Median cleft lip, Toe syndactyly, Micromelia, Micrognathia, Microcephaly, Postaxial hand polydact...	OMIM:241800
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Fractured radius, Polyhydramnios, Decreased fibular diameter, Flared metaphysis, Hyd...	OMIM:616897
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Say Syndrome	Ulnar deviation of the 3rd finger, Microcephaly, Micrognathia, Tapered finger, Cleft palate, Shor...	OMIM:181180
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Clef...	OMIM:620269
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Postaxial polydactyly, Cleft palate	OMIM:612913
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ...	OMIM:610913
Achondrogenesis, Type Ii	Broad long bones, Edema, Polyhydramnios, Short tubular bones of the hand, Hypoplastic iliac wing,...	OMIM:200610
Orofaciodigital Syndrome Type 2	Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham...	ORPHA:2751
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Hyperekplexia 4	Respiratory failure, High palate, Talipes equinovarus, Camptodactyly, Umbilical hernia, Adducted ...	OMIM:618011
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Thin vermilio...	ORPHA:2631
Marshall-Smith Syndrome	Bowing of the long bones, Protruding tongue, Gingival overgrowth, Slender long bone, Open mouth, ...	ORPHA:561
X-Linked Intellectual Disability, Siderius Type	Preaxial hand polydactyly, Large hands, Orofacial cleft, Cleft upper lip	ORPHA:85287
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Synostosis of carpal b...	ORPHA:90652
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:602483
Trisomy 4P	Smooth philtrum, Camptodactyly of finger, Microcephaly, Carious teeth, Abnormality of the dentiti...	ORPHA:1738
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Protruding tongue, Abnormal thumb morphology, Everted lower lip vermilion,...	ORPHA:324410
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Broad met...	ORPHA:1540
Nemaline Myopathy 8	Decreased fetal movement, Death in infancy, Polyhydramnios, Fetal akinesia sequence, Respiratory ...	OMIM:615348
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Malar flattening, Clinodactyly	OMIM:615984
Charlie M Syndrome	Finger syndactyly, Micrognathia, Non-midline cleft lip, Split hand, Tooth agenesis, Thin vermilio...	ORPHA:1406
Immunodeficiency 54	Recurrent respiratory infections, Hepatomegaly, Short stature, Postnatal growth retardation, Sple...	OMIM:609981
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Hand muscle atrophy, Short stature, Respiratory failure, Tongue fasciculations, Hypoplasia of the...	OMIM:600561
Congenital Heart Block	Premature birth, Pericardial effusion, Hydrops fetalis, Peripheral edema, Vaginal birth after Cae...	ORPHA:60041
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi...	OMIM:105830
Lethal Congenital Contracture Syndrome 10	Overlapping fingers, Fetal akinesia sequence, Adducted thumb, Hydrops fetalis, Narrow palate, Fem...	OMIM:617022
Endocrine-Cerebroosteodysplasia	Natal tooth, Syndactyly, Median cleft lip, Bowed forearm bones, Bilateral cleft lip, Micromelia, ...	OMIM:612651
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C...	ORPHA:93316
Schneckenbecken Dysplasia	Hypoplastic scapulae, Nonimmune hydrops fetalis, Polyhydramnios, Dumbbell-shaped long bone, Snail...	OMIM:269250
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Micrognathia, Cleft upper lip, Absent thumb, Hypoplasia of the radiu...	OMIM:602418
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Protruding tongue, Diastema, Absent frontal sinuses, Microcephaly, Thick l...	OMIM:301040
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognat...	ORPHA:50945
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Cleft palate, High palate, Polydactyly, Short tibia	OMIM:300484
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Protruding tongue, Cessation of head growth, Mild microcephaly, Wide mouth...	ORPHA:98794
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Auriculocondylar Syndrome 3	Glossoptosis, Retrognathia, Bifid uvula, Micrognathia	OMIM:615706
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Tongue fasciculations, Respiratory insufficiency, Death in childhood	OMIM:616081
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Decreased fetal movement, Death in infancy, Polyhydramnios, Atelectasis, Hi...	OMIM:300219
14Q11.2 Microdeletion Syndrome	Toe clinodactyly, Toe syndactyly, Exaggerated cupid's bow, Micrognathia, Deep philtrum, Everted l...	ORPHA:261120
Infant Acute Respiratory Distress Syndrome	Premature birth, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, H...	ORPHA:70587
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Ring Chromosome 22 Syndrome	Microcephaly, Protruding tongue, 2-3 toe syndactyly, Large hands, Thick vermilion border	ORPHA:1446
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Farber Disease	Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulmona...	ORPHA:333
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Death in infancy, Hydrops fetalis, Fetal akinesia sequence	OMIM:618815
Trisomy 13	Median cleft lip, Abnormality of the dentition, High, narrow palate, Postaxial hand polydactyly, ...	ORPHA:3378
Free Sialic Acid Storage Disease	Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Hydrops fetalis, Abnormality of ski...	ORPHA:834
Transaldolase Deficiency	Edema, Hydrops fetalis, Abnormal respiratory system physiology, Hepatosplenomegaly, Anemia, Cirrh...	ORPHA:101028
Orofaciodigital Syndrome Xvii	Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Central Y-shaped m...	OMIM:617926
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Micromelia, Micrognathia, Dumbbell-shaped long bon...	ORPHA:440354
Greenberg Dysplasia	Micromelia, Polyhydramnios, Abnormal lung lobation, Hydrops fetalis, Tetraphocomelia, Hypoplasia ...	OMIM:215140
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Nonimmune hydrops fetalis, Thrombocytopenia, ...	OMIM:617021
Cleft Palate-Large Ears-Small Head Syndrome	Microcephaly, Micrognathia, Gingival overgrowth, Cleft palate, Ulnar deviation of finger, Short d...	ORPHA:2013
Arthrogryposis Multiplex Congenita 6	Decreased fetal movement, Death in infancy, Polyhydramnios, Respiratory failure, Death in childho...	OMIM:619334
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Femoral retroversion, Micrognathia, Talipes equinovarus, Ov...	OMIM:616531
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly, Short stature, Delayed puberty	ORPHA:141333
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormality of the philtrum, Aplasia/Hypo...	ORPHA:2759
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta	ORPHA:64754
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micrognathia, Microcephal...	OMIM:600325
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachyp...	ORPHA:36238
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognathia, Flat ca...	OMIM:147891
Hamel Cerebro-Palato-Cardiac Syndrome	Arachnodactyly, Microcephaly, Micrognathia, Cleft palate, Narrow mouth, Malar flattening	ORPHA:93946
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Polyhydramnios, Protruding tongue, ...	OMIM:200600
Joubert Syndrome 18	Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Cleft palate, Lobulated tongue, ...	OMIM:614815
Fibrochondrogenesis 1	Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Rhizom...	OMIM:228520
Hemochromatosis, Neonatal	Intrauterine growth retardation, Nonimmune hydrops fetalis, Oligohydramnios	OMIM:231100
Congenital Enterovirus Infection	Respiratory distress, Decreased fetal movement, Abnormal macrophage morphology, Premature birth, ...	ORPHA:292
Neuropathy, Congenital Hypomyelinating, 3	Decreased fetal movement, Polyhydramnios, Gingival overgrowth, Narrow palate, Respiratory insuffi...	OMIM:618186
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Intestinal malrotation, Micrognathia, Carious teeth, Microcephaly, Talo...	OMIM:613684
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Alg8-Cdg	Elevated hepatic transaminase, Premature birth, Edema, Hydrops fetalis, Oligohydramnios, Anemia, ...	ORPHA:79325
Congenital Disorder Of Glycosylation, Type Iie	Protruding tongue, Micrognathia, Progressive microcephaly, Thick vermilion border, Narrow mouth, ...	OMIM:608779
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Polyhydramnios, Neonatal death, Hepatomegaly, Premature birth, Nonim...	OMIM:608013
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence	OMIM:300717
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Schilbach-Rott Syndrome	Microcephaly, Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger...	OMIM:164220
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
C1Q Deficiency 2	Atelectasis, Bronchiectasis, Oral ulcer, Recurrent lower respiratory tract infections, Anemia	OMIM:620321
Klippel-Trénaunay Syndrome	Hepatomegaly, Edema, Microcytic anemia, Pulmonary embolism, Hydrops fetalis, Upper limb asymmetry...	ORPHA:90308
Treacher Collins Syndrome 4	Malar flattening, Microcephaly, Cleft palate, Micrognathia	OMIM:618939
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Microcephaly, Cleft palate, Orofacial cleft, Widely-space...	OMIM:601349
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Diffuse Neonatal Hemangiomatosis	Ascites, Premature birth, Hydrops fetalis, Polyhydramnios	ORPHA:2123
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Syndactyly, Mild postnatal growth retardation, Anisocytosis, A...	OMIM:224120
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Micrognathia, P...	OMIM:214100
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Broad palm, Macrocep...	OMIM:300602
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Split foot, Cutan...	DECIPHER:46
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
2Q32Q33 Microdeletion Syndrome	Broad hallux phalanx, Toe clinodactyly, Dental crowding, Arachnodactyly, Micrognathia, Microcepha...	ORPHA:251019
Mosaic Trisomy 9	Intestinal malrotation, Spina bifida, Micromelia, Asplenia, Elbow dislocation, Rocker bottom foot...	ORPHA:99776
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Microcephaly, Micrognathia, Short foot, High palate, Joint contracture of the 5th finger, Clinoda...	OMIM:248910
Waardenburg Syndrome Type 3	Tented upper lip vermilion, Camptodactyly of finger, Atelectasis, Abnormal finger morphology, Cut...	ORPHA:896
Orofaciodigital Syndrome Iii	Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyly, Shor...	OMIM:258850
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Tapered finger, R...	OMIM:313420
Congenital Velopharyngeal Incompetence	Velopharyngeal insufficiency, Abnormal palate morphology	ORPHA:2291
Idiopathic Pulmonary Hemosiderosis	Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Crack...	ORPHA:99931
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Abnormality of the liver, Respiratory failure	ORPHA:132
Hypoglossia-Hypodactylia	Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia	OMIM:103300
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi...	OMIM:114300
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ...	OMIM:192445
Stickler Syndrome, Type Ii	Arachnodactyly, Micrognathia, High, narrow palate, Long fingers, Pierre-Robin sequence, Cleft pal...	OMIM:604841
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Decreased fetal movement, Hip dislocation, Elbow flexion contracture, Respiratory failu...	ORPHA:75840
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Microretrognathia, Hip contracture, Micrognathia, Carious teeth, Coxa valg...	OMIM:618363
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Premature birth, Nonimmune hydrops fetalis	OMIM:618838
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ...	ORPHA:2928
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polyhydramnios, Hamartoma of tongue, Accessory oral frenulum, Micromelia, Aplastic clavicle, Post...	OMIM:616546
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Microcephaly, Micrognath...	OMIM:617062
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrocephalus, Hydrops fetalis, Anemia, Oligoh...	ORPHA:163596
Coffin-Siris Syndrome 11	Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of mouth, Wide mouth, High ...	OMIM:618779
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia...	ORPHA:989
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Decreased fetal movement, Congenital hip dislocation, Femur fracture, Single trans...	OMIM:618291
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Split hand, Cleft palate, High palate, Narrow mouth...	OMIM:246560
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Relative macrocephaly, Dental crowding, Upper limb asymmetry, High palate, Polydactyly, Clinodact...	ORPHA:231140
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Hepatomegaly, Crackles, Ground-glass opacification, Atelectasis, Leukoc...	OMIM:620233
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Micrognathia, Cleft palate, Orofacial cleft, Coxa vara, Ab...	ORPHA:1988
Vacterl Association With Hydrocephalus	Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Respiratory insufficiency, Re...	OMIM:276950
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth...	OMIM:619751
Bronchogenic Cyst	Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog...	ORPHA:2357
Birk-Barel Syndrome	Microretrognathia, Tented upper lip vermilion, Single transverse palmar crease, High palate, Shor...	OMIM:612292
Mucopolysaccharidosis, Type Vii	Hydrops fetalis, Widely spaced teeth, Narrow greater sciatic notch, Large iliac wing, Proximal ta...	OMIM:253220
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Accessory oral f...	OMIM:277170
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu...	OMIM:263000
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger,...	OMIM:601680
Campomelia, Cumming Type	Hepatomegaly, Death in infancy, Bowing of the long bones, Micromelia, Lymphedema, Pancreatic cyst...	ORPHA:1318
Fetal Akinesia Deformation Sequence 1	Polyhydramnios, Fetal akinesia sequence, High, narrow palate, High palate, Wrist flexion contract...	OMIM:208150
Ceroid Lipofuscinosis, Neuronal, 10	Apnea, Split hand, Respiratory insufficiency, Respiratory failure, Neonatal death	OMIM:610127
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Elevated circulating aspartate aminotransferase ...	OMIM:245400
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Abnormal pleura morphology, Lymphedema, Metatarsus adductus, Sp...	ORPHA:584
Congenital Sialidosis Type 2	Macrocephaly, Polydactyly, Gingival overgrowth, Protruding tongue	ORPHA:93400
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Lymphedema, Periorbital edema, Rectal prolapse, Conical inciso...	OMIM:235510
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Seckel Syndrome 2	Microcephaly, Micrognathia, Clinodactyly of the 5th finger, Microdontia, Microglossia	OMIM:606744
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Decreased fetal movement, Neonatal respiratory distress, Premature birth, Polyhydramnios, Respira...	OMIM:616867
Atelosteogenesis, Type Ii	Sandal gap, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around chondrocytes, Cleft pal...	OMIM:256050
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Cleft...	OMIM:614078
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, High, narrow palate, Ab...	ORPHA:2879
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth re...	OMIM:620326
Brachycephaly, Trichomegaly, And Developmental Delay	Single transverse palmar crease, Microcephaly, Supernumerary tooth, Submucous cleft hard palate, ...	OMIM:617412
Glycogen Storage Disease Iv	Decreased fetal movement, Portal hypertension, Edema, Polyhydramnios, Esophageal varix, Hydrops f...	OMIM:232500
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Orofaciodigital Syndrome Xv	Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe...	OMIM:617127
Acute Lung Injury	Respiratory distress, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal...	ORPHA:178320
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Coxa valga, Gingival overgrowth, Hypoplastic vertebral bodies, Narrow mouth, L...	OMIM:230600
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Micrognathia, Calcaneovalgus ...	OMIM:615065
Braddock-Carey Syndrome 2	Microcephaly, Pierre-Robin sequence, Cleft palate, Wide mouth, Clinodactyly, Retrognathia	OMIM:619981
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure, Polyhydramnios	OMIM:225753
Avian Influenza	Elevated hepatic transaminase, Respiratory distress, Miscarriage, Pneumonia, Ground-glass opacifi...	ORPHA:454836
Combined Oxidative Phosphorylation Deficiency 28	Decreased fetal movement, Respiratory failure, Polyhydramnios	OMIM:616794
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Single transverse palmar crease, Micrognathia, Clinodactyly, Pierre-Rob...	OMIM:613604
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Short stature, Polyhydramnios, Postaxial polydactyly, Preaxial polydactyly, Femoral b...	OMIM:615503
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g...	OMIM:265300
Multiple Pterygium Syndrome, Escobar Variant	Hydrops fetalis, Downturned corners of mouth, High palate, Camptodactyly of toe, Dislocated radia...	OMIM:265000
Trisomy 1Q	Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Polyhydramnios, Preaxial hand polydactyl...	ORPHA:261344
Adducted Thumbs Syndrome	Microcephaly, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate	OMIM:201550
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Single umbilical artery, Hydrops fetalis, Polyhydramnios	ORPHA:3405
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Short stature, Polydactyly, Bronchiolitis	OMIM:615993
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation...	OMIM:108721
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Overlapping toe, Protruding tongue, Microcephaly, De...	ORPHA:99843
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Joubert Syndrome 1	Microcephaly, Protruding tongue, Postaxial hand polydactyly, Postaxial foot polydactyly, Macroglo...	OMIM:213300
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Micrognathia, Cleft lip, Postaxial pol...	OMIM:617925
Shox-Related Short Stature	Micrognathia, Madelung deformity, Genu valgum, Short foot, Tibial bowing, High palate, Forearm un...	ORPHA:314795
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Single transverse palmar crease, Protruding tongue, Micrognathia, Bil...	OMIM:619777
Microcephaly 26, Primary, Autosomal Dominant	Long philtrum, Microcephaly, Gingival overgrowth, Protruding tongue	OMIM:619179
Pyruvate Kinase Deficiency Of Red Cells	Decreased hemoglobin concentration, Reticulocytosis, Hepatomegaly, Nonimmune hydrops fetalis, Red...	OMIM:266200
Intermediate Nemaline Myopathy	Decreased fetal movement, Premature birth, Polyhydramnios, High, narrow palate, Respiratory failu...	ORPHA:171433
Neuraminidase Deficiency	Hepatomegaly, Short stature, Bone-marrow foam cells, Facial edema, Splenomegaly, Vacuolated lymph...	OMIM:256550
Epilepsy, Progressive Myoclonic, 9	Short thumb, Microglossia	OMIM:616540
Multiple Mitochondrial Dysfunctions Syndrome 3	Polyhydramnios, Respiratory insufficiency, Respiratory failure, High palate, Intrauterine growth ...	OMIM:615330
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Micrognathia, Microcephaly, Preaxial polydactyly, Cleft ...	OMIM:243605
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Epiphyseal stippling	OMIM:614876
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Microcephaly, Micrognathia, Cleft pala...	OMIM:618356
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Macroglossia, Short long bone, Flared elbow metaphyses, Limb undergrowth	ORPHA:1423
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Micrognathia, Bilateral cleft lip and palate, Clinodactyly of the 5th fin...	ORPHA:2001
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Microcephaly, Cl...	OMIM:615948
Lujan-Fryns Syndrome	Dental crowding, Arachnodactyly, Camptodactyly of finger, Micrognathia, Abnormality of the dentit...	ORPHA:776
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Proximal upper limb muscle hypertrophy, Pulmonary fibrosis, Bronchiolitis, Exertiona...	ORPHA:254361
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia...	OMIM:617895
Long Qt Syndrome 3	Nonimmune hydrops fetalis, Hydrops fetalis	OMIM:603830
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Hepatomegaly, Camptodactyly of finger, Wide mouth, Growth delay, Respiratory fa...	ORPHA:1194
Sandestig-Stefanova Syndrome	Decreased fetal movement, Rocker bottom foot, Orofacial cleft, Respiratory failure, High palate, ...	OMIM:618804
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap, Hamartoma of tongu...	OMIM:174300
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Neonatal death, Polyhydramnios, Fetal akinesia sequence	OMIM:619602
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, ...	OMIM:618278
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thu...	ORPHA:1120
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Respiratory failure, Ascites	ORPHA:890
Gm1 Gangliosidosis Type 1	Hydrops fetalis, Gingival overgrowth, Hepatosplenomegaly, Macroglossia, Flattened femoral head, F...	ORPHA:79255
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
W Syndrome	Hypoplasia of the ulna, Radial bowing, Elbow dislocation, Metatarsus adductus, Clinodactyly, Subm...	ORPHA:2804
Hydrolethalus	Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous cleft hard palate, Cleft palate, ...	ORPHA:2189
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f...	OMIM:608670
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Microcephaly, Submucous cleft hard palate, Bifid uvula, Absent thumb	OMIM:619239
Acropectorovertebral Dysplasia	Finger syndactyly, Tarsal synostosis, Camptodactyly of finger, High, narrow palate, Cleft palate,...	ORPHA:957
Tetraamelia Syndrome 2	Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Amelia, Ankylog...	OMIM:618021
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta...	OMIM:608647
Developmental And Epileptic Encephalopathy 31B	Secondary microcephaly, Gingival overgrowth, Protruding tongue	OMIM:620352
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,...	ORPHA:449280
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Hip dislocation, Respiratory insufficiency, Pigmentary retinopa...	ORPHA:370968
Hennekam Syndrome	Mild postnatal growth retardation, Abnormal oral mucosa morphology, Lymphedema, Hydrops fetalis, ...	ORPHA:2136
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Preaxial hand...	OMIM:263520
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Metaphyseal widening, High palate, Microdontia, Arachnodactyly, Repeated pn...	ORPHA:536467
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea, Hydrops fetalis, Fetal distress	ORPHA:45452
Joubert Syndrome 10	Deep philtrum, Thick vermilion border, Postaxial polydactyly, Macrocephaly	OMIM:300804
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Wide mouth, Gingival overgrowth, Protruding tongue	OMIM:618797
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Clef...	ORPHA:79113
Suleiman-El-Hattab Syndrome	Microretrognathia, Thin upper lip vermilion, Single transverse palmar crease, Microcephaly, Thick...	OMIM:618950
Seckel Syndrome 5	11 pairs of ribs, Selective tooth agenesis, Micrognathia, Microcephaly, Cleft palate, Oligodontia...	OMIM:613823
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Trismus, Submucous cleft hard palate, Short distal phalanx of ...	OMIM:609166
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, High i...	ORPHA:2780
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Micrognathia, Microcephaly, Delayed eruption of permanent teeth, Nar...	OMIM:619356
Fraser Syndrome 3	Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Short toe, Hydrocephalus, Ab...	OMIM:617667
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Tongue atrophy, Talipes equinovarus, Upper limb amyotrophy	ORPHA:496689
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Nonimmune hydrops fetalis, Por...	ORPHA:367
Hypoglossia With Situs Inversus	Micrognathia, High palate, Hypodontia, Narrow mouth, Microglossia	OMIM:612776
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the tongue, Micrognathia, Microcephaly, Pierre-Robin sequence, Aplasia of t...	ORPHA:1358
Tetraploidy	Microcephaly, Micrognathia, Radial club hand, Cleft palate, Short philtrum, Biparietal narrowing	ORPHA:3305
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites	ORPHA:69735
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Absent forearm, Overlapping toe, Single transverse palmar crease, Micrognathia,...	OMIM:201170
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand...	OMIM:175700
Gm1 Gangliosidosis	Recurrent respiratory infections, Short stature, Camptodactyly of finger, Premature birth, Narrow...	ORPHA:354
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pierre-Robin sequence, Hypoplastic distal segments of scapulae, Cleft palate, Micrognathia	OMIM:602196
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue	OMIM:614325
Trisomy 8Q	Camptodactyly of finger, Micrognathia, Non-midline cleft lip, Cleft palate, Orofacial cleft, Deep...	ORPHA:1752
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Syndactyly, Brachydactyly, Intestinal malrotation, Single transverse pa...	OMIM:614701
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Microcephaly, Elbow dislocation, Submucous cleft hard pa...	OMIM:613805
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Micrognathia, Carious teeth, Flared metaphysis, Hypoplastic pubic bone, Glossoptosis, Short long ...	ORPHA:93346
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Premature birth, Pneumonia, Polyhydramnios, Limited elbow movement, Limited...	OMIM:617809
Kleefstra Syndrome Due To 9Q34 Microdeletion	Microcephaly, Protruding tongue, Downturned corners of mouth, Macroglossia, Everted lower lip ver...	ORPHA:96147
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ...	OMIM:309580
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, Abnormal tongue physiology, Microcephaly, Wide mouth, Thin vermilion borde...	ORPHA:544254
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High p...	ORPHA:93307
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Non-midline cleft lip, Cleft palate, ...	ORPHA:2549
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Decreased fetal movement, Premature birth, Camptodactyly of finger, Tachypnea, Respiratory failur...	OMIM:604320
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Polysyndactyly of hallux, Aganglionic megacolon	OMIM:235750
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ...	OMIM:201000
Bardet-Biedl Syndrome 4	Syndactyly, Brachydactyly, Polydactyly, Abnormality of the dentition	OMIM:615982
Angelman Syndrome	Mandibular prognathia, Microcephaly, Protruding tongue, Wide mouth, Widely spaced teeth	ORPHA:72
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cleft soft palate, Micrognathia, Cutaneous fi...	OMIM:606851
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in...	ORPHA:60025
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Dental crowding, Sandal gap, Postaxial polydactyly, Micrognathia, Downt...	OMIM:615761
Acalvaria	Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Abnormal lung lobation, Cleft palate, Ho...	ORPHA:945
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars...	OMIM:617102
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Temtamy Preaxial Brachydactyly Syndrome	Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D...	OMIM:605282
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn...	ORPHA:288
Lymphatic Malformation 1	Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis	OMIM:153100
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Microcephaly, Protruding tongue	OMIM:619580
Combined Oxidative Phosphorylation Defect Type 27	Nonimmune hydrops fetalis	ORPHA:477774
Thanatophoric Dysplasia, Type I	Champagne cork sign, Polyhydramnios, Femoral bowing, Neonatal death, Neonatal respiratory distres...	OMIM:187600
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Adducted thumb, Ulnar deviation of...	ORPHA:1147
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placemen...	ORPHA:435638
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb	ORPHA:2091
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Hyd...	OMIM:609015
Radio-Renal Syndrome	Respiratory distress, Severe short stature, Micromelia, High, narrow palate, Dyspnea, Hypoplasia ...	ORPHA:3015
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol...	ORPHA:3429
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Clin...	OMIM:117650
Hypertelorism, Microtia, Facial Clefting Syndrome	Micrognathia, Cleft upper lip, Microcephaly, 2-3 toe syndactyly, Cleft palate, Small thenar emine...	OMIM:239800
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Decreased fetal movement, Tented upper lip vermilion, Pneumonia...	ORPHA:98905
Cranioectodermal Dysplasia 2	Cholangitis, Polyhydramnios, Hydrops fetalis, Fused teeth, High palate, Widely spaced teeth, Micr...	OMIM:613610
Silver-Russell Syndrome Due To A Point Mutation	Relative macrocephaly, Syndactyly, Micrognathia, Cleft palate, Short 5th finger, Polydactyly, Ect...	ORPHA:397590
Hartnup Disorder	Glossitis	OMIM:234500
Niemann-Pick Disease, Type C2	Hepatomegaly, Death in infancy, Neonatal respiratory distress, Bone-marrow foam cells, Polyhydram...	OMIM:607625
Duane-Radial Ray Syndrome	Hypoplasia of the ulna, Anal stenosis, Short humerus, Aganglionic megacolon, Syndactyly, Radial d...	OMIM:607323
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Micrognathia, Metatarsus adductus, High, narrow palate, Short th...	ORPHA:436003
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Respiratory failure, Cli...	ORPHA:158687
Pelger-Huet Anomaly	Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Macrocephaly, Polydact...	OMIM:169400
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Clinodactyly, Flattened epiphysis, Genu valgum, Polydactyly...	OMIM:607131
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Triceps weakness, Weakness of long finger extensor muscles, Re...	ORPHA:98913
Acromelic Frontonasal Dysostosis	Syndactyly, Cleft upper lip, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia...	OMIM:603671
Lambotte Syndrome	Microcephaly, Retrognathia, Preaxial foot polydactyly, Narrow mouth	OMIM:245552
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Hepatomegaly, Scapular winging, Tented upper lip vermilion, Dental crowding...	OMIM:620369
Combined Oxidative Phosphorylation Deficiency 57	Death in infancy, Apnea, Central hypoventilation, Nonimmune hydrops fetalis, Fetal pleural effusi...	OMIM:620167
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Shoulder girdle muscle weakness	OMIM:604801
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Death in infancy, Sandal gap, Single transverse palmar crease, Periorbital edem...	OMIM:613177
Mandibulofacial Dysostosis, Guion-Almeida Type	Proximal placement of thumb, Micrognathia, Microcephaly, Esophageal atresia, Deep philtrum, Preax...	OMIM:610536
Cholestasis, Progressive Familial Intrahepatic, 5	Death in infancy, Elevated circulating aspartate aminotransferase concentration, Nonimmune hydrop...	OMIM:617049
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Aplasia/Hypoplasia of the tong...	ORPHA:570
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Micrognathia, Carious teeth, Narrow mouth, Trismus, Tapered finger, Elbow flexion con...	OMIM:272430
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint...	OMIM:603543
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Micrognathia...	ORPHA:1427
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Syndactyly, Camptodactyly of...	ORPHA:2839
Juvenile Sialidosis Type 2	Gingival overgrowth, Protruding tongue	ORPHA:93399
Isotretinoin Syndrome	Biparietal narrowing, Cleft palate, Micrognathia	ORPHA:2305
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence, Primary microcephaly, Clinoda...	OMIM:620183
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Micrognathia, Bowing of the l...	OMIM:613849
Alg9-Cdg	Villous atrophy, Abnormal lung lobation, Hydrops fetalis, Narrow greater sciatic notch, Bifid uvu...	ORPHA:79328
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Micrognathia, Crowded maxillary incisors, Abnormal femur morphology, Narrow palate, Abnormal fibu...	ORPHA:2063
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Macrocephaly, Polydactyly, Microcephaly	OMIM:617119
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Microcephaly, Hypoplasia of the maxilla, ...	ORPHA:178303
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening	OMIM:241310
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev...	ORPHA:70578
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Hepatomegaly, Abnormal neutrophil count, Lymphedema, Splenomega...	ORPHA:3226
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal fing...	ORPHA:2980
Chromosome 3Pter-P25 Deletion Syndrome	Thin upper lip vermilion, Overlapping toe, Postaxial polydactyly, Micrognathia, Microcephaly, Tap...	OMIM:613792
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Death in infancy, Polyhydramnios, Respiratory failure, Stillbirth, Tongue fascicula...	OMIM:614922
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Metaphyseal widening, Respiratory insufficiency, Abnormality of the ...	OMIM:135100
Severe Congenital Nemaline Myopathy	Decreased fetal movement, Premature birth, Polyhydramnios, Edema of the dorsum of hands, Breech p...	ORPHA:171430
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Abnormality of the dentition, Hydrops fetalis, Growth delay, Abnor...	ORPHA:88618
Down Syndrome	Aganglionic megacolon, Single transverse palmar crease, Sandal gap, Protruding tongue, Hypoplasti...	OMIM:190685
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Recurrent respiratory infections, Postaxial polydactyly, Polyhydramnios, Respiratory insufficienc...	OMIM:615633
3Mc Syndrome 3	Cleft upper lip, Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clinodactyly	OMIM:248340
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly	OMIM:604757
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Conical tooth, M...	ORPHA:1071
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Thrombocytopenia, Leukoc...	OMIM:259720
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Premature birth, Nonimmune hydrops fetalis, Respiratory in...	OMIM:166210
Mucopolysaccharidosis, Type Ix	Finger joint hypermobility, Submucous cleft hard palate, Bifid uvula, Acetabular erosions	OMIM:601492
Oculomaxillofacial Dysostosis	Median cleft lip, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Abnormality ...	ORPHA:1794
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Breech presentation, Wide ...	OMIM:616482
X-Linked Dystonia-Parkinsonism	Protruding tongue	ORPHA:53351
Meckel Syndrome, Type 3	Occipital encephalocele, Hepatomegaly, Malformation of the hepatic ductal plate, Postaxial hand p...	OMIM:607361
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Arachnodactyly, High, narrow palate, Dyspnea, Wide mouth, Abnormal upper li...	ORPHA:2707
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Nonimmune hydrops fetalis, Cleft palate, Slender long bone, Brachydactyly	OMIM:618265
Meckel Syndrome, Type 8	Microcephaly, Cleft upper lip, Cleft palate, Polydactyly, Talipes equinovarus	OMIM:613885
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Diastema, Hypoplasia of the maxilla, Postaxial polydactyl...	OMIM:619142
Gm1-Gangliosidosis, Type I	Hepatomegaly, Death in infancy, Severe short stature, Splenomegaly, Vacuolated lymphocytes, Gingi...	OMIM:230500
Lymphatic Malformation 6	Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Per...	OMIM:616843
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Death in infancy, Respiratory distress, R...	OMIM:615512
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Polyhydramnios, Microvesicular hepatic steatosis, Hydrops fetalis, Downturned corners of mouth, A...	OMIM:300868
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Rhizomelia, Micrognathia, Microcephaly, Submucous cleft hard palate, Epiphyseal st...	OMIM:222765
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Eosinophilia, Abnormality of the den...	ORPHA:2314
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Long toe, Tapered toe, Elevated ci...	OMIM:608836
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Cleft soft palate, Deep palmar crease, Short philtrum, Primary microcephaly, Retrognathia, Smooth...	ORPHA:293725
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Exaggerated cupid's bow, Single transverse palmar crease, Polyhydramnios, Overlapping t...	ORPHA:254528
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Maternal Uniparental Disomy Of Chromosome 2	Neonatal respiratory distress, Premature birth, Miscarriage, Postnatal growth retardation, Preaxi...	ORPHA:96179
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Micrognathia, Deep philt...	ORPHA:404440
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Single transverse palmar crease, Micrognathia, Microcephaly, Cleft...	OMIM:618348
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Elevated circulating aspartate aminotransferase concentration, Elevated circula...	OMIM:619386
Johnson Neuroectodermal Syndrome	Microcephaly, Carious teeth, Preaxial hand polydactyly, Cleft palate, Hand polydactyly, Everted l...	ORPHA:2316
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Patellar a...	ORPHA:3329
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Orofaciodigital Syndrome Type 1	Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, A...	ORPHA:2750
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Ch...	OMIM:244400
Biemond Syndrome Ii	Preaxial hand polydactyly, Hydrocephalus, Short stature	OMIM:210350
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Microcepha...	OMIM:602471
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the...	ORPHA:193
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Downturned corners...	OMIM:613443
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Polyhydramnios, Hig...	ORPHA:3472
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ...	OMIM:268310
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Brachydactyly, Micrognathia, Diastema, Hypoplasi...	OMIM:300534
Hartsfield Syndrome	Encephalocele, Non-midline cleft lip, Split hand, Respiratory insufficiency, Cleft palate, Lobar ...	ORPHA:2117
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical...	ORPHA:65759
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni...	OMIM:603194
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophagea...	ORPHA:59315
Thanatophoric Dysplasia, Type Ii	Decreased fetal movement, Small abnormally formed scapulae, Polyhydramnios, Micromelia, Hypoplast...	OMIM:187601
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Sideroblastic anemia, Villous atrophy, Pancytopenia, Hepatomegaly,...	OMIM:557000
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Areflexia of upper limbs, Tongue atrophy, Talipes equinovarus	OMIM:616155
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Narrow palate, Biparietal narrowing, Ab...	ORPHA:1323
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Arachnodactyly, Postaxial polydactyly, Microcephaly, Tapered finger, Genu ...	OMIM:619721
Treacher Collins Syndrome 3	Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia	OMIM:248390
Pycnodysostosis	Delayed eruption of primary teeth, Persistence of primary teeth, Carious teeth, Micrognathia, Abs...	OMIM:265800
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Brachydactyly, Short stature, Micromelia, Split hand, Cleft palate, Aplasia/Hy...	ORPHA:2145
Diamond-Blackfan Anemia	Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Triphalangeal thumb, Neutropen...	ORPHA:124
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Microcephaly, Bilateral cleft lip and palate, High palate, Macrocephaly...	OMIM:618874
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Preaxial hand polydactyly, Foot polydactyly, Macrocephaly, Lymphoid nodular...	ORPHA:210548
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial polydactyly, Hypopla...	OMIM:311900
20P13 Microdeletion Syndrome	Thin upper lip vermilion, Finger syndactyly, Tented upper lip vermilion, Microcephaly, Polydactyl...	ORPHA:313781
Congenital Disorder Of Glycosylation, Type Iig	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Rhizomelia, Squared ili...	OMIM:611209
Amish Lethal Microcephaly	Microcephaly, Cleft soft palate, Micrognathia	ORPHA:99742
Vacterl/Vater Association	Occipital encephalocele, Finger syndactyly, Premature birth, Polyhydramnios, Abnormality of the p...	ORPHA:887
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Tented upper lip vermilion, Single transverse palmar crease, Polyhydramnios, Deep philtrum, Tibia...	ORPHA:96334
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp...	ORPHA:56304
Lymphatic Malformation 13	Chronic lung disease, Nonimmune hydrops fetalis, Lymphedema, Fetal pericardial effusion, Single u...	OMIM:620244
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations, Respiratory failure	OMIM:613435
Fontaine Progeroid Syndrome	Mandibular prognathia, Thin upper lip vermilion, Syndactyly, Protruding tongue, Micrognathia, Hig...	OMIM:612289
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue...	ORPHA:958
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Split hand, Apnea, Respiratory failure	ORPHA:168486
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Megaloblastic anemia, Pulmonary embolism, Thrombocytopenia, Jaundice, Hydro...	ORPHA:79282
Bartsocas-Papas Syndrome	Finger syndactyly, Median cleft lip, Toe syndactyly, Aplasia/Hypoplasia of the distal phalanges o...	ORPHA:1234
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Nephrotic Syndrome, Type 11	Arachnodactyly, Micrognathia, Cleft lip, Partial duplication of thumb phalanx, Cleft palate, High...	OMIM:616730
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Carpenter Syndrome 2	Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous ...	OMIM:614976
Hereditary Motor And Sensory Neuropathy, Type Iic	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Short stature, Down-sloping shoulde...	OMIM:606071
Rajab Interstitial Lung Disease With Brain Calcifications 1	Tachypnea, High palate, Cough, Emphysema, Hepatic steatosis, Short stature, Portal hypertension, ...	OMIM:613658
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Severe short stature, Micromelia, Respiratory ...	OMIM:224410
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Obtuse angle of mandible, Micrognathia, Short tubular bones of the hand, Coxa valga, Abnormal dia...	ORPHA:85184
Degcags Syndrome	Micrognathia, High palate, Syndactyly, Hiatus hernia, Short thumb, Thick vermilion border, Retrog...	OMIM:619488
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, ...	ORPHA:245
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Oligohydramnios, Hydrops fetalis, Lymphedema	OMIM:601927
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Macroglossia, Open mouth, Abnormality of the temporomandibular joint, Protruding tongue	ORPHA:258
Lymphangioleiomyomatosis	Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, Pneumothorax, Hydrocephalus, ...	ORPHA:538
Proximal Spinal Muscular Atrophy	Decreased fetal movement, Neonatal respiratory distress, Hypoventilation, Recurrent infections du...	ORPHA:70
Gaucher Disease	Hepatomegaly, Pancytopenia, Death in infancy, Short stature, Splenomegaly, Hydrocephalus, Abnorma...	ORPHA:355
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Pigmentary ...	OMIM:220110
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Aqueductal stenosis, Short tibia, Humeroradial synostosi...	OMIM:251230
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Periportal fibrosis, Postaxial polydactyly	OMIM:213010
Braddock Syndrome	Neonatal respiratory distress, Short stature, Preaxial hand polydactyly, Pulmonary fibrosis, Pulm...	ORPHA:52047
Spondyloepiphyseal Dysplasia Congenita	Short femur, Limited elbow movement, Micrognathia, Upper limb undergrowth, Cleft palate, Flat ace...	ORPHA:94068
Loeys-Dietz Syndrome 5	Scapular winging, Tented upper lip vermilion, Arachnodactyly, Cleft soft palate, Eosinophilic inf...	OMIM:615582
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle...	ORPHA:246
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa...	ORPHA:1106
Agnathia-Otocephaly Complex	Micrognathia, Aglossia, Cleft palate, Narrow mouth, Mandibular aplasia, Microglossia	OMIM:202650
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Cleft palate, Pos...	OMIM:614175
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cle...	OMIM:619122
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Hepatic steatosis, Decreased liver function, Respiratory failure	ORPHA:70472
22Q11.2 Deletion Syndrome	Polyhydramnios, Abnormal lung lobation, Short philtrum, Hypoplasia of the thymus, Arachnodactyly,...	ORPHA:567
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Respiratory distress, Crackles, Facial edema, Atelectasis, Leukocy...	ORPHA:319213
Oculocerebrorenal Syndrome Of Lowe	Dental crowding, Deep philtrum, Gingivitis, Dehydration, Periodontitis, Death in infancy, Short s...	ORPHA:534
Facioscapulohumeral Muscular Dystrophy 1	Scapular winging, Tongue atrophy, Shoulder girdle muscle weakness	OMIM:158900
Gaucher Disease Type 3	Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Pericardial effusion, Splenomegaly,...	ORPHA:77261
Diamond-Blackfan Anemia 6	Micrognathia, Cleft upper lip, Short thumb, Cleft palate, Triphalangeal thumb, Retrognathia, Bifi...	OMIM:612561
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Cleft palate, Aplasia/Hypoplasia o...	ORPHA:2167
Leigh Syndrome	Respiratory insufficiency, Hepatocellular necrosis, Pigmentary retinopathy, Respiratory failure, ...	OMIM:256000
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Dental crowding, 2-3 toe syndactyly, Narrow palate, Hyperplasia...	ORPHA:313892
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Abnormality of the dentition, Micrognathia, Avascular ...	ORPHA:77258
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Small hand, Bilateral cle...	OMIM:619339
Stickler Syndrome, Type I	Arachnodactyly, Micrognathia, Irregular femoral epiphysis, Submucous cleft hard palate, Pierre-Ro...	OMIM:108300
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Microcephaly, Aplasia...	ORPHA:364577
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t...	OMIM:149730
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Decreased fetal movement, Death in infancy, Breech presentation, Respirator...	OMIM:620278
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Postaxial hand polydactyl...	ORPHA:2752
Snakebite Envenomation	Epistaxis, Edema, Angioedema, Respiratory failure, Respiratory paralysis, Gingival bleeding, Thro...	ORPHA:449285
Pearson Syndrome	Hydrops fetalis, Dehydration, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticuloc...	ORPHA:699
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Asthma, Pneumothorax, Tac...	ORPHA:2257
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpal, Ra...	OMIM:304120
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Microcephaly, Micrognathia, Short toe, Preaxial hand p...	OMIM:620072
Feingold Syndrome	Hallux valgus, Brachydactyly, Toe syndactyly, Microcephaly, Micrognathia, Esophageal atresia, Dev...	ORPHA:1305
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ...	ORPHA:2710
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Autoimmune Lymphoproliferative Syndrome	Hydrops fetalis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negat...	ORPHA:3261
Pontocerebellar Hypoplasia, Type 1B	Tongue atrophy, Hip dislocation, Tongue fasciculations, Progressive microcephaly	OMIM:614678
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ...	ORPHA:884
Congenital Myopathy 10B, Mild Variant	Reduced forced vital capacity, Recurrent pneumonia, Cleft palate, Respiratory failure, High palate	OMIM:620249
Buratti-Harel Syndrome	Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Broad thumb...	OMIM:619314
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Micrognathia, Cleft lip, Clinodactyly, Dental malocclusion, Gingival overgrowth, Clef...	OMIM:616894
Pyruvate Dehydrogenase E1-Alpha Deficiency	Apneic episodes precipitated by illness, fatigue, stress, Respiratory failure, Long philtrum	OMIM:312170
Combined Oxidative Phosphorylation Deficiency 4	Intrauterine growth retardation, Respiratory failure, Death in infancy, Hepatomegaly	OMIM:610678
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Finger syndactyly, Tented upper lip vermilion, Exaggerated cupid's bow, Si...	ORPHA:464738
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Progressive macrocephaly, Polydactyly, Smooth philtrum	OMIM:602501
Bent Bone Dysplasia Syndrome 1	Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Short cla...	OMIM:614592
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Short stature, Respiratory failure, Limb undergrowth, Abnormal metap...	ORPHA:1861
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi...	ORPHA:1507
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly, Oligohydramnios	OMIM:615397
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Micrognathia, ...	OMIM:300990
Cronkhite-Canada Syndrome	Intestinal polyposis, Malabsorption, Tapered finger, Hypogeusia, Furrowed tongue, Hamartomatous p...	ORPHA:2930
Myhre Syndrome	Mandibular prognathia, Short palm, Craniofacial hyperostosis, Brachydactyly, Hypoplasia of the ma...	ORPHA:2588
Nephronophthisis 2	Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency, Oligohydramnios	OMIM:602088
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Clinodactyly of the 5th finger, Small proximal tibial epiph...	OMIM:154780
Mitochondrial Complex I Deficiency, Nuclear Type 18	Wide anterior fontanel, Respiratory failure, Death in infancy	OMIM:618240
Bilateral Perisylvian Polymicrogyria	Microcephaly, Micrognathia, Protruding tongue	ORPHA:98889
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Micromelia, Non...	ORPHA:1908
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Hepatomegaly, Death in infancy, Tachypnea, Respiratory insufficiency, Respi...	OMIM:614299
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Polyhydramnios, Asplenia, Abnormal lung lobation, Neonatal death, Neonatal respiratory distress, ...	OMIM:265380
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Tapered f...	ORPHA:488642
Fryns-Smeets-Thiry Syndrome	Arachnodactyly, Micrognathia, Microcephaly, Thick lower lip vermilion, Patellar aplasia, Hip disl...	ORPHA:2058
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Respiratory insufficiency	OMIM:601612
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Death in infancy, Postaxial polydactyl...	OMIM:614576
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Palmoplan...	OMIM:615108
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Orofaciodigital Syndrome Ix	Median cleft lip, Toe syndactyly, Short stature, Accessory oral frenulum, Abnormality of the dent...	OMIM:258865
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Respiratory failure, Hepatic steatosis, Cirrhosis	ORPHA:363400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Macroglossia, Respiratory failure, Shoulder girdle muscle weakness, Restrictive ventilatory defect	OMIM:606612
Mgat2-Cdg	Respiratory distress, Impaired lymphocyte transformation with phytohemagglutinin, Dental crowding...	ORPHA:79329
Mandibuloacral Dysplasia	Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Shor...	ORPHA:2457
Lipoid Proteinosis	Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala...	ORPHA:530
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial...	ORPHA:1553
Native American Myopathy	Micrognathia, Cleft palate, Downturned corners of mouth, High palate, Talipes equinovarus, Campto...	ORPHA:168572
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Micrognathia, Hypoplasia of the maxilla, High, narrow...	ORPHA:2554
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure, Tented upper lip vermilion, Narrow palate, Tapered finger	OMIM:616505
Ulbright-Hodes Syndrome	Respiratory distress, High palate, Phocomelia, Short metacarpal, Humeroradial synostosis, Abnorma...	ORPHA:3404
Polysyndactyly With Cardiac Malformation	Syndactyly, Polyhydramnios, Preaxial hand polydactyly, Duplication of phalanx of hallux, Stillbir...	OMIM:263630
Tibial Muscular Dystrophy	Respiratory failure, Distal upper limb muscle weakness, Weakness of long finger extensor muscles	ORPHA:609
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Hydrops fetalis, Tracheoesophageal fistula, Orofacial cleft, Foot polydactyly, Sho...	ORPHA:268249
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Atelectasis, Splenomegaly, Recurrent pneumonia, Air bronchogram, Imp...	OMIM:306400
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Polyhydramnios, Short metatarsal, Hy...	OMIM:216340
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Pedal edema, Respiratory failure, Paroxysmal dyspnea, Perip...	ORPHA:563
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Premature birth, Thrombocytopenia, Respiratory insufficiency, Leukopenia, Respirato...	OMIM:613845
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac...	ORPHA:51636
Kinsship Syndrome	Mandibular prognathia, Thin upper lip vermilion, Single transverse palmar crease, Micrognathia, M...	OMIM:619297
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Meckel Syndrome, Type 6	Occipital encephalocele, Absent gallbladder, Cleft upper lip, Postaxial hand polydactyly, Bilobed...	OMIM:612284
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Thin upper lip vermilion, Villous atrophy, Hepatomegaly, Death in ...	OMIM:212065
Carey-Fineman-Ziter Syndrome 1	Micrognathia, Microcephaly, Trismus, Tapered finger, Pierre-Robin sequence, Cleft palate, Glossop...	OMIM:254940
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Tongue fasciculations, Congenital laryngeal stridor	ORPHA:2254
Triploidy	Hepatomegaly, Finger syndactyly, Intestinal malrotation, Polyhydramnios, Abnormality of the pancr...	ORPHA:3376
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ...	ORPHA:69085
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Cl...	OMIM:616449
Van Den Ende-Gupta Syndrome	Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:600920
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Camptodactyly of finger, Polyhydramnios, Fetal akinesia sequence, Cleft pa...	ORPHA:994
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Respirato...	ORPHA:308552
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente...	ORPHA:731
Zygomycosis	Sinusitis, Periorbital edema, Acute infectious pneumonia, Air crescent sign, Colitis, Neutropenia...	ORPHA:73263
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Finger syndactyly, Abnormal dental enamel morphology, Aplastic clavicle, H...	ORPHA:2658
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Palmoplan...	OMIM:615109
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Myelopathy, Bradypnea, Respiratory failure, Cervical myelopathy, Death in childhood, Cerebral edema	OMIM:617186
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Single transverse palmar crease, Micrognathi...	OMIM:247200
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micromelia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of the 5th fin...	ORPHA:2636
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Microcephaly, Thick lower lip vermilion, Submucous cleft hard palate, Wide...	OMIM:619103
Catel-Manzke Syndrome	Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Cleft upper lip, M...	OMIM:616145
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Decreased fetal movement, Congenital hip dislocation, Dental cr...	ORPHA:2020
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph...	OMIM:154400
Lelis Syndrome	Mandibular prognathia, Carious teeth, Palmoplantar hyperkeratosis, Furrowed tongue, Hypodontia	ORPHA:140936
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Anemia, Death in childhood	OMIM:615838
Galactosialidosis	Severe short stature, Nonimmune hydrops fetalis	OMIM:256540
Meckel Syndrome 14	Occipital encephalocele, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial h...	OMIM:619879
Fanconi Anemia, Complementation Group D2	Reticulocytopenia, Aplasia of the 1st metacarpal, Abnormality of skin pigmentation, Neutropenia, ...	OMIM:227646
Beaulieu-Boycott-Innes Syndrome	Microcephaly, Carious teeth, Micrognathia, Velopharyngeal insufficiency, Dental malocclusion	OMIM:613680
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Reduced vital capacity, Respiratory failure, Shoulder girdle muscle weakness, N...	OMIM:603689
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema	OMIM:607823
Lethal Congenital Contracture Syndrome 2	Decreased fetal movement, Respiratory failure, Polyhydramnios, Edema	OMIM:607598
Myhre Syndrome	Short philtrum, Hypoplastic iliac wing, Short stature, Pericardial effusion, Cleft lip, Short toe...	OMIM:139210
Niemann-Pick Disease Type C	Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Abnormal lung morphology, Jaun...	ORPHA:646
Joubert Syndrome 7	Central apnea, Encephalocele, Episodic tachypnea, Postaxial polydactyly, Postaxial hand polydacty...	OMIM:611560
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Polyhydramnios, Proximal placement of thumb, Absent radius, Esophageal atresia, Hy...	OMIM:314390
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Short palm, Micromelia, Cleft upper lip, Esophageal atresia, Congenital hepatic fibrosis, Abnorma...	ORPHA:93271
Charcot-Marie-Tooth Disease, Type 4C	Talipes equinovarus, Hammertoe, Tongue atrophy, Tongue fasciculations	OMIM:601596
Desmosterolosis	Intestinal malrotation, Micromelia, Micrognathia, Microcephaly, Metatarsus adductus, Submucous cl...	ORPHA:35107
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Pneumothorax, Growth delay, Respiratory failure, Infection associa...	ORPHA:445038
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Preaxial polydactyly, Intermittent hyperventilation	ORPHA:163681
Campomelic Dysplasia	Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel...	OMIM:114290
Arterial Tortuosity Syndrome	Respiratory distress, Arachnodactyly, Long palm, Rocker bottom foot, Hiatus hernia, Coxa valga, P...	ORPHA:3342
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology, Polydactyly, Hip dysplasia	ORPHA:531151
Alg1-Cdg	Respiratory failure, Protein-losing enteropathy, Decreased liver function	ORPHA:79327
Cleidocranial Dysplasia 1	Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle phalanx of the 2nd finger...	OMIM:119600
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial p...	ORPHA:2886
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Tapered finger, Microcephaly, Submucous cleft hard palate, Downturned c...	OMIM:619680
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala...	ORPHA:3241
Frontorhiny	Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Fi...	ORPHA:391474
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Respiratory failure requiring assisted ventilation, Premature birth, Pericardial ef...	ORPHA:555874
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Esophageal atresia, Short thumb...	OMIM:192350
Distal 22Q11.2 Microdeletion Syndrome	Short palm, Thin upper lip vermilion, Branchial fistula, Toe syndactyly, Arachnodactyly, Bowing o...	ORPHA:261330
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Apnea, Overlapping toe, Hip dislocation, Elbow flexion contracture, Respiratory ...	OMIM:617301
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Polyhydramnios, T lymphocytopenia, Narrow greater sciatic notch, Short ph...	ORPHA:508533
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Cleft upper lip, Clef...	OMIM:153400
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty...	OMIM:614099
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Femoral bowing, Tibial bowing, Smooth tongue, Shor...	OMIM:601559
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmo...	ORPHA:542323
Chromosome 6Q24-Q25 Deletion Syndrome	Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft hard palate, Small han...	OMIM:612863
Orofaciodigital Syndrome Type 14	Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of t...	ORPHA:434179
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Hepatomegaly, Orthopnea, Respiratory tract infection, Atelectasis, Respirat...	ORPHA:365
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Scapular winging, Dyspnea, Wide ...	ORPHA:26791
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Microcephaly, Cleft palate, Femoral bowing, Flared lower...	OMIM:616462
Crane-Heise Syndrome	Finger syndactyly, Hypoplastic scapulae, Toe syndactyly, Aplastic clavicle, Micrognathia, Cleft p...	ORPHA:1512
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Decreased fetal movement, Respiratory failure, Fetal distress	OMIM:620166
Cardiofacioneurodevelopmental Syndrome	Microcephaly, Micrognathia, Cleft lip, Cleft palate, Camptodactyly, Clinodactyly of the 5th finge...	OMIM:619123
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi...	OMIM:619950
Branchio-Oculo-Facial Syndrome	Preaxial hand polydactyly, Deep philtrum, Non-midline cleft lip, Orofacial cleft, Tooth agenesis,...	ORPHA:1297
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Short stat...	ORPHA:209905
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Long philtrum, Syndactyly, Persistence of primary...	ORPHA:97360
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Congenital hip dislocation, Polyhydramnios, F...	ORPHA:496641
Fanconi Anemia, Complementation Group C	Pancytopenia, Hyperpigmentation of the skin, Short stature, Absent thumb, Absent radius, Short th...	OMIM:227645
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Pulmonary lymphangiectasia, Thick vermili...	OMIM:137940
Retinitis Pigmentosa 89	Postaxial polydactyly, Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibr...	OMIM:618955
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Hypoplastic ischia, Microcephaly	OMIM:616910
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abnormal proportion of CD8-...	ORPHA:125
Fanconi Anemia, Complementation Group E	Pancytopenia, Hyperpigmentation of the skin, Short stature, Absent thumb, Absent radius, Short th...	OMIM:600901
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Single transverse palmar crease, Rocker bottom foot, Micrognathia, Po...	OMIM:617527
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Tented upper lip vermilion, Micrognathia, Deep philtrum, Polydactyly, High palate	ORPHA:314655
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ...	ORPHA:3107
Chand Syndrome	Short fifth metatarsal, Atelectasis, Cleft palate, Agenesis of permanent teeth, Abnormal oral fre...	ORPHA:1401
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Proximal muscle weakness in upper limbs, Respiratory failure	OMIM:613954
Ivic Syndrome	Aplastic clavicle, Short thumb, Preaxial hand polydactyly, Hypoplasia of the radius, Radioulnar s...	ORPHA:2307
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Micrognathia, Microcephaly, Cleft lip, Cleft palate, Submucous cleft of...	OMIM:301022
Dubowitz Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Anal stenosis, Toe syndactyly, Sandal...	ORPHA:235
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Short stature, Polyhydramnios, Breech presentation, Respiratory failure, Death in childhood	OMIM:619847
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Microcephaly, Hip dysplasia, Dev...	OMIM:616362
Acromelic Frontonasal Dysplasia	Encephalocele, Median cleft lip, Meningocele, Upper airway obstruction, Patellar hypoplasia, Wide...	ORPHA:1827
Hallermann-Streiff Syndrome	Natal tooth, Abnormality of the dentition, Micrognathia, High, narrow palate, Supernumerary tooth...	ORPHA:2108
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia...	OMIM:619313
Isotretinoin Embryopathy-Like Syndrome	Cleft palate, Micrognathia	OMIM:243440
Fanconi Anemia, Complementation Group A	Pancytopenia, Short stature, Absent thumb, Absent radius, Short thumb, Prolonged G2 phase of cell...	OMIM:227650
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Short femur, Radial bowing, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Hydrolethalus Syndrome 1	Accessory spleen, Median cleft lip, Polyhydramnios, Preaxial hand polydactyly, Postaxial hand pol...	OMIM:236680
Congenital Myopathy 17	Tented upper lip vermilion, Overlapping toe, Polyhydramnios, Fetal akinesia sequence, Respiratory...	OMIM:618975
Trisomy 20P	Smooth philtrum, Finger syndactyly, Camptodactyly of finger, Abnormality of the dentition, Microg...	ORPHA:261318
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Tongue atrophy, Tongue fasciculations, Intrinsic hand muscle atrophy	OMIM:620285
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Recurrent respiratory infections, Anal stenosis, Hemolytic an...	ORPHA:647
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure	ORPHA:352447
Autosomal Dominant Popliteal Pterygium Syndrome	Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Lip pit, Micrognathia, Non-midline c...	ORPHA:1300
Femoral-Facial Syndrome	Short third metatarsal, Thin upper lip vermilion, Short fourth metatarsal, Short humerus, Short f...	OMIM:134780
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Submucous cleft soft palate, Microcephaly, Cleft soft palate, Micrognathia	ORPHA:2282
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis	ORPHA:54028
Atelosteogenesis, Type I	Polyhydramnios, Short metatarsal, Tibial bowing, Neonatal death, Encephalocele, Short metacarpal,...	OMIM:108720
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Thin upper lip vermilion, Hip contracture, Prominent crus of helix, Broad distal phalanx of the t...	OMIM:619194
Meckel Syndrome, Type 1	Occipital encephalocele, Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Malformation o...	OMIM:249000
Velocardiofacial Syndrome	Abnormality of the hand, Microcephaly, Velopharyngeal insufficiency, Submucous cleft hard palate,...	OMIM:192430
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Dehydration	OMIM:602199
Boutonneuse Fever	Elevated hepatic transaminase, Abnormal skin morphology of the palm, Leukopenia, Respiratory fail...	ORPHA:83313
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Microgna...	ORPHA:221120
Treacher-Collins Syndrome	Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip...	ORPHA:861
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Odontogenic keratocysts of the jaw, Down-sloping shoulders, Cleft upper li...	OMIM:109400
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Mitochondrial Trifunctional Protein Deficiency	Equinus calcaneus, Cholestasis, Respiratory insufficiency, Pigmentary retinopathy, Respiratory fa...	ORPHA:746
Neu-Laxova Syndrome	Abnormality of the philtrum, Micromelia, Micrognathia, Microcephaly, Trismus, Submucous cleft har...	ORPHA:2671
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Relative macrocephaly, Hyperextensibility of the finger joints, Syndactyly...	OMIM:151050
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Thick vermilion border, Talipes equinovarus, Cleft palate	ORPHA:250999
Senior-Loken Syndrome 9	Hypoplasia of the femoral head, Cholestasis, Polydactyly, Hepatic fibrosis, Chronic bronchitis	OMIM:616629
Joubert Syndrome 27	Thick lower lip vermilion, Polydactyly	OMIM:617120
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Microcephaly, Short foot, Hand polydactyly, High palate, Ta...	ORPHA:250989
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Hy...	OMIM:611134
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Palmoplan...	OMIM:158350
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A...	OMIM:611561
Pallister-Hall Syndrome	Abnormal lung lobation, Anteriorly placed anus, Holoprosencephaly, Neonatal death, Distal shorten...	OMIM:146510
Branchioskeletogenital Syndrome	Mandibular prognathia, Amelia involving the lower limbs, Unilateral cleft palate, Abnormality of ...	ORPHA:1299
Bardet-Biedl Syndrome 19	Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals	OMIM:615996
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar...	OMIM:154500
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Cardiomyopathy, Familial Hypertrophic, 27	Nonimmune hydrops fetalis	OMIM:618052
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Microcephaly, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Retrogn...	OMIM:619227
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Down-sloping shoulders, Micrognathia, Long fingers, 2-3 toe cutaneous syndactyly, Cleft palate, H...	OMIM:301091
Achard Syndrome	Broad skull, Arachnodactyly, Micrognathia	OMIM:100700
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Cerebrooculonasal Syndrome	Postaxial polydactyly, Postaxial hand polydactyly, Narrow palate, Cleft palate, Downturned corner...	OMIM:605627
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Xerostomia, Abnormal respiratory system physiology	ORPHA:803
Cerebrocostomandibular Syndrome	Microcephaly, Micrognathia, Cleft palate, Glossoptosis, Clinodactyly of the 5th finger, Short har...	ORPHA:1393
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly, Respiratory insufficiency	OMIM:614970
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Pneumonia, Edema, ...	ORPHA:79404
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Submucous cleft hard palate, Bifid uvula, Microcephaly	OMIM:617660
Riddle Syndrome	Short stature, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary ...	ORPHA:420741
Joubert Syndrome 23	Polydactyly, Tachypnea, Apnea	OMIM:616490
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Microcephaly, Preaxial hand polydac...	ORPHA:233
Cardiofaciocutaneous Syndrome 1	Relative macrocephaly, Hyperextensibility of the finger joints, Abnormality of the dentition, Ope...	OMIM:115150
Faciocardiomelic Syndrome	Micrognathia, Microcephaly, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypo...	OMIM:612731
Nephronophthisis 15	Elevated hepatic transaminase, Polydactyly	OMIM:614845
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Relative macrocephaly, Micrognathia, Small hand, Cleft palate, Widely spaced teeth, Camptodactyly...	ORPHA:459061
Bardet-Biedl Syndrome 1	Syndactyly, Aganglionic megacolon, Dental crowding, Postaxial polydactyly, High, narrow palate, P...	OMIM:209900
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip pit, Duplication of thu...	OMIM:601707
Hypomandibular Faciocranial Dysostosis	Aplasia/Hypoplasia of the tongue, Cleft palate, Narrow mouth, Maxillozygomatic hypoplasia, Bifid ...	ORPHA:1790
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Single transverse palmar crease, Micrognathia, Carious tee...	OMIM:223370
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Polydactyly, Tr...	ORPHA:137914
Neu-Laxova Syndrome 1	Polyhydramnios, Swollen lip, Fetal akinesia sequence, Micromelia, Calcaneovalgus deformity, Neona...	OMIM:256520
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Edema of the dorsum of hands, Femoral bowing, Abnormal shoulder morp...	OMIM:274000
Digeorge Syndrome	Short stature, Cholelithiasis, High, narrow palate, Atelectasis, Recurrent pneumonia, Thrombocyto...	OMIM:188400
Combined Oxidative Phosphorylation Deficiency 3	Decreased fetal movement, Death in infancy, Hepatomegaly, Dyspnea, Respiratory insufficiency, Res...	OMIM:610505
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Biparietal narrowing, Advanced eruption of teeth, Fing...	ORPHA:818
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Epiphyseal stippling, Respiratory failure, Death in infancy	OMIM:614862
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Clubbing of fingers, Protein-losing...	OMIM:175500
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Single transverse palmar crease, Oral ulcer, Neonatal omphalitis, Leukopenia, High palate, Hypopl...	OMIM:612541
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Anal stenosis, Aplasia/Hypoplasia of the patella, Bowing of the legs, Prea...	OMIM:617063
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Relative macrocephaly, Hallux valgus, Dental crowding, High, narrow palate, Macrocephaly, Wide mo...	OMIM:300967
Walker-Warburg Syndrome	Microcephaly, Submucous cleft hard palate, Cleft palate, Macrocephaly, Metatarsus valgus, Bifid u...	ORPHA:899
Costello Syndrome	Hyperextensibility of the finger joints, Premature birth, Short stature, Polyhydramnios, Limited ...	OMIM:218040
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Recurrent respiratory infections, Short stature, Postaxial polydactyly, Abn...	OMIM:300968
Rubinstein-Taybi Syndrome 1	Respiratory distress, Dental crowding, Single transverse palmar crease, Polyhydramnios, High, nar...	OMIM:180849
Abetalipoproteinemia	Elevated hepatic transaminase, Reticulocytosis, Hepatomegaly, Abnormality of retinal pigmentation...	ORPHA:14
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Micrognathia, ...	ORPHA:56305
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d...	ORPHA:2907
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Coxa valga, Dental malocclusion, Retrognathia, Cleft pala...	OMIM:616580
Mend Syndrome	Microretrognathia, Broad hallux, Overlapping toe, Micrognathia, Long fingers, 2-3 toe syndactyly,...	OMIM:300960
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Talipes equinovarus, Anal atresia	OMIM:601389
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis	ORPHA:2221
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Submucous cleft hard pala...	ORPHA:457279
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Postaxial polydactyly	OMIM:614500
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Growth delay, Respiratory failure, Thrombocytopenia, Hypochromic microcytic anemia	ORPHA:3240
Distal Deletion 15Q	Thin upper lip vermilion, Single transverse palmar crease, Abnormality of the dentition, Microgna...	ORPHA:1596
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Non-midline cleft lip, Abnormal tibia morphology, Anencephaly,...	ORPHA:1335
Laurence-Moon Syndrome	Pigmentary retinopathy, Short stature, Polydactyly, Abnormality of the hand	OMIM:245800
Joubert Syndrome 16	Encephalocele, Polydactyly	OMIM:614465
Meckel Syndrome	Encephalocele, Accessory spleen, Bowing of the long bones, Pancreatic fibrosis, Aplasia/Hypoplasi...	ORPHA:564
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Polyhydramnios, Proximal placement of thumb, High palate, Clinod...	ORPHA:3103
Marden-Walker Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Microcephaly, Pyloric stenosis, Metatarsus...	ORPHA:2461
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Glossoptosis, Biparietal narrowing	ORPHA:2031
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Recurrent respiratory infections, Occipital encephalocele, Abnorma...	ORPHA:397715
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Palmar pits, Orofacial cleft, Macr...	ORPHA:77301
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Short humerus, Finger syndactyly, Aganglionic megacolon, Broad hallux pha...	ORPHA:959
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Aplasia/Hypoplasia of the rib...	ORPHA:508498
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Nonimmune hydrops fetalis, Lymphedema, Hydrocephalus, Chylothorax	ORPHA:137667
Joubert Syndrome 14	Tented upper lip vermilion, Postaxial polydactyly, Cleft palate, Short philtrum, Malar flattening...	OMIM:614424
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Mandibular aplasia, Microglossia, Narrow mouth	ORPHA:990
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow...	ORPHA:769
Holoprosencephaly 13, X-Linked	Median cleft lip, Micrognathia, Microcephaly, Submucous cleft hard palate, Cleft palate, Solitary...	OMIM:301043
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Splenomegaly, Respiratory failure, Pulmon...	OMIM:615636
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Jaundice, Growth delay, Hypopnea, Respiratory failure, Neutropenia, Neon...	OMIM:617248
Double Outlet Right Ventricle	Intestinal malrotation, Abnormality of cartilage of external ear, Submucous cleft hard palate, Cl...	ORPHA:3426
Hereditary Mucoepithelial Dysplasia	Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue	ORPHA:1839
Wolf-Hirschhorn Syndrome	Recurrent respiratory infections, Hypoplastic pubic ramus, Decreased fetal movement, Abnormality ...	ORPHA:280
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Respiratory failure, Paroxysmal dyspnea	ORPHA:444013
Muscular Dystrophy, Duchenne Type	Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti...	OMIM:310200
Distal Deletion 12Q	Single transverse palmar crease, Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the mid...	ORPHA:96149
Joubert Syndrome 37	High palate, Postaxial polydactyly	OMIM:619185
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi...	ORPHA:352665
Tolchin-Le Caignec Syndrome	Arachnodactyly, Micrognathia, Submucous cleft hard palate, High palate, Narrow mouth, Clinodactyl...	OMIM:618971
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Camptodactyly of finger, Micrognathia, Microcephaly, Submucous cleft hard palate, Bifid uvula, Cl...	ORPHA:3047
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Cleft palate, Hypoplasia of the zygomatic bone, Malar flattening...	OMIM:613717
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Cleft soft palate, Microcephaly, Tapered finger, Pyloric stenosis, Supernumerary t...	ORPHA:268261
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Short long bone, Polydactyly, Hepatic cysts, Brachydactyly	OMIM:613819
Leigh Syndrome	Growth delay, Respiratory failure, Neutropenia, Intrauterine growth retardation, Hepatic failure,...	ORPHA:506
Melkersson-Rosenthal Syndrome	Macroglossia, Cheilitis, Furrowed tongue	ORPHA:2483
Culler-Jones Syndrome	Postaxial polydactyly, Cleft palate, Cleft upper lip	OMIM:615849
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Dental crowding, Broad hallux, Sandal gap, Narrow palate, Hip dysplasia...	OMIM:616078
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Erythrodontia, Hyperpigmentation of the skin, Nonimmune hydrop...	ORPHA:79277
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit...	ORPHA:2250
Nocardiosis	Respiratory distress, Liver abscess, Pneumonia, Productive cough, Nonproductive cough, Peritoniti...	ORPHA:31204
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t...	OMIM:208540
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Orofacial cleft, Downturned corners of mouth, Shor...	OMIM:194190
Adnp Syndrome	Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Sandal gap, Microcephaly...	ORPHA:404448
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proximal interphalange...	OMIM:300166
Marshall-Smith Syndrome	Irregular dentition, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glossopto...	OMIM:602535
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Cleft lip, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Congenital pulmonary...	OMIM:611812
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Microdontia, Advanced erupt...	OMIM:615873
Cardiofaciocutaneous Syndrome	Abnormal morphology of ulna, Submucous cleft hard palate, Macrocephaly, Genu valgum, Deep palmar ...	ORPHA:1340
Malignant Atrophic Papulosis	Intestinal fistula, Intestinal perforation, Peritonitis, Respiratory failure, Pleural effusion	ORPHA:679
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, Bile duct prolifer...	OMIM:618329
Listeriosis	Respiratory distress, Liver abscess, Miscarriage, Pneumonia, Premature birth, Jaundice, Peritonit...	ORPHA:533
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Hepatomegaly, Apnea, Splenomegaly, Respiratory insufficiency, Growth delay, Res...	OMIM:252010
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis	OMIM:602522
Fraser Syndrome 2	Intestinal malrotation, Rectal atresia, Cutaneous syndactyly, Respiratory failure, Hypoplasia of ...	OMIM:617666
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Intrauterine growth retardation, Respiratory failure	OMIM:620327
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Stickler Syndrome	Arachnodactyly, Abnormal dental enamel morphology, Protrusio acetabuli, Cleft upper lip, Open bit...	ORPHA:828
Relapsing Polychondritis	Atelectasis, Dyspnea, Hepatitis, Anteriorly placed anus, Recurrent aphthous stomatitis, Cough, Ab...	ORPHA:728
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Microcephaly, Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia, Oligodont...	ORPHA:453499
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Respiratory distress, Pneumonia, Epistaxis, Thrombocytopenia, Leuk...	ORPHA:340
Neurocardiofaciodigital Syndrome	Syndactyly, Microcephaly, Thin vermilion border, High palate, Polydactyly, Retrognathia	OMIM:619869
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Breech presentation, Intrauterine growth retardation, Postaxial polydactyly, Oligohydramnios	OMIM:615824
Choreoacanthocytosis	Temporomandibular joint crepitus, Protruding tongue	ORPHA:2388
Infantile Krabbe Disease	Respiratory distress, Respiratory failure, Shoulder girdle muscle weakness, Hypopigmented skin pa...	ORPHA:206436
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Unilateral lung agenesis, Arachnodactyly, Proportionate short stature, Absent...	ORPHA:500150
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Micrognathia, Microcephaly, Cleft lip, Furrowed tongue, Hip dysplasia, High palate, B...	OMIM:616975
Hepatoerythropoietic Porphyria	Hemolytic anemia, Erythrodontia, Nonimmune hydrops fetalis, Edema, Splenomegaly, Abnormality of t...	ORPHA:95159
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Accessory oral frenulum, Postaxial polydactyly, Supernumerary tooth, Postaxial ...	OMIM:617088
Myopathy, Myofibrillar, 7	Talipes equinovarus, Tongue atrophy, Elbow flexion contracture, Shoulder flexion contracture	OMIM:617114
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, High palate, Broad uvula, Bifid uvula, Micr...	OMIM:619472
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers...	OMIM:619503
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Ankyloglossia, Brachydactyly	OMIM:602361
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Bazex-Dupre-Christol Syndrome	Furrowed tongue	OMIM:301845
Zttk Syndrome	Relative macrocephaly, Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft h...	OMIM:617140
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations	OMIM:614153
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Polydactyly	OMIM:613464
Hartnup Disease	Glossitis, Gingivitis, Malabsorption	ORPHA:2116
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Pallister-Hall Syndrome	Abnormal lung lobation, Holoprosencephaly, Bifid uvula, Mesoaxial polydactyly, Radial bowing, Sho...	ORPHA:672
Simpson-Golabi-Behmel Syndrome, Type 1	Polyhydramnios, Abnormal lung lobation, Narrow greater sciatic notch, Short palm, Hepatoblastoma,...	OMIM:312870
Psoriasis 14, Pustular	Geographic tongue, Furrowed tongue	OMIM:614204
X-Linked Agammaglobulinemia	Glossoptosis, Sinusitis, Malabsorption	ORPHA:47
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Palmoplantar hyperkeratosis, Conical i...	OMIM:257980
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Microcephaly, Genu valgum, Downturned corners of mouth...	OMIM:619321
Ramos-Arroyo Syndrome	Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mouth, Primary microcepha...	ORPHA:1051
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure, Short stature	ORPHA:280210
Pachyonychia Congenita 3	Chapped lip, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Palmar hyperkeratosis, Oral l...	OMIM:615726
Stüve-Wiedemann Syndrome	Bowing of the long bones, Camptodactyly of finger, Micromelia, Abnormality of the dentition, Tris...	ORPHA:3206
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Aqueductal stenosis, Hepatic fibrosis, Neonatal death, Intrahepatic bile d...	OMIM:619534
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Tongue atrophy, A...	ORPHA:101085
Spinocerebellar Ataxia Type 36	Tongue atrophy, Tongue fasciculations	ORPHA:276198
Holoprosencephaly 2	Aplasia of the premaxilla, Microcephaly, Submucous cleft hard palate, Absent nasal septal cartila...	OMIM:157170
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Talipes equinovarus, Stomatitis...	OMIM:277380
Neuroocular Syndrome	Hyperextensibility of the finger joints, Scapular winging, Microcephaly, Tapered finger, Short uv...	OMIM:619539
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Constricting Bands, Congenital	Encephalocele, Syndactyly, Cleft upper lip, Abnormal lung lobation, Cleft palate, Hand polydactyl...	OMIM:217100
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Micrognathia	OMIM:616901
Generalized Arterial Calcification Of Infancy	Respiratory distress, Edema, Polyhydramnios, Fetal distress, Pericardial effusion, Hydrops fetali...	ORPHA:51608
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to...	ORPHA:158668
Opitz Gbbb Syndrome	Natal tooth, Micrognathia, Microcephaly, Cleft lip, Tracheoesophageal fistula, Cleft palate, Ecto...	ORPHA:2745
Acrodermatitis Enteropathica	Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis	ORPHA:37
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Congenital hip dislocation, Abnormal periodontium morphology, High palate, ...	ORPHA:480880
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Polyhydramnios, Edema, Postaxial polydactyly, Postnatal growth retardation, Epiphysea...	OMIM:302960
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Recurrent respiratory infections, Hepatomegaly, Short femur, Short...	ORPHA:17
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure, Hydrocephalus	OMIM:616538
Smith-Lemli-Opitz Syndrome	Dental crowding, Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndact...	OMIM:270400
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Decreased fetal movement, Respiratory failure requiring assisted v...	ORPHA:273
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtr...	ORPHA:261537
Methylmalonic Acidemia With Homocystinuria Type Cblf	Stomatitis, Glossitis, Cleft palate	ORPHA:79284
Poliomyelitis	Paralytic ileus, Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:2912
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Tongue atrophy, Hand muscle weakness, Areflexia of upper...	ORPHA:99956
Aprosencephaly And Cerebellar Dysgenesis	Talipes equinovarus, Bifid uvula, Micrognathia	OMIM:601374
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Polyhydramnios, High palate, Aspiration, Syndactyly, Broad hallux, Short stature...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Polyhydramnios, High palate, Aspiration, Syndactyly, Broad hallux, Short stature...	ORPHA:353277
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Tongue atrophy, Tongue fasciculations	OMIM:211530
Tuberous Sclerosis Complex	Respiratory distress, Respiratory tract infection, Noncommunicating hydrocephalus, Respiratory fa...	ORPHA:805
Ventriculomegaly With Cystic Kidney Disease	Premature birth, Postaxial polydactyly, Polyhydramnios, Hydrocephalus, Fetal pericardial effusion	OMIM:219730
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia	OMIM:619352
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Micrognathia, Microcephaly, Small hand, Fibular hypoplasia, Downturned ...	ORPHA:444077
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, L...	ORPHA:2211
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, 2-4 finger syndactyly, 2-3 toe syndactyly, Metatarsal syno...	OMIM:107480
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Abnormality of retinal pigmentation, Severe short stature, Abnormal dental ...	ORPHA:2556
Coffin-Siris Syndrome 12	Micrognathia, Celiac disease, Short thumb, Velopharyngeal insufficiency, Submucous cleft hard pal...	OMIM:619325
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Talipes equinovarus, Cleft soft palate	OMIM:614557
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Microdontia, Elbow flexion contracture, Oral leukoplakia, Furrowed tongue	OMIM:148210
Wiedemann-Rautenstrauch Syndrome	Downturned corners of mouth, Hypoplastic vertebral bodies, Short philtrum, Premature loss of teet...	ORPHA:3455
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Narrow mouth, Ankylogloss...	ORPHA:89842
Hereditary Folate Malabsorption	Glossitis, Cheilitis	ORPHA:90045
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Widely space...	ORPHA:2152
Khan-Khan-Katsanis Syndrome	Tented upper lip vermilion, Short stature, Postaxial polydactyly, Clinodactyly, Pigmentary retino...	OMIM:618460
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Thin upper lip vermilion, Short fourth metatarsal, Short fifth metatarsal,...	OMIM:619841
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtr...	ORPHA:261552
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Micr...	OMIM:610168
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Abnormality of the dentition, Malro...	OMIM:113620
Restrictive Dermopathy 1	Natal tooth, Rocker bottom foot, Micrognathia, Submucous cleft hard palate, Temporomandibular joi...	OMIM:275210
Cardiac Valvular Dysplasia 1	Pulmonary artery atresia, Hydrops fetalis, Edema	OMIM:212093
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Macrocephaly	OMIM:603387
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in upper limbs, Tongue atrophy, Flexion contracture of finger, Hand musc...	ORPHA:466768
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Broad hallux, Single transverse palmar cre...	OMIM:620186
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Microcephaly, Pyloric stenosis, Polydactyly, Acrom...	ORPHA:464306
Charcot-Marie-Tooth Disease Type 4C	Tongue atrophy, Hip dysplasia, Hammertoe, Tongue fasciculations, Difficulty in tongue movements	ORPHA:99949
Hardikar Syndrome	Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ...	OMIM:301068
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Postaxial polydactyly, Postaxial hand polydactyly, Asthma, 2-3 toe...	OMIM:619471
Senior-Loken Syndrome 8	Pancreatic cysts, Polydactyly, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:616307
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Patent urachus, Death in childhood	OMIM:618252
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati...	ORPHA:2729
Fraser Syndrome	Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Cleft upper lip, Microcephaly,...	ORPHA:2052
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Brachydactyly, Camptodactyly of finger, Cleft upper lip, Microcephaly, Metatars...	OMIM:607872
Cowden Syndrome	Furrowed tongue, Hamartomatous polyposis, Macroglossia, Palmoplantar keratoderma, Colorectal poly...	ORPHA:201
Joubert Syndrome 39	Hypopnea, Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Relative macrocephaly, Short lingual frenulum, Dental crowding, Persis...	ORPHA:740
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Submucous cleft hard palate, Microcephaly	OMIM:618891
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Enamel hypoplasia, Palmoplantar keratoderma, Smooth tongue, Oral mucosal blisters	ORPHA:79396
Restrictive Dermopathy	Natal tooth, Aplasia/Hypoplasia of the clavicles, Camptodactyly of finger, Micrognathia, Submucou...	ORPHA:1662
Imerslund-Gräsbeck Syndrome	Glossitis, Angular cheilitis	ORPHA:35858
Generalized Pustular Psoriasis	Geographic tongue, Cheilitis	ORPHA:247353
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Legius Syndrome	Inguinal freckling, Short stature, Acute monocytic leukemia, Non-small cell lung carcinoma, Axill...	ORPHA:137605
Mucoepithelial Dysplasia, Hereditary	Erythematous oral mucosa, Furrowed tongue	OMIM:158310
Townes-Brocks Syndrome	Broad hallux phalanx, Rectoperineal fistula, Toe syndactyly, Preaxial hand polydactyly, Partial d...	ORPHA:857
Agel Amyloidosis	Tongue atrophy, Xerostomia	ORPHA:85448
Giant Cell Arteritis	Glossitis	ORPHA:397
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Microcephaly, Pyloric stenosis, Submucous cleft...	OMIM:235730
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Single transverse palmar crease, Microcephaly, High, narrow palate, Sho...	OMIM:619475
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Postaxial polydactyly, Hip dysplasia, Clinodactyly of the 5th finger, Open mouth	ORPHA:457284
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Palmoplantar keratode...	ORPHA:79408
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Ganglioneuromatosis	ORPHA:653
Retinitis Pigmentosa 74	Pigmentary retinopathy, Polydactyly	OMIM:616562
Glucagonoma	Stomatitis, Intestinal obstruction, Glossitis, Steatorrhea	ORPHA:97280
Combined Pituitary Hormone Deficiencies, Genetic Forms	Pituitary dwarfism, Growth delay, Polydactyly, Holoprosencephaly, Delayed puberty, Abnormal digit...	ORPHA:95494
Microsporidiosis	Sinusitis, Glossitis	ORPHA:2552
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Ankyloglossia, Micrognathia	OMIM:619525
Kawasaki Disease	Glossitis, Cheilitis	ORPHA:2331
Plague	Chapped lip, Abnormality of the elbow, Enterocolitis, Inflammation of the large intestine, Glossitis	ORPHA:707
Carney Complex	Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho...	ORPHA:1359

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 Dph1

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 Dph1.

No publications found that use IMPC mice or data for Dph1.

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MGI Allele	Allele Type	Produced
Dph1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Dph1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Dph1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Dph1^{tm337(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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