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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Clinodactyly of the 5th finger, Tapered finger, Micrognathia, Short distal... OMIM:311895
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Hand oligodactyly, Clinodactyly of the 5th finger, Micrognathia, Glossop... ORPHA:3104
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate, Micrognathia OMIM:261800
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate, Micrognathia ORPHA:718
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia OMIM:172880
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Postaxial foot polydact... ORPHA:93403
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 6 metacarpals, Postaxial foot polydactyly, Finger synd... OMIM:186000
Fetal Parvovirus Syndrome
Hydrops fetalis, Intrauterine growth retardation, Increased nuchal translucency, Ascites ORPHA:295
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Clinodactyly of the 5th finger, Preaxial polydactyly, Carious teeth, Midline n... OMIM:129540
Orofacial Cleft 13
Cleft soft palate, Oligodontia, Micrognathia, Malar flattening, Retrognathia OMIM:613857
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Orofaciodigital Syndrome Xviii
Accessory oral frenulum, Short philtrum, Brachydactyly, Single transverse palmar crease, Sandal g... OMIM:617927
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Micrognathia, Submucous cleft hard palate, Microcephaly, Retrognathia, Mandibular pr... ORPHA:2521
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Bowing of the arm, Mesomelic leg shortening, Micrognathia, Mesomelic arm shor... OMIM:249710
Orofaciodigital Syndrome Type 10
Long philtrum, Mesomelic leg shortening, Micrognathia, Mesomelic arm shortening, Short tibia, Ret... ORPHA:2756
Auriculocondylar Syndrome 2
Narrow mouth, Micrognathia, Macrocephaly, Dental crowding, Glossoptosis, Mandibular condyle hypop... OMIM:614669
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Malar flattening, Cleft palate, Split hand, Split foot OMIM:183700
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Microcephaly, Preaxial hand polydactyly, Cleft upper lip, Cleft palate OMIM:601420
Nemaline Myopathy 9
High palate, Cleft palate, Micrognathia OMIM:615731
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis, Micrognathia, Retrognathia OMIM:615706
Isolated Congenital Hypoglossia/Aglossia
Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Micrognathia, Microglossia, Cle... ORPHA:141152
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Sandal gap, Short hallux, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Cleft palate, Abnormal lung mor... ORPHA:294975
Catel-Manzke Syndrome
Metatarsus valgus, Abnormality of epiphysis morphology, Clinodactyly of the 5th finger, Micrognat... ORPHA:1388
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Asbestos Intoxication
Hypoxemia, Late inspiratory crackles, Diffuse reticular or finely nodular infiltrations, Wheezing... ORPHA:2302
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Hypodontia, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered... ORPHA:3201
Periodontal Ehlers-Danlos Syndrome
Premature loss of primary teeth, Agenesis of permanent teeth, Periodontitis, Microdontia, Microgn... ORPHA:75392
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
17Q21.31 Microduplication Syndrome
Short philtrum, High palate, Toe syndactyly, Sandal gap, Clinodactyly of the 5th finger, Microgna... ORPHA:217340
Arthrogryposis, Distal, Type 1C
Narrow mouth, High palate, Bifid uvula, Metacarpophalangeal joint contracture, Rocker bottom foot... OMIM:619110
Meconium Aspiration Syndrome
Premature rupture of membranes, Hypoxemia, Intrauterine growth retardation, Postterm pregnancy, C... ORPHA:70588
Achondrogenesis, Type Ib
Neonatal short-limb short stature, Hydrops fetalis, Micromelia, Breech presentation, Polyhydramni... OMIM:600972
Arthrogryposis, Distal, Type 2E
Narrow mouth, Trismus, Micrognathia, Microcephaly, Talipes equinovarus, Mild microcephaly, Joint ... OMIM:121070
Arthrogryposis, Distal, Type 7
Hammertoe, Trismus, Deep philtrum, Micrognathia, Metatarsus adductus, Cutaneous syndactyly of toe... OMIM:158300
Spinal Muscular Atrophy, Type I
Respiratory failure, Decreased fetal movement, Death in childhood, Recurrent respiratory infectio... OMIM:253300
Neu-Laxova Syndrome 2
High palate, Rocker bottom foot, Micrognathia, Microcephaly, Cleft palate OMIM:616038
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Premature birth, Respiratory failure, Intrauterine growth retardation OMIM:301021
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Micrognathia, Malar flattening, Glossoptosis, Abnormal metacarpal morphology, Clef... ORPHA:166100
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Bowen-Conradi Syndrome
Rocker bottom foot, Clinodactyly of the 5th finger, Micrognathia, Microcephaly, Oral cleft, Campt... ORPHA:1270
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Bilateral talipes equinovarus, High palate, Overlapping fingers, Preaxial polydactyly, Micrognath... OMIM:618142
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Rhizomelia, Dislocated radial head, Micro... ORPHA:166016
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Micrognathia, Oral synechia, Cleft palate ORPHA:2016
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... OMIM:613005
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormal thumb morphology, Bifid uvula, Bifid distal phalanx of the thumb, Broad hallux, Partial ... ORPHA:2669
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula, Short distal phalanx of the thumb, Bifid distal phalanx of the thumb, Short distal p... OMIM:256200
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Micrognathia, Microcephaly, Talipes equinovarus, Cleft palate OMIM:616570
Bronchopulmonary Dysplasia
Emphysema, Abnormal respiratory system physiology, Respiratory failure requiring assisted ventila... ORPHA:70589
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia o... ORPHA:1263
Mitochondrial Complex I Deficiency, Nuclear Type 35
Intrauterine growth retardation, Neonatal respiratory distress, Nonimmune hydrops fetalis, Pulmon... OMIM:619003
Polydactyly, Preaxial Iv
Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, 3-4 finger syndactyly, Dy... OMIM:174700
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Orofaciodigital Syndrome Vi
Accessory oral frenulum, High palate, Tongue nodules, Clinodactyly, Cleft upper lip, Brachydactyl... OMIM:277170
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis, Death in infancy OMIM:619340
Orofaciodigital Syndrome Iv
Accessory oral frenulum, High palate, Tongue nodules, Clinodactyly, Foot polydactyly, Brachydacty... OMIM:258860
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Postaxial foot polydactyly, Non-midline cleft lip, Enamel h... ORPHA:2919
Acute Interstitial Pneumonia
Pulmonary infiltrates, Hypoxemia, Crackles, Tachypnea, Nodular pattern on pulmonary HRCT, Reticul... ORPHA:79126
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Brachydactyly, Abnormal palate morphology, Micrognathia, Tooth agenesis, Mesomelia, Abnormal shou... ORPHA:1277
Brachydactyly-Preaxial Hallux Varus Syndrome
Brachydactyly, Abnormal palate morphology, Short metacarpal, Radial club hand, Micrognathia, Prea... ORPHA:1278
Bowen-Conradi Syndrome
Microcephaly, Clinodactyly of the 5th finger, Rocker bottom foot, Micrognathia OMIM:211180
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Clinodactyly, Partial duplication of the phalanx of hand, Long philtrum, Thin uppe... OMIM:616331
Rhizomelic Syndrome, Urbach Type
Brachydactyly, High palate, Abnormality of epiphysis morphology, Rhizomelia, Triphalangeal thumb,... ORPHA:3098
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Aplasia/Hypoplasia of the lungs, Hydrops fetalis, Splenomega... ORPHA:2204
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Death in infancy, Nodular pattern on pulmonary HRCT, Crazy paving pattern, ... OMIM:610921
Mohr Syndrome
Clinodactyly of the 5th finger, Agenesis of central incisor, Syndactyly, Micrognathia, Bilateral ... OMIM:252100
Congenital Disorder Of Glycosylation, Type Ik
Abnormality of the amniotic fluid, Death in infancy, Nonimmune hydrops fetalis, Intrauterine grow... OMIM:608540
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Hydrops fetalis, Squared ili... OMIM:215045
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Short long bone, Abnormality of the epiphysis of the femoral head, Sho... ORPHA:93316
Infantile Sialic Acid Storage Disease
Hydrocephalus, High palate, Metaphyseal irregularity, Fair hair, Vacuolated lymphocytes, Hydrops ... OMIM:269920
Multiple Synostoses Syndrome 3
Limited interphalangeal movement, Broad hallux, Cubitus valgus, Humeroradial synostosis, Broad th... OMIM:612961
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis OMIM:276822
Rubinstein-Taybi Syndrome 2
High palate, Intestinal malrotation, Carious teeth, Broad hallux, Micrognathia, Microcephaly, Inc... OMIM:613684
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Hydrops fetalis, Mild postnatal growth retardation, Splenomegaly, Anisocytosis, E... OMIM:224120
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs, Long philtrum, Severe short stature, Hydrops fetalis, Micromelia... ORPHA:93298
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Micrognathia, Postaxial hand polydactyly, Cleft palate, Preaxial foot... OMIM:614120
Whistling Face Syndrome, Recessive Form
Narrow mouth, High palate, Long philtrum, Trismus, Elbow flexion contracture, Micrognathia, Micro... OMIM:277720
Periventricular Nodular Heterotopia 7
Cleft palate, Micrognathia, 2-3 toe syndactyly OMIM:617201
X-Linked Intellectual Disability, Siderius Type
Oral cleft, Preaxial hand polydactyly, Cleft upper lip, Large hands ORPHA:85287
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress, Premature b... OMIM:267450
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Hypoplasia of the ulna, Single transverse palmar crease, Fibular hypoplasia, Short ... OMIM:227270
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Single transverse palmar crease, Rocker bottom foot, Respiratory failure, Fetal akin... OMIM:611890
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Genu varum, Abnormal carpal morphology, Short palm, Hydrops fetalis, Hy... ORPHA:85166
Acrorenal Syndrome
Abnormality of the ulna, Micrognathia, Abnormality of tibia morphology, Split hand, Cleft palate,... ORPHA:971
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Long philtrum, Microcephaly, Preaxial hand polydactyly, Interphalangeal joint contracture of fing... OMIM:606242
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Microdontia, Short uvula, Micromelia, Ascites, Cleft palate, Brachydactyly, Bowing of the long bo... OMIM:614091
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Abnormality of the dentition, Thick upper lip vermilion, Mandibular prognathia, T... OMIM:226440
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Caesarian section, Severe short stature, Respiratory failure, Gr... OMIM:619057
Chromosome 22Q11.2 Duplication Syndrome
Microcephaly, High palate, Micrognathia, Velopharyngeal insufficiency OMIM:608363
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Fibular hypoplasia, Metaphyseal spurs, Cone-shaped epiphysis, Hamartoma of tongue, Metaphyseal wi... OMIM:613091
Achondrogenesis, Type Ii
Hydrops fetalis, Disproportionate short-trunk short stature, Hypoplastic iliac wing, Polyhydramni... OMIM:200610
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs, Short palm, Long philtrum, Severe short stature, Hydrops fetalis... ORPHA:93299
Auriculocondylar Syndrome 1
Narrow mouth, Impaired mastication, Micrognathia, Macrocephaly, Dental crowding, Anterior open-bi... OMIM:602483
Mulibrey Nanism
Single transverse palmar crease, Intrauterine growth retardation, Enamel hypoplasia, Thickened co... OMIM:253250
Charlie M Syndrome
Narrow mouth, Short philtrum, Brachydactyly, Finger syndactyly, Non-midline cleft lip, Split hand... ORPHA:1406
Surfactant Metabolism Dysfunction, Pulmonary, 1
Clubbing, Absent bronchoalveolar dimeric surfactant-protein B, Ground-glass opacification, Intraa... OMIM:265120
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Bifid uvula, High, narrow palate, Micrognathia, Arachnodactyly, Long finge... OMIM:604841
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Restrictive ventilatory defect, Camptodactyly of finger, Respiratory failure, Decrea... OMIM:614399
Acropectoral Syndrome
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly OMIM:605967
Orofaciodigital Syndrome Type 6
Tongue nodules, High palate, Biparietal narrowing, Brachydactyly, Foot polydactyly, Mesoaxial pol... ORPHA:2754
Cleft Velum
Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency ORPHA:99772
Achondrogenesis
Aplasia/Hypoplasia of the lungs, Long philtrum, Severe short stature, Hydrops fetalis, Micromelia... ORPHA:932
Pallister-Hall-Like Syndrome
Short ribs, Micrognathia, Microglossia, Micromelia, Hip dislocation, Postaxial hand polydactyly, ... OMIM:241800
Cardiomyopathy, Familial Restrictive, 6
Hydrops fetalis, Death in infancy, Ascites OMIM:619433
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Gingival fibromatosis, Respiratory failure, Dyspnea, Respiratory... ORPHA:1832
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short ribs, Lobulated tongue, Rhizomelia, Squared iliac bones, Preaxial polydactyly, Relative mac... OMIM:616300
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasi... OMIM:615294
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, High palate, Abnormal distal phalanx morphology of finger, Everted lower lip verm... ORPHA:1387
Jackson-Weiss Syndrome
Toe syndactyly, Abnormal palate morphology, Symphalangism affecting the phalanges of the hand, 2-... ORPHA:1540
Metatropic Dysplasia
Severe short stature, Abnormal metaphyseal vascular invasion, Flared femoral metaphysis, Flared h... OMIM:156530
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th... ORPHA:1972
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
2-3 toe syndactyly, Clinodactyly of the 5th finger, Short 5th finger, Micrognathia, Thin upper li... OMIM:618608
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Missing ribs, Single transverse palmar crease, 2-3 toe syndact... OMIM:617866
Bardet-Biedl Syndrome 7
Narrow mouth, Clinodactyly, 2-3 toe syndactyly, Polydactyly, Malar flattening, Postaxial polydactyly OMIM:615984
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Overlapping fingers, Hydrops fetalis, Thrombocytopenia, Short middle phalanx of the 4th finger, N... OMIM:616738
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, High palate, Clinodactyly, Bifid uvula, Long thumb,... OMIM:618658
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Split-Hand/Foot Malformation 1
Clinodactyly, Hand oligodactyly, Triphalangeal thumb, Broad hallux, Split foot, Foot oligodactyly... OMIM:183600
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Splenomegaly, Pleural effusion, Growth delay, Cough, Pulmonary arterial hyperten... ORPHA:2414
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Bifid uvula, Long philtrum, Drooling, Abnormality of the dentition, Clinodactyly of ... ORPHA:576283
Endocrine-Cerebroosteodysplasia
Brachydactyly, Cleft upper lip, Sandal gap, Preaxial polydactyly, Micrognathia, Polydactyly, Nata... OMIM:612651
Orofaciodigital Syndrome X
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia, Retro... OMIM:165590
Trisomy 4P
Abnormal palate morphology, Camptodactyly of finger, Radial club hand, Carious teeth, Microcephal... ORPHA:1738
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, 1-2 toe complete cutaneous syndactyly, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Distal Limb Deficiencies-Micrognathia Syndrome
Narrow mouth, High palate, Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Microdontia,... ORPHA:1307
Temple Syndrome
Short philtrum, High palate, Bifid uvula, Clinodactyly, Relative macrocephaly, Micrognathia, Smal... OMIM:616222
Distal Monosomy 1Q
Microcephaly, Thin vermilion border, Smooth philtrum, Micrognathia ORPHA:36367
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Hypereosinophi... ORPHA:2902
Fetal Gaucher Disease
Pancytopenia, High palate, Hydrops fetalis, Splenomegaly, Decreased fetal movement, Fetal akinesi... ORPHA:85212
Sialidosis Type 2
Hydrops fetalis, Splenomegaly, Hepatomegaly, Dyspnea, Short stature, Pedal edema, Ascites, Umbili... ORPHA:87876
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Cleft palate, Micrognathia ORPHA:2015
Say Syndrome
Tapered finger, Micrognathia, Microcephaly, Short distal phalanx of finger, Ulnar deviation of th... OMIM:181180
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Overlapping fingers, Respiratory failure, Congenital hip dislocation, Decreased fetal movement, R... OMIM:618291
Hyperekplexia 4
High palate, Respiratory failure, Adducted thumb, Talipes equinovarus, Umbilical hernia, Camptoda... OMIM:618011
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula, Malar flattening OMIM:300850
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Micromelia, Broad long bones, Cleft palate, Encephalocele, Narrow mouth, Bo... ORPHA:1865
Nemaline Myopathy 8
Respiratory failure, Decreased fetal movement, Fetal akinesia sequence, Polyhydramnios, Death in ... OMIM:615348
Acromelic Frontonasal Dysostosis
Cleft upper lip, Preaxial polydactyly, U-Shaped upper lip vermilion, Polydactyly, Upper airway ob... OMIM:603671
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic pulmonary obstruction, Chr... OMIM:253240
Short-Rib Thoracic Dysplasia 12
Broad palm, Hamartoma of tongue, Short toe, Ascites, Median cleft lip and palate, Brachydactyly, ... OMIM:269860
Auriculocondylar Syndrome
Narrow mouth, Bifid uvula, Hamartoma of tongue, Macrocephaly, Microglossia, Micrognathia, Abnorma... ORPHA:137888
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheoma... ORPHA:60032
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Respiratory failure, Short stature, Tongue fasciculations, Hypoplasia of the... OMIM:600561
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Brachydactyly, Rhizomelia, Hypoplastic scapulae, Micrognathia, Micromelia, Glossoptosis, Dumbbell... ORPHA:440354
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis, Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Chro... ORPHA:766
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Narrow mouth, Slender finger, Sandal gap, Clinodactyly of the 5th finger, Broad hallux, Micrognat... OMIM:617755
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Cleft palate, Postaxial polydactyly OMIM:612913
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Combined Oxidative Phosphorylation Deficiency 40
Intrauterine growth retardation, Nonimmune hydrops fetalis, Neonatal death, Premature birth, Deat... OMIM:618835
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, High palate, Solitary median maxillary central incisor, Cleft upper lip, Hand oligo... OMIM:602418
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... OMIM:615872
Minicore Myopathy With External Ophthalmoplegia
High palate, Hydrops fetalis, Decreased fetal movement, Recurrent respiratory infections, Polyhyd... OMIM:255320
Combined Oxidative Phosphorylation Deficiency 42
Intrauterine growth retardation, Nonimmune hydrops fetalis, Neonatal death, Premature birth, Deat... OMIM:618839
Lethal Congenital Contracture Syndrome 10
High palate, Narrow palate, Intrauterine growth retardation, Long philtrum, Overlapping fingers, ... OMIM:617022
Indomethacin Embryofetopathy
Hydrops fetalis, Oligohydramnios, Premature birth ORPHA:1909
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Elbo... ORPHA:2631
Pycnodysostosis
Brachydactyly, Abnormality of pelvic girdle bone morphology, Persistence of primary teeth, Hypodo... OMIM:265800
Orofaciodigital Syndrome Type 2
Broad first metatarsal, Agenesis of central incisor, Mesomelic leg shortening, Hamartoma of tongu... ORPHA:2751
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Absent thumb, Absent middle phalanx of 2nd finger, Proximal placement of thumb, Proximal placemen... OMIM:218530
Robin Sequence With Cleft Mandible And Limb Anomalies
Bifid uvula, Cleft mandible, Fibular hypoplasia, Clinodactyly of the 5th finger, Short thumb, Cle... OMIM:268305
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Death in infancy, Respiratory failure, Central apnea OMIM:611722
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Intrauterine growth retardation, Ascites, Decreased fibular diameter, Hydrops fetalis, Unilateral... OMIM:616897
Otopalatodigital Syndrome Type 2
Carpal synostosis, Short thumb, Micrognathia, Cleft palate, Narrow mouth, Pierre-Robin sequence, ... ORPHA:90652
Poirier-Bienvenu Neurodevelopmental Syndrome
Open mouth, Smooth philtrum, Mandibular prognathia, Protruding tongue, Downturned corners of mouth OMIM:618732
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Parenchymal consolidatio... ORPHA:723
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory failure, Limited elbow flexion, Reduced vital... ORPHA:266
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid uvula, Postaxial foot polydactyly, Short sternum, Microdontia, Supernumerar... OMIM:258850
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid neutrophil proportion, Restrictive v... OMIM:610978
Microcephaly 16, Primary, Autosomal Recessive
Microcephaly, Open mouth, Micrognathia, Adducted thumb OMIM:616681
Transaldolase Deficiency
Abnormal respiratory system physiology, Hepatosplenomegaly, Hydrops fetalis, Anemia, Cirrhosis, E... ORPHA:101028
Oculofaciocardiodental Syndrome
Long philtrum, Hammertoe, Clinodactyly of the 5th finger, Broad palm, Short thumb, Flexion contra... ORPHA:2712
Epilepsy, Progressive Myoclonic, 9
Microglossia, Short thumb OMIM:616540
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Chronic rhinitis, Cough, Recurrent bronchitis, Bronchiectasis, Ciliary dyski... OMIM:616726
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Decreased fetal movement, Death in childhood, Adducted thumb, Polyhydramnios... OMIM:619334
Schilbach-Rott Syndrome
Narrow mouth, Clinodactyly, Bifid uvula, 3-4 finger cutaneous syndactyly, Micrognathia, Microceph... OMIM:164220
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Abnormal mucociliary clearance, Re... OMIM:619466
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Orofaciodigital Syndrome Viii
High palate, Polydactyly, Short tibia, Cleft palate, Median cleft lip, Syndactyly OMIM:300484
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Cleft upper lip, Short palm, Intestinal malrotation, Broad palm, Partial duplication of thumb pha... OMIM:601165
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Arthrogryposis, Distal, Type 3
High palate, Bifid uvula, Single transverse palmar crease, Short phalanx of finger, Congenital hi... OMIM:114300
Immunodeficiency 54
Caesarian section, Intrauterine growth retardation, Respiratory failure, Splenomegaly, Hepatomega... OMIM:609981
Primary Ciliary Dyskinesia
Clubbing, Airway obstruction, Chronic rhinitis, Ectopic pregnancy, Intestinal malrotation, Respir... ORPHA:244
Ivic Syndrome
Small thenar eminence, Carpal synostosis, Short thumb, Short 1st metacarpal, Hypoplasia of deltoi... OMIM:147750
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of t... OMIM:192445
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Cough, Rhinorr... OMIM:615067
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Pierre-Robin sequence, Amelogenesis imperfecta, High palate, Flattened epiphysis, Coxa valga, Adv... OMIM:618363
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Short palm, Broad palm, Thick lower lip vermilion, Tapered fing... OMIM:300602
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Respiratory failure, Neonatal death, Respiratory insufficiency, Mesomelia... OMIM:228940
Spastic Paraplegia 81, Autosomal Recessive
Microcephaly, Bifid uvula, Cleft palate OMIM:618768
Uvula, Bifid
Bifid uvula OMIM:192100
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Clinodactyly of the 5th finger, Respiratory failure, Abnormalit... ORPHA:2759
Cleft Soft Palate
Cleft soft palate OMIM:119570
14Q11.2 Microdeletion Syndrome
Narrow mouth, High palate, Toe syndactyly, Toe clinodactyly, Long philtrum, Everted lower lip ver... ORPHA:261120
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary infiltrates, Pulmonary pneumatocele, Pneumonia, Leukopenia, Leukoc... ORPHA:36238
Hydrops Fetalis
Nonimmune hydrops fetalis, Pleural effusion, Miscarriage, Twin-to-twin transfusion, Lymphedema, P... ORPHA:1041
Mucopolysaccharidosis, Type Vii
Proximal tapering of metacarpals, Widely spaced teeth, Macroglossia, Narrow greater sciatic notch... OMIM:253220
Cleft Palate-Large Ears-Small Head Syndrome
Micrognathia, Microcephaly, Short distal phalanx of finger, Ulnar deviation of finger, Cleft pala... ORPHA:2013
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Death in infancy, Fetal akinesia sequence OMIM:618815
Farber Disease
Hepatic failure, Anemia, Short toe, Ascites, Diffuse reticular or finely nodular infiltrations, N... ORPHA:333
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Micromelia, Furrowed tongue, Ulnar d... ORPHA:2928
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Trisomy 13
Abnormality of pelvic girdle bone morphology, Intrauterine growth retardation, Long philtrum, Hyd... ORPHA:3378
Aminopterin Syndrome Sine Aminopterin
Brachydactyly, High palate, Clinodactyly, Oligodontia, Syndactyly, Short thumb, Micrognathia, Mic... OMIM:600325
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Recurrent respiratory infections, Productive cough, ... ORPHA:3348
Congenital Enterovirus Infection
Abnormal macrophage morphology, Hepatic failure, Leukopenia, Leukocytosis, Cholestasis, Hydrops f... ORPHA:292
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Flat capital femoral epiphysis, High palate, Wide capital femoral epiphyses, Patellar hypoplasia,... OMIM:147891
Greenberg Dysplasia
Toxemia of pregnancy, Broad palm, Pancreatic islet-cell hyperplasia, Absent distal phalanges, Mic... OMIM:215140
Fibrochondrogenesis 1
Long philtrum, Fibular hypoplasia, Clinodactyly of the 5th finger, Small hand, Broad long bones, ... OMIM:228520
Temtamy Preaxial Brachydactyly Syndrome
Partial duplication of the proximal phalanx of the 3rd finger, Clinodactyly of the 5th finger, Co... ORPHA:363417
Anencephaly 2
Cleft of alveolar ridge of maxilla, Median cleft palate, Median cleft lip OMIM:619452
Meckel Syndrome, Type 8
Cleft upper lip, Polydactyly, Microcephaly, Postaxial hand polydactyly, Talipes equinovarus, Clef... OMIM:613885
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Klippel-Trénaunay Syndrome
Microcytic anemia, Upper limb asymmetry, Hydrops fetalis, Pulmonary embolism, Hepatomegaly, Abnor... ORPHA:90308
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Aspirati... ORPHA:90117
Alpha-Thalassemia
Cholelithiasis, Microcytic anemia, Hydrops fetalis, Splenomegaly, Jaundice, Anemia, Hemolytic ane... ORPHA:846
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Micrognathia, Microcephaly, Arachnodactyly, Malar flattening, Cleft palate ORPHA:93946
Chromosome 17Q12 Duplication Syndrome
Brachydactyly, Cleft soft palate, Esophageal atresia, Micrognathia, Smooth philtrum, Broad thumb OMIM:614526
Biemond Syndrome Type 2
Short stature, Delayed puberty, Preaxial polydactyly, Hydrocephalus ORPHA:141333
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Oligohydramnios, Intrauterine growth retardation OMIM:231100
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation, Abnormality of the liver ORPHA:132
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Flat capital femoral epiphysis, High palate, Flattened epiphysis, Bifid uvula, Delayed eruption o... OMIM:612350
Orofaciodigital Syndrome Xvii
Clinodactyly, Central Y-shaped metacarpal, Partial duplication of thumb phalanx, High, narrow pal... OMIM:617926
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta ORPHA:64754
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Respiratory tract infection, Atelectasis, P... ORPHA:70587
Spondylometaphyseal Dysplasia, X-Linked
Severe short stature, Respiratory failure, Tapered finger, Hyperextensibility of the finger joint... OMIM:313420
Multiple Mitochondrial Dysfunctions Syndrome 3
High palate, Intrauterine growth retardation, Respiratory failure, Polyhydramnios, Respiratory in... OMIM:615330
Limb-Mammary Syndrome
Bifid uvula, Hypodontia, Syndactyly, Cleft palate, Hallux valgus, Camptodactyly, Split hand, Spli... OMIM:603543
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Brachydactyly, Toe syndactyly, Broad toe, Bifid uvula, 2-3 toe syndactyly, Hypoplastic vertebral ... OMIM:263540
Gaucher Disease, Perinatal Lethal
Hepatic failure, Everted lower lip vermilion, Anemia, Ascites, Thrombocytopenia, Narrow mouth, In... OMIM:608013
Diffuse Neonatal Hemangiomatosis
Hydrops fetalis, Polyhydramnios, Premature birth, Ascites ORPHA:2123
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Overlapping fingers, Micrognathia, Unilateral wrist flexion contracture, Talipes equinovarus, Abs... OMIM:616531
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Bifid uvula, Single transverse palmar crease, Open mouth, Thick lower lip vermilion,... OMIM:617412
Mandibulofacial Dysostosis With Mental Retardation
High palate, Malar flattening, Micrognathia, Wide mouth OMIM:248400
Split-Hand/Foot Malformation 3
Narrow mouth, High palate, Hypoplasia of the maxilla, Microretrognathia, Camptodactyly, Split han... OMIM:246560
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory failure, Respiratory insufficiency, Neonatal death, Apnea, Split hand OMIM:610127
Treacher Collins Syndrome 4
Microcephaly, Malar flattening, Cleft palate, Micrognathia OMIM:618939
Myopathy, Centronuclear, X-Linked
High palate, Respiratory failure requiring assisted ventilation, Respiratory failure, Decreased f... OMIM:310400
Atkin-Flaitz Syndrome
Exaggerated median tongue furrow, Short palm, Broad palm, Thick lower lip vermilion, Tapered fing... OMIM:300431
Cleidocranial Dysplasia
Abnormal thumb morphology, Open bite, Clinodactyly of the 5th finger, Tapered finger, High, narro... ORPHA:1452
Hb Bart'S Hydrops Fetalis
Hydrops fetalis, Splenomegaly, Anemia, Polyhydramnios, Preeclampsia, Hydrocephalus, Abnormal hemo... ORPHA:163596
Tetraamelia Syndrome 2
Bilateral cleft lip, Micrognathia, Microretrognathia, Glossoptosis, Ankyloglossia OMIM:618021
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Chondrodysplasia With Joint Dislocations, Gpapp Type
Narrow mouth, Brachydactyly, Short metacarpal, Micrognathia, Short toe, Genu valgum, Cleft palate... OMIM:614078
Microphthalmia, Syndromic 8
Cleft upper lip, Widely-spaced maxillary central incisors, Microcephaly, Split foot, Mandibular p... OMIM:601349
Chromosome 18P Deletion Syndrome
High palate, Clinodactyly, Micrognathia, Radial deviation of finger, Tooth malposition OMIM:146390
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Sarcoma, Melanoma, Oropharyngeal squamous cell carcinoma, Pancreatic ade... OMIM:606719
Carey-Fineman-Ziter Syndrome 1
Pierre-Robin sequence, Trismus, Tapered finger, Micrognathia, Microcephaly, Microglossia, Pectora... OMIM:254940
Renal Dysplasia-Limb Defects Syndrome
Narrow mouth, High palate, Thin vermilion border, Intrauterine growth retardation, Phocomelia, Sh... OMIM:266910
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, 2-3 toe syndactyly, Cleft palate, Cutaneous finger syndactyly, Split hand, Split ... DECIPHER:46
Hypoglossia-Hypodactylia
Narrow mouth, Aglossia, Adactyly, Micrognathia, Microglossia, Retrognathia, Split hand OMIM:103300
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Accessory oral frenulum, High palate, Bifid uvula, Short femoral neck, Short ribs, Cone-shaped ep... OMIM:266920
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Brachydactyly, Polydactyly OMIM:617405
Alg8-Cdg
Brachydactyly, Intrauterine growth retardation, Hydrops fetalis, Macroglossia, Anemia, Edema, Ele... ORPHA:79325
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Narrow mouth, Pierre-Robin sequence, Abnormal palate morphology, Micrognathia, Adducted thumb, Wh... ORPHA:1150
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy, Talipes equinovarus, Upper limb amyotrophy, Proximal muscle weakness in upper limbs ORPHA:496689
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Fetal Akinesia Deformation Sequence 4
High palate, Rocker bottom foot, Micrognathia, Retrognathia, Camptodactyly OMIM:618393
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Polyhydramnios, Respiratory failure OMIM:225753
Lymphatic Malformation 7
Facial edema, Nonimmune hydrops fetalis, Anemia, Lymphedema, Respiratory distress, Edema, Pericar... OMIM:617300
Otopalatodigital Syndrome, Type Ii
Short thumb, Bulbous tips of toes, Cleft palate, Narrow mouth, Irregular metacarpals, Broad hallu... OMIM:304120
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Microcephaly, Bifid uvula, Cleft palate ORPHA:506353
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Restrictive ventilatory defect, Hepatosplenomegaly, Diffuse alveolar hemor... ORPHA:99931
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Narrow mouth, Brachydactyly, Finger syndactyly, Hy... ORPHA:989
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Catel-Manzke Syndrome
High palate, Ulnar deviation of the 2nd finger, Cleft upper lip, Single transverse palmar crease,... OMIM:616145
Microcephalic Primordial Dwarfism, Toriello Type
Clinodactyly, Short palm, Enamel hypoplasia, Short middle phalanx of toe, Micrognathia, Microceph... OMIM:251190
Seckel Syndrome 2
Clinodactyly of the 5th finger, Microdontia, Micrognathia, Microglossia, Microcephaly OMIM:606744
Burn-Mckeown Syndrome
Narrow mouth, Short philtrum, Bifid uvula, Cleft upper lip, 2-3 toe syndactyly, Micrognathia, Man... OMIM:608572
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
High palate, Clinodactyly of the 5th finger, Joint contracture of the 5th finger, Micrognathia, M... OMIM:248910
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate, Abnormal mandible morphology OMIM:217150
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Cardiocranial Syndrome, Pfeiffer Type
Slender finger, Small hypothenar eminence, Bifid uvula, Temporomandibular joint ankylosis, Contra... ORPHA:2872
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Mosaic Trisomy 9
High palate, Intrauterine growth retardation, Rocker bottom foot, Hydrops fetalis, Intestinal mal... ORPHA:99776
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating alanine aminotransferase concentration, Intrauterine growth retardation, Ele... OMIM:245400
Greig Cephalopolysyndactyly Syndrome
Toe syndactyly, Finger syndactyly, Postaxial foot polydactyly, Preaxial hand polydactyly, Postaxi... ORPHA:380
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Polyhydramnios, Abnormal pleura morphology, Premature birth ORPHA:2444
Arthrogryposis, Distal, Type 5D
Calcaneovalgus deformity, Elbow flexion contracture, Micrognathia, Adducted thumb, Furrowed tongu... OMIM:615065
Congenital Muscular Dystrophy, Ullrich Type
Slender finger, Increased laxity of fingers, Abnormal palate morphology, Long toe, Respiratory fa... ORPHA:75840
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Acetabular erosions, Bifid uvula OMIM:601492
Moebius Syndrome
Brachydactyly, High palate, Clinodactyly, Bifid uvula, Abnormality of pelvic girdle bone morpholo... OMIM:157900
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Respiratory failure, Anal atresia, Hydrocephalus, Respiratory ins... OMIM:276950
Atelosteogenesis, Type Ii
Abnormality of pelvic girdle bone morphology, Short greater sciatic notch, Sandal gap, Micrognath... OMIM:256050
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Clinodactyly, Acromicria, Relative macrocephaly, Micrognathia, Small hand, Downturned corners of ... ORPHA:254525
Mend Syndrome
High palate, 2-3 toe syndactyly, Overlapping fingers, Polydactyly, Long fingers, Microretrognathi... OMIM:300960
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis, Intrauterine growth retardation OMIM:618838
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Brachydactyly, Short philtrum, Clinodactyly of the 5th finger, Deep philtrum, Micrognathia, Smoot... OMIM:618381
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Microcephaly, Glossoptosis, Hyperextensibility of the finger joints, Cleft palate OMIM:618356
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Respiratory failure, Decreased fetal movement OMIM:616794
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Glossoptosis OMIM:614876
Acute Lung Injury
Pulmonary infiltrates, Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Tachypnea, Respiratory ... ORPHA:178320
2Q32Q33 Microdeletion Syndrome
Narrow mouth, High palate, Toe clinodactyly, Long philtrum, Oligodontia, Clinodactyly of the 5th ... ORPHA:251019
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Clinodactyly of the 5th finger, Micrognathia, Bilateral cleft lip and pal... ORPHA:2001
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Restrictive ventilatory defect, Abnormal pleura morphology, Abnormal patte... ORPHA:724
Myotubular Myopathy With Abnormal Genital Development
High palate, Decreased fetal movement, Atelectasis, Polyhydramnios, Respiratory distress, Neonata... OMIM:300219
Orofaciodigital Syndrome Xv
Lobulated tongue, Broad hallux, Postaxial polydactyly OMIM:617127
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Hip dysplasia, Long philtrum, Preaxial foot polydac... ORPHA:1988
Campomelia, Cumming Type
Bowing of the long bones, Brachydactyly, Abnormality of the pancreas, Pancreatic cysts, Hydrops f... ORPHA:1318
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death, Fetal akinesia sequence, Polyhydramnios OMIM:619602
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Microcephaly, Bifid uvula, Absent thumb OMIM:619239
Hartnup Disorder
Glossitis OMIM:234500
Joubert Syndrome 10
Postaxial polydactyly, Macrocephaly, Deep philtrum, Thick vermilion border OMIM:300804
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Tachypnea, Respirat... OMIM:263000
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Tachypnea, Respiratory distress, Maternal diabetes, Fetal distress ORPHA:45452
Arthrogryposis, Distal, Type 2B1
Narrow mouth, High palate, Calcaneovalgus deformity, Long philtrum, Rocker bottom foot, Micrognat... OMIM:601680
Branchiogenic-Deafness Syndrome
Branchial cyst, Trismus, Submucous cleft hard palate, Short distal phalanx of finger, Branchial f... OMIM:609166
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Hydrops fetalis, Anencephaly, Aplastic clavicle, Preaxial polydactyly, Micromelia,... OMIM:616546
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
High palate, Upper limb asymmetry, Clinodactyly of the 5th finger, Relative macrocephaly, Polydac... ORPHA:231140
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure OMIM:616081
Mullegama-Klein-Martinez Syndrome
Short philtrum, Long philtrum, Clinodactyly of the 5th finger, Micrognathia, Cleft lip, Microceph... OMIM:301022
Otospondylomegaepiphyseal Dysplasia
Brachydactyly, Bifid uvula, Abnormal pelvis bone morphology, Short metacarpal, Sandal gap, Flared... ORPHA:1427
Mesomelia-Synostoses Syndrome
Long philtrum, Clinodactyly of the 5th finger, High, narrow palate, Micrognathia, Micromelia, Abn... ORPHA:2496
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Recurrent pneumonia, Growth delay, Atelectasis OMIM:268500
Phocomelia, Schinzel Type
Bowing of the long bones, Intrauterine growth retardation, Hand oligodactyly, Hydrops fetalis, Ap... ORPHA:2879
Chromosome 1P35 Deletion Syndrome
Narrow mouth, High palate, Micrognathia, Microcephaly, Thin upper lip vermilion OMIM:617930
Pallister W Syndrome
Clinodactyly, Hypoplasia of the ulna, Broad uvula, Joint contracture of the hand, Agenesis of cen... OMIM:311450
Ritscher-Schinzel Syndrome 2
Clinodactyly, Short philtrum, Broad hallux, Short distal phalanx of finger, Camptodactyly, Macroc... OMIM:300963
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Tooth malposition, Micr... OMIM:277150
Seckel Syndrome 5
High palate, Oligodontia, Hypodontia, 11 pairs of ribs, Clinodactyly of the 5th finger, Micrognat... OMIM:613823
Intermediate Nemaline Myopathy
Long philtrum, Respiratory failure, Decreased fetal movement, High, narrow palate, Polyhydramnios... ORPHA:171433
Orofaciodigital Syndrome V
High palate, Bifid uvula, Postaxial foot polydactyly, Lobulated tongue, Hypodontia, Sandal gap, A... OMIM:174300
Mandibulofacial Dysostosis With Alopecia
Trismus, Everted lower lip vermilion, Micrognathia, Delayed eruption of primary teeth, Hypoplasia... OMIM:616367
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Cleft palate, Micrognathia ORPHA:1779
Coffin-Siris Syndrome 11
High palate, Bifid uvula, Cleft soft palate, Esophageal atresia, Small hand, Downturned corners o... OMIM:618779
W Syndrome
Clinodactyly, Hypoplasia of the ulna, Broad uvula, Upper lip pit, Elbow dislocation, Metatarsus a... ORPHA:2804
Glycogen Storage Disease Iv
Hepatic failure, Hepatosplenomegaly, Portal hypertension, Hydrops fetalis, Decreased fetal moveme... OMIM:232500
Ectrodactyly-Cleft Palate Syndrome
Split hand, Cleft palate OMIM:129830
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Elbow flexion contracture, Abnormality of epiphysis morphology, Radioulnar dislocati... ORPHA:93359
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormal distal phalanx morphology of fin... ORPHA:2725
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Hypoplastic pubic bone, Short long bone, Fibular hypoplasia, Short ribs, Preaxial polydactyly, Es... OMIM:617925
Mucopolysaccharidosis Type 7
Abnormal hip bone morphology, Epiphyseal stippling, Hydrops fetalis, Abnormal pleura morphology, ... ORPHA:584
Temtamy Syndrome
Brachydactyly, Genu varum, Abnormal palate morphology, Clinodactyly of the 5th finger, Thick lowe... ORPHA:1777
Acrocephalopolysyndactyly Type Iii
Broad hallux, Hypoplasia of the maxilla, Lower limb undergrowth, Malar flattening, Dental crowdin... OMIM:101120
Hydrolethalus
Bifid uvula, Unilateral cleft lip, Micrognathia, Submucous cleft hard palate, Micromelia, Postaxi... ORPHA:2189
Bardet-Biedl Syndrome 4
Brachydactyly, Abnormality of the dentition, Syndactyly, Polydactyly OMIM:615982
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Meier-Gorlin Syndrome 7
Narrow mouth, High palate, Bowing of the legs, Clubbing, Progressive microcephaly, Anal stenosis,... OMIM:617063
Robinow Syndrome, Autosomal Recessive 2
Brachydactyly, Clinodactyly, Long philtrum, Relative macrocephaly, Micrognathia, Broad thumb, Abn... OMIM:618529
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Narrow mouth, High palate, Short philtrum, Bifid uvula, Clinodactyly, Micrognathia, Pyloric steno... ORPHA:96184
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Trisomy 1Q
Narrow mouth, Toe syndactyly, Hydrops fetalis, Anal atresia, Arachnodactyly, Preaxial hand polyda... ORPHA:261344
Osteopathia Striata-Cranial Sclerosis Syndrome
Bifid uvula, Delayed eruption of teeth, High, narrow palate, Micrognathia, Submucous cleft hard p... ORPHA:2780
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Pierre-Robin sequence, Brachydactyly, Long philtru... ORPHA:1358
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Retrognathia, Cleft palate ORPHA:2736
Atelosteogenesis, Type Iii
Hitchhiker thumb, Rhizomelia, Sandal gap, Widened distal phalanges, Tibial bowing, Elbow dislocat... OMIM:108721
Mcdonough Syndrome
Short philtrum, Clinodactyly, Single transverse palmar crease, Micrognathia, Furrowed tongue, Man... OMIM:248950
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Overlapping fingers, Short hallux, Short thumb, Broad hallux, Short distal phalanx... OMIM:618167
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hypoglossia With Situs Inversus
Narrow mouth, High palate, Hypodontia, Micrognathia, Microglossia OMIM:612776
Meier-Gorlin Syndrome 5
Clinodactyly, Long philtrum, Elbow dislocation, Micrognathia, Submucous cleft hard palate, Microc... OMIM:613805
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Hydrops fetalis, Polyhydramnios, Single umbilical artery ORPHA:3405
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent frontal sinuses, Clinodactyly of the 5th finger, Micrognathia, Microcephaly, Small hand... OMIM:170390
Tarp Syndrome
Tongue nodules, High palate, Clinodactyly, Single transverse palmar crease, Short sternum, Cutane... OMIM:311900
Cardiomyopathy, Familial Hypertrophic 27
Hydrops fetalis OMIM:618052
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachydactyly, Single transverse palmar crease, Long philtrum, Short femoral neck, Velopharyngeal... OMIM:614701
Intellectual Developmental Disorder, Autosomal Dominant 23
Long philtrum, Drooling, Sandal gap, Micrognathia, Broad distal phalanx of finger, Dental crowdin... OMIM:615761
Trisomy 8Q
Brachydactyly, High palate, Camptodactyly of finger, Non-midline cleft lip, Everted lower lip ver... ORPHA:1752
Myopathy, Centronuclear, 5
Narrow mouth, High palate, Micrognathia, Retrognathia OMIM:615959
Achondrogenesis, Type Ia
Hypoplastic ischia, Hydrops fetalis, Hypoplastic scapulae, Disproportionate short-trunk short sta... OMIM:200600
Cornelia De Lange Syndrome 2
Brachydactyly, High palate, Clinodactyly, Micrognathia, Microcephaly, Proximal placement of thumb... OMIM:300590
Bronchogenic Cyst
Bronchogenic cyst, Abnormal stomach morphology, Pneumonia, Abnormal pleura morphology, Pulmonary ... ORPHA:2357
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Narrow mouth, Thin vermilion border, Aplasia/Hypoplasia of the lungs, Sandal gap, Splenomegaly, A... ORPHA:1046
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Short philtrum, Intrauterine growth retardation, Respiratory failure, Hepatomegaly, Growth delay,... ORPHA:1194
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Hydrops fetalis, Abnormality of the upper limb, Splenomegaly, H... ORPHA:834
Birk-Barel Syndrome
Submucous cleft soft palate, High palate, Short philtrum, Bifid uvula, Single transverse palmar c... OMIM:612292
Lambotte Syndrome
Narrow mouth, Microcephaly, Retrognathia, Preaxial foot polydactyly OMIM:245552
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Abnormality of the l... ORPHA:474
3-Methylglutaconic Aciduria, Type Viii
Respiratory failure, Growth delay, Neutropenia, Apnea, Death in infancy OMIM:617248
Orofaciodigital Syndrome Xiv
Short ribs, Lobulated tongue, Preaxial polydactyly, Supernumerary tooth, Bifid tongue, Hamartoma ... OMIM:615948
Cousin Syndrome
Clinodactyly of the 5th finger, Micrognathia, Hypoplastic iliac wing, Cleft palate, Hypoplastic p... OMIM:260660
Shox-Related Short Stature
High palate, Ulnar radial head dislocation, Tibial bowing, Micrognathia, Madelung deformity, Lowe... ORPHA:314795
Lymphangiectasia, Pulmonary, Congenital
Chylothorax, Nonimmune hydrops fetalis, Mild postnatal growth retardation, Pleural effusion, Palp... OMIM:265300
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Micrognathia, Macroglossia, Micromelia, Limb undergrowth, Short long bone ORPHA:1423
Au-Kline Syndrome
High palate, Hip dysplasia, Open mouth, Oligodontia, Overlapping toe, Deep palmar crease, Postaxi... OMIM:616580
Interstitial Lung Disease 1
Clubbing, Elevated bronchoalveolar lavage fluid neutrophil proportion, Nonspecific interstitial p... OMIM:619611
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Macrocephaly, Protruding tongue, Macroglossia OMIM:227250
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Hypoplastic pubic bone, Delayed ossificati... ORPHA:93346
Bardet-Biedl Syndrome 5
Brachydactyly, Syndactyly, Polydactyly OMIM:615983
Diamond-Blackfan Anemia 6
Bifid uvula, Cleft upper lip, Triphalangeal thumb, Short thumb, Micrognathia, Retrognathia, Cleft... OMIM:612561
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Short philtrum, Bifid uvula, Single transverse palmar crease, Progressive microcephaly, Bilateral... OMIM:618622
Hepatic Veno-Occlusive Disease
Respiratory failure, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Ascites ORPHA:890
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Short metacarpal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, ... OMIM:617102
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Respiratory failure, Decreased fetal movement, Polyhydramnios, Neonatal respiratory distress, Pre... OMIM:616867
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Finger syndactyly, Triphalangeal thumb, High, narrow palate, Short di... ORPHA:957
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Long philtrum, Respiratory failure, Hypoplasia of the radius, Micromelia, Respirat... OMIM:617895
Burning Mouth Syndrome
Tongue pain, Parageusia, Smooth tongue, Abnormality of taste sensation, Burning mouth, Strawberry... ORPHA:353253
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic rhinitis, Dyspnea, Atelectasis, Bronchiecta... ORPHA:922
Lujan-Fryns Syndrome
Brachydactyly, Short philtrum, High palate, Camptodactyly of finger, Abnormality of the dentition... ORPHA:776
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Neuraminidase Deficiency
Vacuolated lymphocytes, Epiphyseal stippling, Hydrops fetalis, Splenomegaly, Hepatomegaly, Short ... OMIM:256550
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Respiratory failure, Pigmentary retinopathy, Respiratory insuff... ORPHA:370968
Short Stature-Wormian Bones-Dextrocardia Syndrome
Broad alveolar ridges, High palate, Brachydactyly, Delayed eruption of teeth, Abnormality of the ... ORPHA:2863
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Brachydactyly, Bifid uvula, Macroglossia, Microcephaly, Retrognathia, Protruding tongue, Cleft pa... OMIM:612938
Scedosporiosis
Abnormal respiratory system physiology, Sinusitis, Abnormal jejunum morphology, Pneumonia, Bronch... ORPHA:449280
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weakness, Respi... ORPHA:254875
Rhizomelic Limb Shortening With Dysmorphic Features
Single transverse palmar crease, Long philtrum, Rhizomelia, Short 5th finger, Short thumb, Microg... OMIM:618821
Sandestig-Stefanova Syndrome
Clinodactyly, High palate, Intrauterine growth retardation, Rocker bottom foot, Respiratory failu... OMIM:618804
Desbuquois Dysplasia 2
Genu varum, Bifid uvula, Long philtrum, Microcephaly, Metaphyseal widening, Cleft palate, Hip dis... OMIM:615777
Treacher Collins Syndrome 3
Malar flattening, Cleft palate, Micrognathia OMIM:248390
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Brachydactyly, Postaxial polydactyly, Short ribs, Preaxial polydactyly, Acetabular spurs, Short l... OMIM:615503
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Short philtrum, Conical tooth, Hypoplasia of the maxilla, Limb undergrow... OMIM:619142
Pulmonary Alveolar Microlithiasis
Pulmonary infiltrates, Hypoxemia, Tachypnea, Increased pulmonary vascular resistance, Bronchitis,... ORPHA:60025
Mitochondrial Trifunctional Protein Deficiency
Cholestasis, Hydrops fetalis, Elevated circulating aspartate aminotransferase concentration, Resp... OMIM:609015
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Intrauterine growth retardation, Respiratory failure, Tachypnea, Decreased fetal movement, Inspir... OMIM:604320
Pyruvate Kinase Deficiency Of Red Cells
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Intrauterine growth retardation OMIM:266200
Mitochondrial Myopathy And Sideroblastic Anemia
Microcephaly, High palate, Long philtrum, Micrognathia ORPHA:2598
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Small abnormally formed scapulae, Short greater sciatic ... OMIM:187601
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Shoulder girdle muscle weakness OMIM:604801
Contractures-Developmental Delay-Pierre Robin Syndrome
Abnormality of finger, Abnormality of frontal sinus, Short thumb, High, narrow palate, Micrognath... ORPHA:436003
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hepatosplenomegaly, Leukocytosis, Respiratory failure, Tachypne... OMIM:618278
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Tracheomalacia, Tented upper lip vermilion, Atelectasis, Abnormality ... ORPHA:896
Stromme Syndrome
Intestinal malrotation, Preaxial polydactyly, Micrognathia, Microcephaly, Jejunal atresia, Wide m... OMIM:243605
Autosomal Recessive Amelia
Non-midline cleft lip, Amelia involving the upper limbs, Micrognathia, Oral cleft, Acromelia of t... ORPHA:1027
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Long philtrum, Camptodactyly of finger, Sandal gap, Submucous cleft hard palat... ORPHA:178303
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pierre-Robin sequence, Hypoplastic distal segments of scapulae, Cleft palate, Micrognathia OMIM:602196
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Abnormality of the ulna, Brachydactyly, Finger syn... ORPHA:570
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronch... OMIM:608647
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Portal hypertension, Hepatosplenomegaly, Nonimmune hydrops fetalis, Decreased li... ORPHA:367
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Broad femoral neck, Res... OMIM:135100
Cree Mental Retardation Syndrome
Cleft soft palate, Rocker bottom foot, Micrognathia, Aplasia/Hypoplasia of the ribs, Cutaneous fi... OMIM:606851
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Aplasia/Hypoplasia of the lungs, Triphalangeal thumb, Short thumb, Sho... ORPHA:1120
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Absent radius, Absent tibia, Aplasia/Hypoplasia of the thumb, ... ORPHA:2378
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Proximal upper limb muscle hypertrophy, Atelectasis, Exertional dyspnea, Pulmonary... ORPHA:254361
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Gm1 Gangliosidosis Type 1
Abnormal placenta morphology, Hepatosplenomegaly, Intrauterine growth retardation, Long philtrum,... ORPHA:79255
Microcephaly-Albinism-Digital Anomalies Syndrome
Microcephaly, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the t... ORPHA:2513
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Ground-glass opacification, Pneumonia, Airway obstruction, Hypoxemia, Reduce... ORPHA:1303
6Q25 Microdeletion Syndrome
High palate, Long philtrum, Rocker bottom foot, Clinodactyly of the 5th finger, Micrognathia, Mic... ORPHA:251056
Acrofacial Dysostosis Syndrome Of Rodriguez
Narrow mouth, High palate, Short philtrum, Clinodactyly, Single transverse palmar crease, Fibular... OMIM:201170
Geleophysic Dysplasia 3
Brachydactyly, Pneumonia, Long philtrum, Sleep apnea, Respiratory failure, Dyspnea, Short stature... OMIM:617809
Tetraploidy
Biparietal narrowing, Short philtrum, Radial club hand, Micrognathia, Microcephaly, Cleft palate ORPHA:3305
Gm1 Gangliosidosis
Narrow mouth, Premature birth, Hepatosplenomegaly, Long philtrum, Abnormality of epiphysis morpho... ORPHA:354
Isolated Childhood Apraxia Of Speech
Submucous cleft hard palate, Drooling, High, narrow palate ORPHA:209908
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Mala... ORPHA:79113
Congenital Disorder Of Glycosylation, Type Id
High palate, Clinodactyly, Bifid uvula, Microcephaly, Adducted thumb, Long fingers, Clinodactyly ... OMIM:601110
Pelvis-Shoulder Dysplasia
Hypoplastic ischia, Hypoplastic pubic bone, Absent proximal finger flexion creases, Thick anterio... ORPHA:2839
Acrocallosal Syndrome
Long philtrum, Clinodactyly of the 5th finger, Tapered finger, Macrocephaly, Cleft palate, Triang... OMIM:200990
Meier-Gorlin Syndrome 8
Narrow mouth, Microcephaly, Micrognathia, Thick vermilion border OMIM:617564
Craniosynostosis 2
Cleft soft palate, Triphalangeal thumb, Supernumerary tooth, Brachydactyly OMIM:604757
Osteogenesis Imperfecta, Type Xii
Narrow mouth, High palate, Delayed eruption of teeth, Micrognathia, Malar flattening OMIM:613849
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Honeycomb lung, Crackles, Cough,... ORPHA:2032
Hennekam Syndrome
Ascites, Lymphopenia, Narrow mouth, Mild postnatal growth retardation, Pulmonary lymphangiectasia... ORPHA:2136
Hereditary Elliptocytosis
Cholelithiasis, Reticulocytosis, Hydrops fetalis, Splenomegaly, Jaundice, Prolonged neonatal jaun... ORPHA:288
Verloove Vanhorick-Brubakk Syndrome
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Non-midline cleft lip, Micrognat... ORPHA:3429
Camptodactyly Syndrome, Guadalajara, Type Ii
Brachydactyly, Single transverse palmar crease, Long philtrum, Patellar hypoplasia, Short 3rd toe... OMIM:211920
Kleefstra Syndrome 2
Microcephaly, Bifid uvula, Everted lower lip vermilion OMIM:617768
Temtamy Preaxial Brachydactyly Syndrome
Brachydactyly, Clinodactyly, Carpal synostosis, Short metacarpal, Microdontia, Deep philtrum, Sho... OMIM:605282
Multiple Epiphyseal Dysplasia Type 4
Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Delayed femoral head os... ORPHA:93307
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Narrow mouth, Bilateral triphalangeal thumbs, Open mouth, Microdontia, Short distal phalanx of to... OMIM:619356
Non-Distal Trisomy 13Q
High palate, Long philtrum, Everted lower lip vermilion, Micrognathia, Microcephaly, Arachnodacty... ORPHA:1702
Zimmermann-Laband Syndrome
High palate, Bifid uvula, Gingival fibromatosis, Hypodontia, Supernumerary tooth, Micrognathia, M... ORPHA:3473
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Brachydactyly, High palate, Large hands, Micrognathia, Microcephaly, Hypoplasia of the maxilla, F... OMIM:300534
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Brachydactyly, Median cleft lip, Disproportionate shortening of the tibia, Hydrops fetalis, Intes... OMIM:263520
Avian Influenza
Nonproductive cough, Pulmonary infiltrates, Ground-glass opacification, Pneumonia, Hypoxemia, Leu... ORPHA:454836
Silver-Russell Syndrome 2
2-3 toe syndactyly, Clinodactyly of the 5th finger, Relative macrocephaly, Micrognathia, Downturn... OMIM:618905
Syngap1-Related Developmental And Epileptic Encephalopathy
Narrow mouth, High palate, Abnormal tongue physiology, Microcephaly, Postaxial polydactyly, Thin ... ORPHA:544254
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Hydrocephalus, Metaphyseal irregularity, Small abnormally formed scapul... OMIM:187600
Sheldon-Hall Syndrome
High palate, Abnormal hip bone morphology, Overlapping fingers, Micrognathia, Adducted thumb, Tar... ORPHA:1147
Suleiman-El-Hattab Syndrome
Brachydactyly, High palate, Clinodactyly, Single transverse palmar crease, Long philtrum, Droolin... OMIM:618950
Osteogenesis Imperfecta, Type Ii
Abnormality of pelvic girdle bone morphology, Tibial bowing, Nonimmune hydrops fetalis, Crumpled ... OMIM:166210
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Hypomandibular Faciocranial Dysostosis
Aglossia, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Pursed lips OMIM:241310
Robinow Syndrome, Autosomal Recessive 1
Clinodactyly, Missing ribs, Long philtrum, Bifid distal phalanx of toe, Micrognathia, Macroglossi... OMIM:268310
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Death in infancy, Respiratory failure, Hepatomegaly OMIM:614299
Postsynaptic Congenital Myasthenic Syndromes
Weakness of the intrinsic hand muscles, High palate, Restrictive ventilatory defect, Abnormality ... ORPHA:98913
Hypertelorism, Microtia, Facial Clefting Syndrome
Narrow mouth, Small thenar eminence, Cleft upper lip, 2-3 toe syndactyly, Short 5th finger, Micro... OMIM:239800
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrops fetalis, Palpebral edema, Pleural effusion, Predominantly lower limb lymphedema, Ascites ORPHA:69735
Temple Syndrome
Bifid uvula, Clinodactyly of the 5th finger, Relative macrocephaly, Small hand, Short foot ORPHA:254516
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Pancytopenia, Hepatic failure, Leukocytosis, Respiratory failure, Splenomegaly, He... OMIM:259720
Oculoauriculovertebral Spectrum With Radial Defects
Ectopic anus, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Triphalangeal thumb, Wide m... ORPHA:2549
Oculoauriculofrontonasal Syndrome
Narrow mouth, Micrognathia, Cleft lip, Microcephaly, Broad philtrum, Macrocephaly, Cleft palate ORPHA:398156
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Long philtrum, 2-3 toe syndactyly, Postaxial foot polydactyly, Intestinal malrotatio... ORPHA:404440
Silver-Russell Syndrome Due To A Point Mutation
Clinodactyly of the 5th finger, Short 5th finger, Relative macrocephaly, Micrognathia, Polydactyl... ORPHA:397590
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Polysyndactyly of hallux, Aganglionic megacolon, Preaxial foot polydactyly OMIM:235750
Lethal Acantholytic Erosive Disorder
Intrauterine growth retardation, 4-5 finger syndactyly, Clinodactyly of the 5th finger, Respirato... ORPHA:158687
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, High palate, Pneumonia, Severe postnatal growth retardati... ORPHA:98905
Rhizomelic Syndrome
Rhizomelia, Bifid distal phalanx of the thumb, Micrognathia, Microcephaly, Complete duplication o... OMIM:268250
Greig Cephalopolysyndactyly Syndrome
3-4 finger syndactyly, Postaxial foot polydactyly, Preaxial foot polydactyly, Broad hallux, Preax... OMIM:175700
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Cleft mandible, Long philtrum, Clinodactyly of the 5th finger, ... OMIM:608670
3P25.3 Microdeletion Syndrome
Short philtrum, Acromesomelia, Congenital pseudoarthrosis of the clavicle, Deep philtrum, Tapered...