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Gene: Sox9 MGI:98371

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

SRY (sex determining region Y)-box 9

Synonyms:

2010306G03Rik

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 Sox9 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 Sox9 (7 diseases)
Human diseases predicted to be associated with Sox9 (2427 diseases)

The table below shows human diseases associated to Sox9 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Campomelic Dysplasia	Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cer...	OMIM:114290
Isolated Pierre Robin Syndrome	Neonatal respiratory distress, Micrognathia, Upper airway obstruction, Cleft palate, Glossoptosis	ORPHA:718
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510

The table below shows human diseases predicted to be associated to Sox9 by phenotypic similarity.

Disease	Matching phenotypes	Source
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract...	ORPHA:93307
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me...	OMIM:602111
Schneckenbecken Dysplasia	Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat acetabular ...	OMIM:269250
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar...	ORPHA:1452
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Neonatal respiratory dis...	OMIM:602471
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abdominal distention, Short thorax, A...	ORPHA:85166
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ...	OMIM:228520
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b...	OMIM:224300
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat...	OMIM:108721
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Kniest Dysplasia	Respiratory distress, Enlarged joints, Delayed epiphyseal ossification, Coxa vara, Tibial bowing,...	OMIM:156550
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w...	OMIM:608940
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Micromelia, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia...	OMIM:151210
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,...	OMIM:223800
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl...	OMIM:210720
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Atelosteogenesis, Type I	Laryngeal stenosis, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest...	OMIM:108720
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A...	OMIM:602196
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Micrognathia, Nasogastric tube feeding in infancy, Dyspnea, Temporomandibul...	ORPHA:141152
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Kyphomelic Dysplasia	Micromelia, Micrognathia, Lateral clavicle hook, Tibial bowing, Femoral bowing, Pterygium, Short ...	OMIM:211350
Achondroplasia	Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora...	OMIM:100800
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p...	OMIM:617866
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han...	OMIM:200600
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, High, narrow pala...	OMIM:600920
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, De...	OMIM:112350
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Thorac...	OMIM:187600
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Micrognathia, Hemivertebrae, Orofacial cleft, Pectus carinatum, Hig...	ORPHA:958
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Wide anterio...	OMIM:259420
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Smith-Mccort Dysplasia 1	Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat...	OMIM:607326
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate...	OMIM:311895
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Elbow dislocation, Absent radius,...	OMIM:171480
Cleidocranial Dysplasia 1	Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of ...	OMIM:119600
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn...	ORPHA:1427
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo...	OMIM:264700
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, M...	ORPHA:3035
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Hypoplast...	OMIM:607778
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo...	OMIM:277440
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,...	OMIM:619636
Shox-Related Short Stature	Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Hi...	ORPHA:314795
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han...	OMIM:164900
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Thin upper lip vermilion, Death in infancy, Micrognathia, Wide anterior f...	OMIM:619135
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Fused teeth, High palate, Narrow chest, Thoracic dysplasia, M...	OMIM:614091
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft...	ORPHA:3104
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m...	ORPHA:2021
Orofaciodigital Syndrome Iii	Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Post...	OMIM:258850
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Beaded ribs, Multiple ...	OMIM:166210
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Osteogenesis Imperfecta, Type X	Osteopenia, Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint...	OMIM:613848
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Orofa...	ORPHA:79107
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Campomelic Dysplasia	Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cer...	OMIM:114290
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat...	OMIM:610915
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:600081
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, ...	OMIM:620076
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con...	OMIM:271640
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis...	OMIM:207410
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera...	OMIM:307800
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys...	ORPHA:166016
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Catel-Manzke Syndrome	Camptodactyly of finger, Metatarsus valgus, Micrognathia, Pectus excavatum, Joint stiffness, Radi...	ORPHA:1388
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Femoral retroversion, Cleft upper lip, Kyphoscoliosis, Cleft palate, Pseudo...	OMIM:607371
Grant Syndrome	Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus ...	OMIM:311900
Metaphyseal Dysplasia, Spahr Type	Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy...	OMIM:250400
Cardiomyopathy, Dilated, 2A	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:611880
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Thin bony cortex, Enlargement of the ankles, Wide cranial sutures, Ost...	ORPHA:289157
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Stuve-Wiedemann Syndrome 1	Enlarged joints, Apnea, Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bow...	OMIM:601559
Cardiomyopathy, Dilated, 1I	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red...	OMIM:604765
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog...	ORPHA:2878
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Micrognathia, Nasogastric tube feeding in infan...	ORPHA:93316
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Respiratory distress, Micr...	ORPHA:166272
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ...	ORPHA:1512
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Odontochondrodysplasia 1	Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow...	OMIM:184260
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Femoral bowing, Abnorm...	ORPHA:2563
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, Neonatal deat...	OMIM:269860
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Flexion contracture, Tibi...	OMIM:143095
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Respiratory distress, Hypoplasia of the maxilla, Short metatar...	OMIM:166250
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th...	OMIM:241530
W Syndrome	Hypoplasia of the ulna, Pes planus, Radial bowing, Broad uvula, Elbow dislocation, Metatarsus add...	ORPHA:2804
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp...	OMIM:206920
Peroxisome Biogenesis Disorder 10A (Zellweger)	Death in infancy, Micrognathia, Feeding difficulties, Epiphyseal stippling, High palate	OMIM:614882
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Blount Disease	Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the...	ORPHA:2768
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem...	OMIM:304120
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Hemivertebrae, Short palm, Thoracic he...	OMIM:268310
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Adenylosuccinate Lyase Deficiency	Flat occiput, Anteverted nares, Microcephaly, Brachycephaly, Short nose	ORPHA:46
Lethal Recessive Chondrodysplasia	Respiratory distress, Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short l...	ORPHA:1423
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor...	ORPHA:2779
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ...	ORPHA:1040
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic ilia, Hypopla...	OMIM:169550
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Arthrogryposis, Distal, Type 7	Micrognathia, Metatarsus adductus, Trismus, Deep philtrum, Hip dislocation, Feeding difficulties,...	OMIM:158300
Bowen-Conradi Syndrome	Death in infancy, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Feeding difficulties...	ORPHA:1270
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should...	OMIM:274000
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi...	ORPHA:2752
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ...	ORPHA:2879
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feed...	ORPHA:251028
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Rocker bottom foot, Recurrent fractures, Micrognathia, Nasogastric tube feeding in...	ORPHA:453510
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Death in infancy, Lumbar hyperlordosis, Flat acetabu...	OMIM:256050
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hy...	OMIM:252500
Intellectual Developmental Disorder, Autosomal Recessive 27	Failure to thrive, Depressed nasal bridge, Midface retrusion, Microcephaly	OMIM:614340
Ulna Metaphyseal Dysplasia Syndrome	Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Abnormal f...	ORPHA:1837
Diaphanospondylodysostosis	Respiratory distress, Missing ribs, Short thorax, Cleft palate, Enlarged thorax, Narrow pelvis bo...	ORPHA:66637
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Large hands, Taurodont...	OMIM:157980
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,...	ORPHA:96334
Blount Disease, Adolescent	Genu varum, Osteochondritis dissecans, Bowing of the legs	OMIM:259200
Acrorenal-Mandibular Syndrome	Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split...	OMIM:200980
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Craniosynostosis, Brachycephaly, Macrocephaly, Thickened calvaria	ORPHA:178377
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Cardiomyopathy, Dilated, 1Gg	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Car...	OMIM:613642
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Dysphagia, Death in adolescence, Short long bone,...	OMIM:619751
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Apnea, Distal wideni...	OMIM:602535
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Bowing o...	OMIM:613849
Tarp Syndrome	Finger syndactyly, Apnea, Single transverse palmar crease, Rocker bottom foot, Postaxial polydact...	ORPHA:2886
Non-Distal Duplication 10Q	Frontal bossing, Depressed nasal bridge, Micrognathia, Microcephaly, Brachycephaly, Short nose, C...	ORPHA:1695
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Tibial bowing, Pectus carinatum, Reduced bone mineral density, High palate, Abnormal b...	ORPHA:93315
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibial bowing, P...	ORPHA:175
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Limited pronation/supination of forearm	DECIPHER:58
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi...	ORPHA:1765
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology	OMIM:259270
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Joint dislocation, Micrognathia, Feeding difficulties, Wide mouth, Widely s...	OMIM:300934
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Left ventricular outfl...	OMIM:613255
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia	OMIM:172880
Epiphyseal Dysplasia, Multiple, 2	Epiphyseal dysplasia, Tibial torsion, Knee osteoarthritis, Flattened epiphysis, Irregular epiphys...	OMIM:600204
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Perching Syndrome	Respiratory distress, Feeding difficulties, High palate, Scoliosis, Dysphagia, Joint contracture,...	OMIM:617055
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp...	OMIM:620269
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro...	ORPHA:1350
Tibial Torsion, Bilateral Medial	Bowing of the legs, Scoliosis, Tibial torsion	OMIM:188800
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Smooth philtrum, Ulnar deviation of the hand, Proximal placement of thumb, Feeding difficulties, ...	OMIM:620113
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ...	OMIM:277170
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus excavatum, Multiple prena...	OMIM:301014
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A...	ORPHA:971
Pierre Robin Syndrome	Neonatal respiratory distress, Micrognathia, Feeding difficulties in infancy, Pierre-Robin sequen...	OMIM:261800
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Micrognathi...	ORPHA:1143
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop...	OMIM:184250
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato...	OMIM:601812
Grant Syndrome	Joint dislocation, Bowing of the long bones, Micrognathia, Open bite, Abnormal cortical bone morp...	ORPHA:2097
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy	OMIM:192600
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Small for gestational age, Microcephaly, Hypoplasia of the maxilla, Brachy...	ORPHA:93950
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Scarf Syndrome	Craniosynostosis, Abnormal form of the vertebral bodies, Pectus carinatum, Joint hyperflexibility...	ORPHA:3134
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Pectus excavatum, Osteoarthritis, Cleft palate, Pectus carinatum, Glossoptosis, Lon...	ORPHA:166100
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Knee dislocation, Irregular vertebral endplates, High palate...	OMIM:618363
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone...	ORPHA:566943
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Narrow...	OMIM:156530
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Beaking of vertebral ...	OMIM:231070
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures...	OMIM:300554
Glass Syndrome	Dental crowding, Arachnodactyly, Anterior tibial bowing, Conical tooth, Micrognathia, Narrow mout...	OMIM:612313
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Enlarged epiphyses, Proximal placement of thumb, Flexion contracture, Coxa vara, Pectus carinatum...	OMIM:613330
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, High, nar...	OMIM:122470
Bowen-Conradi Syndrome	Clinodactyly of the 5th finger, Abnormal joint morphology, Rocker bottom foot, Micrognathia	OMIM:211180
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Inguinal hernia, Microcephaly, Flexion contracture, Short nose, Failure to t...	OMIM:618379
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Gastroesophagea...	ORPHA:95699
Aase-Smith Syndrome	Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Trismus, Cleft palate, Apl...	ORPHA:916
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Pterygium, ...	OMIM:263650
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Ulbright-Hodes Syndrome	Respiratory distress, Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short...	ORPHA:3404
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, S...	OMIM:218600
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Ve...	ORPHA:2631
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Long thorax, Mesomelia, Abnormal pala...	ORPHA:1277
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Pectus carinatum, Foot olig...	OMIM:276820
Turnpenny-Fry Syndrome	Mandibular prognathia, Dental crowding, Feeding difficulties in infancy, Prominent interphalangea...	OMIM:618371
Rhyns Syndrome	Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly	OMIM:602152
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious...	OMIM:617102
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Congestive heart failure	OMIM:301021
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ...	OMIM:250460
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
17Q21.31 Microduplication Syndrome	Anteverted nares, Microcephaly, Micrognathia, Malar flattening, Short nose, Failure to thrive	ORPHA:217340
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Pectus excavatum, Cleft palate, Dysphagia, Respira...	OMIM:614399
Pyle Disease	Delayed eruption of teeth, Metaphyseal dysplasia, Mandibular prognathia, Persistence of primary t...	OMIM:265900
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Bowel incontinence, Wide a...	OMIM:616482
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Micrognathia, Kyphosis, High palate, Prenatal death, Campto...	OMIM:618393
Moebius Syndrome	Respiratory distress, Micrognathia, Feeding difficulties in infancy, High palate, Lower limb unde...	OMIM:157900
Arthrogryposis, Distal, Type 1C	Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly of toe, Wris...	OMIM:619110
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Autosomal Recessive Hypophosphatemic Rickets	Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic rickets, Sclerotic vertebral endplates, Ge...	ORPHA:289176
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, N...	OMIM:612651
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo...	ORPHA:93346
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies	Thin upper lip vermilion, Micrognathia, Feeding difficulties in infancy, 2-3 toe syndactyly, Shor...	OMIM:618608
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Single transverse palmar crease, Micrognathia, Respiratory insufficiency due ...	OMIM:611890
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a...	OMIM:608636
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Fibrochondrogenesis 2	Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast...	OMIM:614524
Scarf Syndrome	Barrel-shaped chest, Coronal craniosynostosis, Pectus carinatum, Abnormal form of the vertebral b...	OMIM:312830
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Microgn...	ORPHA:628
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, General...	ORPHA:85198
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Increased density of long bones, Single transverse palmar crease, Malar flattenin...	OMIM:269150
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Plagiocephaly, Flat occiput, Brachycephaly, Microcephaly	ORPHA:2898
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures...	OMIM:300009
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P...	OMIM:608728
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:613424
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o...	OMIM:617974
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Abnormal repetitive mannerisms	OMIM:606053
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre...	ORPHA:3098
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Distal Arthrogryposis Type 1	Camptodactyly of finger, Rocker bottom foot, Joint stiffness, Talipes, Ulnar deviation of finger,...	ORPHA:1146
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Abnormalit...	OMIM:609324
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Knee flexion contractu...	OMIM:114300
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion...	ORPHA:1145
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:607373
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Depressed nasal bridge, Microcephaly, Micrognathia, Flexion contracture, Brachycephaly, Failure t...	OMIM:620240
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Long palm, Arachnodactyly, Abnormality of the philtrum, Missing ribs, Aplas...	ORPHA:2759
Achondrogenesis, Type Ii	Microretrognathia, Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, S...	OMIM:200610
Peroxisome Biogenesis Disorder 8A (Zellweger)	Feeding difficulties in infancy, Epiphyseal stippling, Glossoptosis, Death in infancy	OMIM:614876
Multiple Epiphyseal Dysplasia Type 5	Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li...	ORPHA:93311
Isolated Pierre Robin Syndrome	Neonatal respiratory distress, Micrognathia, Upper airway obstruction, Cleft palate, Glossoptosis	ORPHA:718
Gnathodiaphyseal Dysplasia	Broad jaw, Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, S...	ORPHA:53697
Meier-Gorlin Syndrome 1	Respiratory distress, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the max...	OMIM:224690
Intellectual Developmental Disorder, Autosomal Recessive 58	Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617270
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe...	OMIM:614078
Potocki-Shaffer Syndrome	Prominent nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Micrognathia, Parietal forami...	ORPHA:52022
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala...	OMIM:612961
Chromosome 16P11.2 Deletion Syndrome, 593-Kb	Macrocephaly, Midface retrusion, Micrognathia	OMIM:611913
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
Intellectual Developmental Disorder, Autosomal Dominant 26	Inguinal hernia, Depressed nasal bridge, Anteverted nares, Small for gestational age, Micrognathi...	OMIM:615834
Cebalid Syndrome	Turricephaly, Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Depresse...	OMIM:618774
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Narrow mouth, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvi...	ORPHA:2370
Restrictive Dermopathy 2	Microretrognathia, Respiratory distress, Rectal prolapse, Hypoplastic facial bones, Feeding diffi...	OMIM:619793
Hypophosphatasia, Childhood	Premature loss of primary teeth, Craniosynostosis, Carious teeth, Bowing of the legs, Rachitic ro...	OMIM:241510
Auriculocondylar Syndrome 2A	Respiratory distress, Dental crowding, Apnea, Micrognathia, Microglossia, Dental malocclusion, Cl...	OMIM:614669
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hypopla...	OMIM:617895
Microcephaly-Microcornea Syndrome, Seemanova Type	Retrognathia, Brachycephaly, Microcephaly	ORPHA:2528
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Abdominal distention, Respiratory insufficiency, Stillbirth, Narrow...	OMIM:600972
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Limited elbow movement, Coxa vara, Pectus carinatum, Delayed calcaneal ossi...	OMIM:183900
Melnick-Needles Syndrome	Micrognathia, Narrow chest, Anisospondyly, Short thorax, Abnormal rib morphology, Cone-shaped epi...	ORPHA:2484
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Potocki-Shaffer Syndrome	Turricephaly, Underdeveloped nasal alae, Parietal foramina, Brachycephaly, Wide nasal bridge, Sho...	OMIM:601224
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Micrognathia, Abnormal rib morphology, Rib fusion, Abnorma...	ORPHA:1988
Orofaciodigital Syndrome Type 10	Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ...	ORPHA:2756
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle...	ORPHA:2790
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Slender build, Brachycephaly, Macrocephaly	OMIM:300699
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi...	ORPHA:85165
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch, Vertebral h...	OMIM:602557
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Trismus, Joint stiffness, Vertebral wed...	OMIM:616583
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M...	OMIM:227270
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Depressed nasal ridge, ...	ORPHA:1248
Diaphanospondylodysostosis	Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b...	OMIM:608022
Donnai-Barrow Syndrome	Malar flattening, Wide anterior fontanel, Short sternum, Intestinal malrotation	OMIM:222448
Mosaic Variegated Aneuploidy Syndrome 1	Micrognathia, Feeding difficulties in infancy, Cleft palate, Short sternum, Long philtrum, Malar ...	OMIM:257300
Dysostosis Multiplex, Ain-Naz Type	Glenoid fossa hypoplasia, Abdominal distention, Hip dislocation, Hemivertebrae, Flat acetabular r...	OMIM:619345
Schinzel-Giedion Syndrome	Respiratory distress, Abnormal clavicle morphology, Micrognathia, Abnormality of the gingiva, Tib...	ORPHA:798
Rhiny	Short nose, Anteverted nares, Inguinal hernia	OMIM:180360
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Kyphoscoliosis, Micrognathia, Narrow mouth, Whistling appearance, T...	OMIM:277720
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Gast...	OMIM:117650
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg...	ORPHA:85184
Familial Anetoderma	Irregular dentition, Lumbar hyperlordosis, High, narrow palate, Abnormal tibia morphology, Genera...	ORPHA:228277
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Midface retrusion, Broad nasal tip	ORPHA:2776
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Micrognathia, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respirat...	ORPHA:1832
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ...	ORPHA:93267
Satb2-Associated Syndrome Due To A Pathogenic Variant	Osteopenia, Thin upper lip vermilion, Joint hypermobility, Abnormality of the hand, Abnormality o...	ORPHA:576283
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
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Micrognathia, Unilambdoid synostosis, Brachycephaly, Wide nasal bridge, Plagioc...	OMIM:618577
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve...	OMIM:608751
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Hyperextensibil...	OMIM:601492
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Kyphosis,...	ORPHA:2635
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Thoracomelic Dysplasia	Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Jo...	ORPHA:1803
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toe...	ORPHA:3201
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Micrognathia, Reduced bone mineral density, Glossoptosis, Barrel-shaped c...	ORPHA:94068
Exostoses, Multiple, Type Ii	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133701
Exostoses, Multiple, Type I	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133700
Anauxetic Dysplasia 3	Femoral bowing, Oligodontia, Gastroesophageal reflux, Narrow chest, Trident hand, Short metacarpa...	OMIM:618853
Butyrylcholinesterase Deficiency	Congestive heart failure, Myocardial infarction	ORPHA:132
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Clark-Baraitser Syndrome	Depressed nasal bridge, Anteverted nares, Microcephaly, Brachycephaly, Obesity, Dolichocephaly, S...	OMIM:617752
N-Acetylaspartate Deficiency	Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation	OMIM:614063
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Feeding difficulties in infancy, Postax...	ORPHA:474
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Osteomalacia, Premature loss of primary teeth, Abnormality of the dentition, R...	ORPHA:93160
Gómez-López-Hernández Syndrome	Turricephaly, Anteverted nares, Brachycephaly, Midface retrusion	ORPHA:1532
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Micrognathia, Hyperlordosis, High, nar...	ORPHA:2780
Spondyloepimetaphyseal Dysplasia, Shohat Type	Laryngeal stenosis, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Ab...	ORPHA:93352
Ulnar-Mammary Syndrome	Deformed radius, Subglottic stenosis, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpa...	OMIM:181450
Joubert Syndrome 18	Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Cl...	OMIM:614815
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Micrognathia, Cleft palate, Talipes equinovarus, Arthrogryposis multiplex con...	OMIM:616570
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Acromegaloid Facial Appearance Syndrome	Joint hypermobility, Tapered finger, Micrognathia, Deep philtrum, Large hands, Thick vermilion bo...	OMIM:102150
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Broad nasal tip, Obesity, Macrocephaly, Malar flattening, Short nos...	OMIM:613670
Pseudodiastrophic Dysplasia	Frontal bossing, Anteverted nares, Micrognathia, Brachycephaly, Camptodactyly, Malar flattening, ...	OMIM:264180
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of the vertebr...	ORPHA:1856
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly, Midface retrusion	ORPHA:35099
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o...	ORPHA:2669
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ...	OMIM:616300
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Pes planus, Wormian bones, Recurrent fractur...	OMIM:610967
Achondrogenesis Type 1A	Short palm, Multiple rib fractures, Recurrent fractures, Micromelia, Micrognathia, Abnormal encho...	ORPHA:93299
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphys...	OMIM:177170
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morpholo...	OMIM:144750
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Wormian bones,...	OMIM:269300
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome	Micrognathia, Joint stiffness, Whistling appearance, Pierre-Robin sequence, Abnormal shoulder mor...	ORPHA:1150
Intellectual Developmental Disorder, X-Linked 1	Secondary microcephaly, Brachycephaly	OMIM:309530
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Internally rotated shoulders, Dental crowding, Ankle flexion c...	OMIM:617468
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Bronchiectasis	OMIM:241600
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Pes planus, Recurrent fractures, Coxa valga, Bowing of the legs, Pectus exca...	OMIM:619131
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormal distal phalanx morphology of finger, Abnormality of the hand, Micrognathia, Feeding diff...	ORPHA:1387
Spondyloepimetaphyseal Dysplasia, Irapa Type	Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin...	ORPHA:93351
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Pallister-Hall-Like Syndrome	Death in infancy, Toe syndactyly, Median cleft lip, Micromelia, Micrognathia, Postaxial hand poly...	OMIM:241800
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Short nose, Brachycephaly, Micrognathia	ORPHA:1514
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac crest serrat...	ORPHA:239
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening	OMIM:183700
Morbid Obesity And Spermatogenic Failure	Myocardial infarction, Congestive heart failure, Oligozoospermia, Azoospermia, Hypertension	OMIM:615703
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Rhizomelia, Micrognathia, Submucous cleft hard palate, Flexion contrac...	OMIM:222765
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Neonatal respiratory distress, Microgn...	OMIM:618356
Hydrops Fetalis, Nonimmune	Congestive heart failure	OMIM:236750
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,...	OMIM:604169
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Mandibular prognathia, Brachycephaly	OMIM:309545
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Death in infancy, Rocker bottom foot, Micrognathia, Feeding difficulties in infancy, Death in chi...	OMIM:618766
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Downturned corners of mouth, High palate, Narrow chest, Thoracic kyphosis, Abnormal...	ORPHA:163649
Atelosteogenesis Type Ii	Laryngeal stenosis, Cervical kyphosis, Micromelia, Micrognathia, Tracheobronchomalacia, Narrow ch...	ORPHA:56304
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Femoral retroversion, Micrognathia, Knee flexion contractur...	OMIM:616531
Endocardial Fibroelastosis	Cryptorchidism, Hypoplasia of penis, Congestive heart failure, Restrictive cardiomyopathy	ORPHA:2022
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the...	ORPHA:429
Radio-Renal Syndrome	Respiratory distress, Micromelia, Micrognathia, High, narrow palate, Dyspnea, Hypoplasia of the r...	ORPHA:3015
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Turricephaly, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Micrognathia, Brachycep...	ORPHA:171839
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Micrognathia, Cleft palate, Genu valgum, Joint hyperflexibility, Irregular ...	ORPHA:250984
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Gastrointestinal i...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Gastrointestinal i...	ORPHA:99228
Monosomy X	Osteopenia, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Gastrointestinal i...	ORPHA:99226
Turner Syndrome	Osteopenia, Micrognathia, High, narrow palate, Dermatoglyphic ridges abnormal, Gastrointestinal i...	ORPHA:881
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Osteomalacia, Coxa valga, Avascular necrosis of the capital femora...	ORPHA:1901
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s...	ORPHA:1275
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Aggressive behavior, Chorea, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive ...	OMIM:619150
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Pectus carinatum, Vertebral segmentation defect, Narrow greater sciatic no...	OMIM:312870
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ...	ORPHA:2928
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro...	ORPHA:63446
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,...	ORPHA:100973
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Bowing of the legs, Micrognathia, Flexion contracture, Narrow chest, Pterygium, Aniso...	ORPHA:1865
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa...	ORPHA:249
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Acrodysostosis	Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the r...	ORPHA:950
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
Oculofaciocardiodental Syndrome	Feeding difficulties in infancy, Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short ...	ORPHA:2712
Aminopterin Syndrome Sine Aminopterin	Frontal bossing, Inguinal hernia, Decreased body weight, Micrognathia, Microcephaly, Brachycephal...	OMIM:600325
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Pierpont Syndrome	Wide nose, Broad nasal tip, Microcephaly, Brachycephaly, Decreased body weight, Malar flattening,...	OMIM:602342
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Abnormal dental...	ORPHA:319195
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Kyphosis, Thick ...	OMIM:300602
Pierpont Syndrome	Small for gestational age, Wide nasal ridge, Abnormal subcutaneous fat tissue distribution, Brach...	ORPHA:487825
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Congestive heart failure, Dilated cardiomyopathy, Azoospermia, Car...	OMIM:602390
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ...	OMIM:613091
Chromosome 3Pter-P25 Deletion Syndrome	Flat occiput, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Micrognathia, Bro...	OMIM:613792
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Choanal atresia, Craniosynostosis, Midface retrusion	OMIM:612247
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Coffin-Siris Syndrome 1	Single transverse palmar crease, Conical tooth, Feeding difficulties in infancy, Prominent interp...	OMIM:135900
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Micrognathia, Microcephaly, Brachycephaly, Joint contracture, Short nose	OMIM:615419
Ring Chromosome 8 Syndrome	Frontal bossing, Short nose, Anteverted nares	ORPHA:1450
Short Stature, Brussels Type	Microretrognathia, Delayed epiphyseal ossification, Narrow chest, Calcification of cartilage	ORPHA:2867
Macrocephaly-Intellectual Disability-Autism Syndrome	Frontal bossing, Depressed nasal bridge, Multiple lipomas, Macrocephaly, Short nose, Midface retr...	ORPHA:210548
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,...	OMIM:251450
Sillence Syndrome	Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular roof, Bulbou...	ORPHA:3168
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares, Micrognathia	ORPHA:2015
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Gingival...	OMIM:616331
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Meta...	OMIM:255800
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognath...	OMIM:620369
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Kyphoscoliosis, Micrognathia,...	OMIM:215100
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Dental crowding, Metaphyseal widening, Cranial hyperostosis, Flared metaph...	OMIM:123000
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Metaphyseal widening, Pectus carinatum, Knee di...	OMIM:615777
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Delayed epiphyseal o...	ORPHA:226313
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Pierre-Robin sequence, Premature osteoarthritis, Cleft ...	OMIM:184840
Tetrasomy 9P	Joint dislocation, Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short...	ORPHA:3310
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Midface retrusion, Microcephaly	DECIPHER:52
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis...	OMIM:612350
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Micrognathia, Limited knee fl...	OMIM:615065
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Atransferrinemia	Congestive heart failure	OMIM:209300
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Micrognathia...	OMIM:258860
Ear-Patella-Short Stature Syndrome	Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly ...	ORPHA:2554
Isolated Osteopoikilosis	Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ...	ORPHA:166119
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Edema of the dorsum of feet, Tapered finger, Flexion contracture, Hyperexte...	ORPHA:544503
Hypophosphatasia, Infantile	Death in infancy, Apnea, Micromelia, Bowing of the legs, Abnormality of the dentition, Anorexia, ...	OMIM:241500
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Joint stiffness, Adducted thumb, U...	ORPHA:1147
Pycnodysostosis	Increased bone mineral density, Persistent open anterior fontanelle, Aplastic clavicle, Persisten...	OMIM:265800
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abnormality of the philtrum, Micromelia...	ORPHA:1597
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Narrow nasal bridge, Flat occiput, Microcephaly, Abnormal zygomatic bone m...	ORPHA:2511
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly, Microcephaly	OMIM:620200
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Frontal bossing, Hip contracture, Anteverted nares, Prominent nasal bridge, Cachexia, Prominent n...	OMIM:616801
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder	OMIM:618709
Holzgreve Syndrome	Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Joi...	ORPHA:2167
Qazi-Markouizos Syndrome	Tapered finger, Pectus excavatum, High, narrow palate, Abdominal distention, Hypoplasia of teeth,...	ORPHA:3010
Blomstrand Lethal Chondrodysplasia	Micrognathia, Narrow chest, Distal shortening of limbs, Short metacarpal, Increased bone mineral ...	ORPHA:50945
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte...	OMIM:216340
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial...	OMIM:617088
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Micrognathia, Kyphosis, Flexion contracture, Hip dislocation, Elbow flexion contracture...	ORPHA:75840
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Meta...	OMIM:224400
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Arachnodactyly, Long foot, Micrognathia, High, narrow palate, Dyspnea, Feed...	ORPHA:2707
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms	OMIM:617862
Bardet-Biedl Syndrome 16	Respiratory distress, Polydactyly	OMIM:615993
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala...	ORPHA:1506
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Weaver Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Micrognathia, Feeding difficulties in inf...	ORPHA:3447
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C...	OMIM:620107
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,...	OMIM:271225
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Small for gestational age, Wide nasal bridge, Microcephaly	OMIM:618302
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh...	OMIM:300106
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Cleft soft palate, Abnormality of the dentition, Micrognathia, Gingival...	OMIM:618529
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Fetal Trimethadione Syndrome	Depressed nasal bridge, Micrognathia, Microcephaly, Brachycephaly, Short nose, Midface retrusion	ORPHA:1913
Ck Syndrome	Dental crowding, Micrognathia, Hyperlordosis, Kyphosis, High palate, Scoliosis, Malar flattening,...	OMIM:300831
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Respiratory distress, Ankle flexion contracture, Micrognathia, High, narrow palate, S...	OMIM:608799
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br...	ORPHA:1278
Peroxisomal Acyl-Coa Oxidase Deficiency	Frontal bossing, Brachycephaly, Depressed nasal bridge, Wide nasal bridge	OMIM:264470
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat...	OMIM:271650
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Anteverted nares, Microcephaly, Bulbous nose, Brachycephaly, Wide nasal bridge, Decreased body we...	OMIM:300958
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Sho...	OMIM:118651
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Micrognathia, Joint stiffness, Cleft palate, Respiratory insufficiency, Tooth agenesis, Vertebral...	ORPHA:1166
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl...	ORPHA:2141
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the...	ORPHA:313855
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus cari...	OMIM:253000
Xq28 (MECP2) duplication	Depressed nasal bridge, Microcephaly, Brachycephaly, Malar flattening, Failure to thrive	DECIPHER:45
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Frontal bossing, Microcephaly, Brachycephaly, Macrocephaly, Plagiocephaly,...	OMIM:619721
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Feeding difficulti...	OMIM:611209
Greenberg Dysplasia	Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Pa...	OMIM:215140
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Lujan-Fryns Syndrome	Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Brachyc...	ORPHA:776
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Death in infancy, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality...	ORPHA:163966
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis, Enlarged joints, Bowing of the legs, Pectus excavatum, Limb undergrowth, Li...	ORPHA:156728
Coxopodopatellar Syndrome	Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog...	ORPHA:1509
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Congenital Left Ventricular Aneurysm	Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, Ovoid vertebral bodies...	OMIM:260400
Charlie M Syndrome	Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis,...	ORPHA:1406
Congenital Heart Defects And Ectodermal Dysplasia	Frontal bossing, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Microcephaly, ...	OMIM:617364
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening...	ORPHA:536467
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Failure to thrive, Brachycephaly, Microcephaly	OMIM:309541
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Verte...	OMIM:272460
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu...	OMIM:602418
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Pectus carinatum, Gastroesophageal ref...	ORPHA:198
Craniosynostosis, Herrmann-Opitz Type	Turricephaly, Craniosynostosis, Micrognathia, Brachycephaly, Malar flattening, Short nose, Convex...	ORPHA:2145
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi...	OMIM:603546
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp...	OMIM:215150
Osteopetrosis, Autosomal Dominant 1	Calvarial osteosclerosis, Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Ost...	OMIM:607634
Achondrogenesis	Frontal bossing, Inguinal hernia, Anteverted nares, Micrognathia, Macrocephaly, Umbilical hernia,...	ORPHA:932
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Brachycephaly, Malar f...	ORPHA:93262
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia...	OMIM:609425
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Stickler Syndrome, Type I	Arthropathy, Arachnodactyly, Micrognathia, Pectus excavatum, Joint stiffness, Irregular femoral e...	OMIM:108300
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Hemivertebrae, Pectus ca...	ORPHA:2911
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Narrow mouth, W...	OMIM:201170
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Single transverse palmar crease, Micrognathia, Pierre-Robin sequence, F...	OMIM:613604
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Inguinal hernia, Microcephaly, Brachycephaly, Plagiocephaly, Failure to thrive	OMIM:618603
Hyperprolinemia, Type I	Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior	OMIM:239500
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Micrognathia, Feeding difficulties, Short foot, High palate, Joint contracture of the 5th finger,...	OMIM:248910
Orofaciodigital Syndrome Type 2	Apnea, Micrognathia, Complete duplication of hallux phalanx, Tachypnea, Finger clinodactyly, High...	ORPHA:2751
Arthrochalasia Ehlers-Danlos Syndrome	Joint dislocation, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Micrognathia,...	ORPHA:1899
Pentasomy X	Camptodactyly of finger, Micrognathia, Small hand, Short foot, Radioulnar synostosis, Hip dysplas...	ORPHA:11
Acrocephalopolydactyly	Genu recurvatum, Short long bone, Protuberant abdomen, Limb undergrowth, Thoracic hypoplasia, Bra...	ORPHA:221054
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Thin upper lip vermilion, Death in infancy, Neonatal respiratory distress, ...	OMIM:615042
Mosaic Trisomy 14	Camptodactyly of finger, Micrognathia, Lower limb asymmetry, Abnormal rib morphology, Cleft palat...	ORPHA:1703
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Thoracic kyphoscoliosis, Vertebral fusion, Dental crowding, Lum...	ORPHA:313892
Chung-Jansen Syndrome	Tapered finger, Micrognathia, Feeding difficulties, Hip dysplasia, Thin vermilion border, High pa...	OMIM:617991
Trigonocephaly 1	Omphalocele, Craniosynostosis, Microcephaly, Wide nasal bridge, Trigonocephaly, Short nose	OMIM:190440
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde...	ORPHA:1159
Perlman Syndrome	Inguinal hernia, Anteverted nares, Femoral hernia, Micrognathia, Wide nasal bridge, Macrocephaly,...	ORPHA:2849
Bent Bone Dysplasia Syndrome 1	Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Bell-shap...	OMIM:614592
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Mic...	OMIM:217980
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Bulbous nose, Midface retrusion, Progressive microcephaly	OMIM:618737
Coffin-Siris Syndrome 11	Prominent metopic ridge, Cleft soft palate, Feeding difficulties in infancy, Esophageal atresia, ...	OMIM:618779
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ...	ORPHA:83
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Mandibular prognathia, Anteverted nares, Depressed nasal ridge, Brachycephaly, Prominent occiput,...	OMIM:618672
Cleidocranial Dysplasia 2	Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Delayed eruption o...	OMIM:620099
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Feeding difficulties in infancy, Aplasia of the pe...	ORPHA:570
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Cleft soft palate, Micrognathia, Pectus excav...	OMIM:606851
Stickler Syndrome, Type Ii	Arthropathy, Arachnodactyly, Micrognathia, Long fingers, High, narrow palate, Pierre-Robin sequen...	OMIM:604841
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat...	OMIM:147891
Pallister-Hall Syndrome	Hemivertebrae, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Accessory or...	ORPHA:672
Stüve-Wiedemann Syndrome	Osteopenia, Respiratory distress, Apnea, Micromelia, Feeding difficulties in infancy, Metaphyseal...	ORPHA:3206
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasi...	ORPHA:3082
Achard Syndrome	Broad skull, Brachycephaly, Micrognathia	OMIM:100700
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft palate, Bifid uvula	ORPHA:2521
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	High palate, Abnormal morphology of ulna, Abnormal metacarpal morphology	ORPHA:2233
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Pectus carinatum, Cone...	OMIM:190350
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal...	ORPHA:90652
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Asthma, Coxa vara, ...	OMIM:616716
2Q32Q33 Microdeletion Syndrome	Broad hallux phalanx, Arachnodactyly, Dental crowding, Micrognathia, Narrow mouth, Cleft palate, ...	ORPHA:251019
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Prominent metopic ridge, Tented upper lip vermilion, Apnea...	ORPHA:314655
Pontocerebellar Hypoplasia, Type 1B	Tongue atrophy, Abnormal foot morphology, Flexion contracture, Hip dislocation, Respiratory insuf...	OMIM:614678
Temtamy Syndrome	Pes planus, Micrognathia, Short toe, Thick lower lip vermilion, Genu varum, Joint hyperflexibilit...	ORPHA:1777
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
German Syndrome	Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Brachycephaly, Wide nasal bridge, ...	ORPHA:2077
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Microcephaly, Delayed eruption of permanent teeth, Trigonocephaly, Short nose	OMIM:618506
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Thoracolumbar scoliosis, Micrognathia, Metatarsus adductus, Shor...	ORPHA:436003
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol...	ORPHA:3429
Cleft Palate-Large Ears-Small Head Syndrome	Micrognathia, Pectus excavatum, Gingival overgrowth, Cleft palate, Ulnar deviation of finger, Sho...	ORPHA:2013
Rhizomelic Syndrome	Rhizomelia, Micrognathia, Bifid distal phalanx of the thumb, Wide anterior fontanel, Hip dislocat...	OMIM:268250
Congenital Myopathy 20	Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe joint contracture, Microgna...	OMIM:620310
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Decreased calvarial o...	OMIM:618265
Craniofrontonasal Dysplasia	Frontal bossing, Camptodactyly of finger, Craniosynostosis, Congenital diaphragmatic hernia, Micr...	ORPHA:1520
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger,...	OMIM:601680
Auriculocondylar Syndrome	Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of t...	ORPHA:137888
Crouzon Syndrome	Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Brachycephaly, Multipl...	ORPHA:207
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio...	OMIM:617047
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Hemivertebrae, Coxa vara, Pectus carinatum, Gastroesophageal ref...	OMIM:614701
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Hypoplasi...	ORPHA:1529
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short columella, Dental malocclusion, Short nose	OMIM:155050
Cornelia De Lange Syndrome 5	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Micrognathia, ...	OMIM:300882
Craniosynostosis 2	Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Triphalangeal thu...	OMIM:604757
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Micrognathia, Pectus excavatum, Malar p...	ORPHA:2522
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Brachycephaly, Obesity, Wide nasal bridge, Microcephaly	ORPHA:352530
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose, Small for gestational age, Primary microcephaly	OMIM:245570
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Pectus excavatum, High, narrow pal...	ORPHA:957
Hemochromatosis, Type 2B	Congestive heart failure, Hypogonadism, Cardiomyopathy	OMIM:613313
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Irregular fe...	OMIM:613805
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular e...	OMIM:614096
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Limitation ...	ORPHA:1486
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Pathologic fract...	ORPHA:83468
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Hypoplastic scapulae, Camptodactyly of finger, Long fingers, Thick lower lip vermi...	OMIM:256040
Osteogenesis Imperfecta, Type Xiii	Femoral bowing, Pectus carinatum, Enlarged thorax, Reduced bone mineral density, Dentinogenesis i...	OMIM:614856
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Epilepsy, Progressive Myoclonic, 9	Short thumb, Microglossia, Scoliosis	OMIM:616540
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,...	ORPHA:457395
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli...	OMIM:616229
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d...	ORPHA:968
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Anterior wedging of...	OMIM:164745
Craniosynostosis 6	Turricephaly, Craniosynostosis, Microcephaly, Parietal foramina, Brachycephaly, Plagiocephaly, Ri...	OMIM:616602
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Micrognathia, Small hand, Feeding difficulties, Short foot, High palate, Short philtrum, Scoliosi...	ORPHA:254531
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Seckel Syndrome 1	Dental crowding, Abnormal finger flexion crease, Single transverse palmar crease, Selective tooth...	OMIM:210600
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Microce...	ORPHA:1327
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Micrognathia, Crowded maxillary incisors, Lower limb asymmetry, Abnormal...	ORPHA:2063
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Intestinal malrotation, Micrognathia, Carious teeth, Talon cusp, Dental...	OMIM:613684
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar...	OMIM:618291
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Camptodactyly of finger, Micrognathia, Kyphoscoliosis, Adducted thumb, Flared...	OMIM:610758
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Feeding difficulties in infancy, Sh...	ORPHA:193
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Hip contracture, Pursed lips, Neonatal respiratory distress, Micrognathia, Meta...	OMIM:616266
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Micrognathia, Lower...	OMIM:615761
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Micrognathia, High, narrow palate, Flexion contracture, Knee flexion...	ORPHA:536516
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Respiratory distress, Rocker bottom foot, Feeding difficulties, Dysphagia, Add...	ORPHA:89844
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Hypoplasia of t...	ORPHA:2588
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ...	ORPHA:2050
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Frontal bossing, Depressed nasal bridge, Bulbous nose, Brachycephaly, Obesity, Plagiocephaly, Mac...	OMIM:618430
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Chromosome 16Q22 Deletion Syndrome	Prominent metopic ridge, Broad hallux, Single transverse palmar crease, Micrognathia, Wide anteri...	OMIM:614541
Acrocraniofacial Dysostosis	Craniosynostosis, Tapered finger, Coxa valga, Micrognathia, Pectus excavatum, Cleft palate, Ulnar...	ORPHA:949
Hyperparathyroidism, Transient Neonatal	Osteopenia, Respiratory distress, Wide cranial sutures, Short femur, Metaphyseal spurs, Recurrent...	OMIM:618188
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Failure to thrive, Micrognathia, Hypoplasia of the maxilla, Broad nasal ti...	OMIM:620157
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Achondrogenesis Type 1B	Frontal bossing, Anteverted nares, Femoral hernia, Micrognathia, Macrocephaly, Umbilical hernia, ...	ORPHA:93298
Wieacker-Wolff Syndrome	Apnea, Proximal placement of thumb, Micrognathia, High palate, Narrow chest, Neonatal respiratory...	OMIM:314580
Developmental And Epileptic Encephalopathy 58	Inability to walk, Abnormal repetitive mannerisms	OMIM:617830
Pontocerebellar Hypoplasia, Type 3	Depressed nasal bridge, Brachycephaly, Progressive microcephaly, Decreased body weight	OMIM:608027
Meier-Gorlin Syndrome 3	Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Gastroesophageal reflux,...	OMIM:613803
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Short humerus, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal ga...	OMIM:607143
Pfeiffer Syndrome Type 2	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota...	ORPHA:93259
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Abnormal form of the vertebral ...	ORPHA:2636
Atelosteogenesis Type I	Joint dislocation, Laryngeal stenosis, Short femur, Rhizomelia, Micrognathia, Malrotation of colo...	ORPHA:1190
Recombinant Chromosome 8 Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Brachycephaly, Secondary microcephaly, Ca...	OMIM:179613
17P13.3 Microduplication Syndrome	Frontal bossing, Wide nose, Inguinal hernia, Short nose	ORPHA:217385
Atelosteogenesis Type Iii	Short tubular bones of the hand, Micrognathia, Knee dislocation, High palate, Short tibia, Verteb...	ORPHA:56305
Mucopolysaccharidosis Type 4	Joint dislocation, Bowing of the long bones, Abnormal dental enamel morphology, Coxa valga, Grayi...	ORPHA:582
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Ost...	OMIM:212720
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun...	OMIM:618052
Crisponi Syndrome	Death in infancy, Camptodactyly of finger, Micrognathia, Narrow mouth, Kyphosis, Flexion contract...	ORPHA:1545
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Congestive heart failure, Left ventricular outflow tra...	OMIM:614980
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Recurrent fractures, Microg...	ORPHA:3409
Cornelia De Lange Syndrome 2	Anteverted nares, Prominent nasal bridge, Microcephaly, Micrognathia, Brachycephaly	OMIM:300590
Osteogenesis Imperfecta, Type Vii	Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,...	OMIM:610682
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Macrocephaly, Slender b...	OMIM:300676
9Q21.13 Microdeletion Syndrome	Talipes, Craniosynostosis, Abnormal tongue morphology, Gastrointestinal dysmotility, Downturned c...	ORPHA:531151
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Tented upper lip vermilion, Overlapping toe, Flexion contracture, Pectus ca...	OMIM:619383
3M Syndrome	Congenital hip dislocation, Micromelia, Increased vertebral height, Enlarged thorax, Clinodactyly...	ORPHA:2616
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To...	ORPHA:2863
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Barrel-shaped chest, Short metacarpal, Enlarged joints, Rhizomelia, Ky...	ORPHA:263463
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widen...	OMIM:259770
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Truncal obesity, Short nose, Macrocephaly	ORPHA:2429
Van Bogaert-Hozay Syndrome	Tooth malposition, Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micr...	OMIM:277150
Smith-Mccort Dysplasia 2	Mandibular prognathia, Short metatarsal, Pectus carinatum, Short phalanx of finger, Barrel-shaped...	OMIM:615222
Combined Oxidative Phosphorylation Deficiency 17	Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:615440
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Micrognathia, Feeding difficulties in infancy, Acromicria, Small hand, Short foot, Downturned cor...	ORPHA:254525
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar...	OMIM:250420
Muenke Syndrome	Dental malocclusion, Brachycephaly, Plagiocephaly, Macrocephaly, Malar flattening, Coronal cranio...	OMIM:602849
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Pes planus, Kyphoscoliosis, Tapered finger, Carious teeth, Narrow mouth, Micrognathia...	OMIM:272430
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Wormian bones, Decreased fibul...	OMIM:616897
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Pectus carinatum, Irregular vertebral e...	OMIM:271700
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Anteverted nares, Brachycephaly	OMIM:618859
Pycnodysostosis	Abnormal clavicle morphology, Obtuse angle of mandible, Persistent open anterior fontanelle, Micr...	ORPHA:763
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Neonatal respiratory distress, Bowed humerus, Short lingual frenul...	OMIM:619479
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the...	ORPHA:1788
X-Linked Intellectual Disability, Wilson Type	Mandibular prognathia, Inguinal hernia, Brachycephaly, Microcephaly	ORPHA:85290
Presynaptic Congenital Myasthenic Syndromes	Congenital hip dislocation, Pectus carinatum, High palate, Gastroesophageal reflux, Microretrogna...	ORPHA:98914
Congenital Myasthenic Syndrome	Congenital hip dislocation, Pectus carinatum, High palate, Gastroesophageal reflux, Microretrogna...	ORPHA:590
Hypophosphatasia, Adult	Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t...	OMIM:146300
Chromosome 3Q29 Duplication Syndrome	Microcephaly, Bulbous nose, Wide nasal bridge, Obesity, Macrocephaly, Short nose	OMIM:611936
Seckel Syndrome 5	11 pairs of ribs, Pes planus, Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, ...	OMIM:613823
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia...	OMIM:212780
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Failure to thrive, Flat occiput, Prominent nasal bridge, Microcephaly, Flexion contracture, Brach...	OMIM:617452
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Small for gestational age, Hypoplasia of the maxilla, Congenital generalized lipodystrophy, Gener...	OMIM:608154
Cardiocranial Syndrome, Pfeiffer Type	Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, E...	ORPHA:2872
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to...	ORPHA:989
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Laryngeal stenosis, Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delaye...	ORPHA:93360
Jackson-Weiss Syndrome	Mandibular prognathia, Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Midface retrusio...	ORPHA:1540
Sporadic Fetal Brain Disruption Sequence	Prominent occiput, Plagiocephaly, Microcephaly	ORPHA:1665
Summitt Syndrome	Wide nose, Camptodactyly of finger, Craniosynostosis, Depressed nasal ridge, Obesity, Plagiocepha...	ORPHA:3210
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Protruding tongue, Gingival overgrowth, Reduced bone ...	ORPHA:561
Intellectual Developmental Disorder, X-Linked 91	Short nose, Obesity	OMIM:300577
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Joint stiffness, Non-mi...	ORPHA:245
Congenital Disorder Of Glycosylation, Type Il	Frontal bossing, Depressed nasal bridge, Microcephaly, Brachycephaly, Short nose, Failure to thrive	OMIM:608776
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Pericallosal lipoma, Broad nasal tip, Hypoplasia of the maxilla, Bifid ...	OMIM:136760
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia, Recurrent aspi...	OMIM:300484
Coffin-Siris Syndrome 6	Kyphoscoliosis, Micrognathia, Pectus excavatum, High, narrow palate, Deep philtrum, Cleft palate,...	OMIM:617808
Chopra-Amiel-Gordon Syndrome	Microcephaly, Flared nostrils, Brachycephaly, Macrocephaly, Thick nasal alae, Midface retrusion	OMIM:619504
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Missing ribs, Micrognathia, Humeroradial synostosis, Cra...	OMIM:251230
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Abnormal form of the vertebral bo...	ORPHA:73230
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c...	OMIM:611705
Pancreas, Annular	Annular pancreas	OMIM:167750
Annular Pancreas	Annular pancreas	ORPHA:675
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Congenital diaphragmatic hernia, Underdeveloped nasal alae, Micrognathia, Microcepha...	OMIM:263210
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Broad nasal tip, Micrognathia, Brachycephaly, Macrocephaly, Failure to...	OMIM:609757
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi...	OMIM:612847
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Long foot, Abnormal thumb morphology, Metatarsus adductus, Tibial bowing, Macroglossia, Large han...	ORPHA:500095
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Typical Nemaline Myopathy	Micrognathia, Pectus excavatum, Hyperlordosis, Kyphosis, Flexion contracture, Hip dislocation, Re...	ORPHA:171436
19P13.3 Microduplication Syndrome	Pes cavus, Kyphoscoliosis, Micrognathia, Long fingers, Hip dislocation, Osteoporosis, Cleft palat...	ORPHA:447980
Cednik Syndrome	Congestive heart failure, Hypogonadism	ORPHA:66631
Camurati-Engelmann Disease	Anorexia, Feeding difficulties in infancy, Abnormal tibia morphology, Craniofacial osteosclerosis...	ORPHA:1328
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Developmental And Epileptic Encephalopathy 30	Death in infancy, Abnormal repetitive mannerisms	OMIM:616341
Kinsship Syndrome	Mandibular prognathia, Osteopenia, Single transverse palmar crease, Micrognathia, Downturned corn...	OMIM:619297
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Joint laxity, Respiratory distress, Postaxial polydactyly, Tapered finger, Abnormality of the den...	OMIM:300968
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Micrognathia, Wrist swelling, Limitation of joint mobility, Osteolysis, ...	ORPHA:2774
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Osteoarthritis, Pectus carinatum, High palate, Bilateral coxa valga, ...	OMIM:615582
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares	ORPHA:1355
Trisomy 8Q	Camptodactyly of finger, Micrognathia, Joint stiffness, Non-midline cleft lip, Bone cyst, Orofaci...	ORPHA:1752
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Gen...	ORPHA:2831
Trichorhinophalangeal Syndrome Type 2	Joint dislocation, Thin upper lip vermilion, Bilateral single transverse palmar creases, Talipes,...	ORPHA:502
Chitayat Syndrome	Hallux valgus, Respiratory distress, Pectus excavatum, Thick vermilion border, Tracheomalacia, Br...	OMIM:617180
Sandhoff Disease	Congestive heart failure	ORPHA:796
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Primary testicular failure, Atrial fib...	OMIM:115250
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Abnormality of the dentition, Avascular necrosis of th...	ORPHA:77258
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis...	OMIM:194350
Opsismodysplasia	Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Short metacarpal...	OMIM:258480
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Micrognathia, Abnormal foot morphology, Flexion contracture, 2-3 toe synd...	OMIM:618186
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Microretrognathia, Joint laxity, Joint dislocation, High palate, Short clavicles, Short 4th metac...	OMIM:606220
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Anisospondyly, Respiratory insufficiency, Sho...	OMIM:224410
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Congestive heart failure	OMIM:300886
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Thin long bone diaphyses, Recurrent fractures, Kyphoscoliosis, Hip d...	OMIM:616507
Familial Cutaneous Collagenoma	Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Orofacial Cleft 13	Oligodontia, Cleft soft palate, Micrognathia	OMIM:613857
Thoracolaryngopelvic Dysplasia	Laryngeal stenosis, Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, ...	OMIM:187760
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Frontal bossing, Inguinal hernia, Brachycephaly, Atrophic scars, Camptodactyly, Short nose, Midfa...	OMIM:615539
Mandibuloacral Dysplasia	Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, Contractures of t...	ORPHA:2457
Chromosome 5P13 Duplication Syndrome	Frontal bossing, Turricephaly, Small for gestational age, Craniosynostosis, Bulbous nose, Brachyc...	OMIM:613174
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Proximal placement of thumb, Micrognathia, Feeding difficulties in infancy,...	OMIM:610536
Short Stature-Micrognathia Syndrome	Joint laxity, Rhizomelia, Bowing of the legs, Coxa valga, Micrognathia, Metaphyseal widening, 2-3...	OMIM:617164
Chromosome 2Q37 Deletion Syndrome	Wide nose, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Brachycephaly, Obesity, Mal...	OMIM:600430
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:619470
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Slender nose, Micrognathia, Microcephaly, Flexion contracture, Wide nasal bridge, Brachycephaly, ...	ORPHA:562528
Bardet-Biedl Syndrome 8	Brachycephaly, Obesity	OMIM:615985
2Q31.1 Microdeletion Syndrome	Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Vertebral se...	ORPHA:251014
Myopathy, Centronuclear, 5	Hip contracture, Micrognathia, Respiratory insufficiency, High palate, Narrow mouth, Retrognathia...	OMIM:615959
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Thin ribs, Feeding difficulties, High palate, Neonatal de...	OMIM:300219
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Joint stiffness, Hyperlordosis, Narrow ...	ORPHA:1323
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Brachycephaly, Primary microcephaly...	OMIM:618828
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Frontal bossing, Micrognathia, Thin calvarium, Short nose, Midface retrusion	ORPHA:1129
Larsen-Like Syndrome	Frontal bossing, Dental malocclusion, Brachycephaly, Absent nasal bridge, Macrocephaly, Malar fla...	OMIM:608545
Tetrasomy 5P	Respiratory distress, Overlapping toe, Short hallux, Micrognathia, Pectus excavatum, Long fingers...	ORPHA:3309
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Frontal bossing, Depressed nasal bridge, Brachycephaly, Craniosynostosis	ORPHA:314575
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Pulmonary arterial hypertension	OMIM:616045
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Prominent nasal tip, Frontal bossing, Depressed nasal bridge, Abnormal den...	ORPHA:439822
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo...	ORPHA:1458
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Brachycephaly, Microcephaly	ORPHA:320385
Xylt1-Cdg	Joint laxity, Pes planus, Joint dislocation, Coxa valga, Flared metaphysis, Cleft palate, Short l...	ORPHA:370930
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Decreased body weight	ORPHA:93945
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Inability to walk, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repeti...	OMIM:618718
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Dysostosis, Stanescu Type	Narrow nasal bridge, Abnormal dental enamel morphology, Microcephaly, Hypoplasia of the maxilla, ...	ORPHA:1798
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Pterygium, Micromelia, Micrognathia, Elbow disloca...	ORPHA:93329
Gomez-Lopez-Hernandez Syndrome	Turricephaly, Anteverted nares, Craniosynostosis, Brachycephaly, Skull asymmetry, Malar flattenin...	OMIM:601853
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp...	OMIM:540000
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Hypoplasia of the zygomatic bone, Macrocephaly, Malar flattening, Short nose	ORPHA:2835
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Thin upper lip vermilion, Everted upper lip vermilion, Micrognathia, Deep philtrum, Pierre-Robin ...	OMIM:618381
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greater sciatic no...	OMIM:617925
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Thoracolumbar scoliosis, Micrognathia, Flexion contracture, Everted low...	OMIM:616549
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure	OMIM:616794
Chromosome 6Q11-Q14 Deletion Syndrome	Inguinal hernia, Prominent nasal bridge, Broad nasal tip, Micrognathia, Microcephaly, Primary mic...	OMIM:613544
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Mal...	ORPHA:93328
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re...	OMIM:614473
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Micrognathia, Pyloric stenosis, Small hand, Cleft palate, Feeding difficulties, Short foot, High ...	ORPHA:96184
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen...	OMIM:142900
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly, Obesity, Macrocephaly	OMIM:618725
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Tented upper lip vermilio...	OMIM:616723
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, Brachycephaly, Pl...	ORPHA:369891
Fg Syndrome 5	Trigonocephaly, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Hypoglossia With Situs Inversus	Respiratory distress, Micrognathia, Feeding difficulties in infancy, Malnutrition, Upper airway o...	OMIM:612776
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Downturned corners of mouth, Ever...	OMIM:615162
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Brachycephaly, Microcephaly	OMIM:615031
Temple Syndrome	Micrognathia, Flexion contracture, Small hand, Cleft palate, Feeding difficulties, Short foot, Hi...	OMIM:616222
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Relative macrocephaly, Inguinal hernia, Depressed nasal bridge, Sagittal craniosynostosis, Microg...	ORPHA:459061
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Pectus carinatum, Downturned corners o...	ORPHA:1507
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Everted lower lip vermilion, Long...	ORPHA:357175
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma...	ORPHA:166108
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Severe X-Linked Mitochondrial Encephalomyopathy	Feeding difficulties in infancy, Respiratory insufficiency, Tongue fasciculations, Respiratory di...	ORPHA:238329
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Wide nose, Flat occiput, Limb joint contracture, Prominent nasal bridge, Failure to thrive, Micro...	ORPHA:505237
Frontonasal Dysplasia 2	Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Wide nasal r...	OMIM:613451
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Metaphyseal cupping, Genu varum	OMIM:619073
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	OMIM:608099
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, Widely space...	OMIM:253220
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Micrognathia, Narrow palate, Femoral bowing, Macroglossia, Short ...	OMIM:617022
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Barrel-...	OMIM:226980
Choanal Atresia	Respiratory distress, Subglottic stenosis, Craniosynostosis, Upper airway obstruction, Feeding di...	ORPHA:137914
Crouzon Syndrome	Mandibular prognathia, Frontal bossing, Sagittal craniosynostosis, Hypoplasia of the maxilla, Bra...	OMIM:123500
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Cartilage-Hair Hypoplasia	Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Short palm, Joint laxity, Lumbar h...	OMIM:250250
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid...	ORPHA:85167
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Feeding difficulties, Platyspondyly, Th...	OMIM:619638
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Brachycephaly, ...	OMIM:619995
Even-Plus Syndrome	Bifid nasal tip, Depressed nasal ridge, Brachycephaly, Short nose, Midface retrusion	OMIM:616854
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Multiple joint contractures, Nasogastric tube feeding in infancy, Metaphyse...	ORPHA:99646
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Rickets, Tooth abscess, Bowing of the legs	ORPHA:89937
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Respiratory distress, Bilateral single transverse palmar creases, Micromelia, L...	ORPHA:50810
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Flexion contracture, Brachycephaly, Wide nasal bridge, Short nose	OMIM:218000
20P12.3 Microdeletion Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Macrocephaly, Malar flattening	ORPHA:261295
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Re...	OMIM:609465
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Brachycephaly, Abnormal shape of the occiput, Malar flattening, Brachyturricepha...	OMIM:218350
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Arachnodactyly, Micrognathia, Cleft palate, Narrow mouth, Malar flattening	ORPHA:93946
Native American Myopathy	Joint laxity, Micrognathia, Cleft palate, Feeding difficulties, Downturned corners of mouth, Resp...	ORPHA:168572
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Prominent nasal bridge, Microcephaly, Hypoplasia of the maxilla, Macroce...	ORPHA:85279
Burn-Mckeown Syndrome	Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia	ORPHA:1200
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617820
Orofaciodigital Syndrome Xv	Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe...	OMIM:617127
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short ...	ORPHA:3258
Cooper-Jabs Syndrome	Frontal bossing, Anteverted nares, Camptodactyly of finger, Congenital diaphragmatic hernia, Brac...	ORPHA:1488
Pfeiffer Syndrome	Mandibular prognathia, Cloverleaf skull, Depressed nasal bridge, Choanal atresia, Hypoplasia of t...	OMIM:101600
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent...	ORPHA:178303
Mulibrey Nanism	Dental crowding, Single transverse palmar crease, Absent frontal sinuses, Enamel hypoplasia, Hypo...	OMIM:253250
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness, Poor suck, Micrognathia	OMIM:300580
Hydrolethalus	Tracheal atresia, Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous cleft hard pala...	ORPHA:2189
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa...	ORPHA:2098
Smith-Magenis Syndrome	Mandibular prognathia, Frontal bossing, Anteverted nares, Depressed nasal bridge, Delayed eruptio...	ORPHA:819
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Dolicho...	OMIM:167730
Congenital Muscular Dystrophy, Fukuyama Type	Camptodactyly of finger, Flexion contracture, Brachycephaly, Plagiocephaly, Dolichocephaly	ORPHA:272
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Deep philtrum, Knee flexion contracture, Microdontia, Prominent crus of helix, Thin lower lip ver...	OMIM:619194
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Frontal bossing, Inguinal hernia, Prominent nose, Microcephaly, Brachycephaly, Wide nasal bridge,...	ORPHA:1292
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ...	OMIM:201000
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Flat occiput, Microcephaly, Brachycephaly, Lambdoidal craniosynostosis, Bicoronal synostosis	OMIM:618736
Osteoglosphonic Dysplasia	Abnormal clavicle morphology, Rhizomelia, Craniosynostosis, Micrognathia, Abnormal form of the ve...	ORPHA:2645
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Hallux valgus, Osteopenia, Micrognathia, Long hallux, Pectus carinatum, Feeding difficulties, Hig...	OMIM:620194
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal r...	OMIM:618917
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Micrognathia, Fl...	OMIM:130070
Autosomal Recessive Amelia	Micrognathia, Non-midline cleft lip, Orofacial cleft, Amelia involving the upper limbs, Amelia, A...	ORPHA:1027
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Frontal bossing, Micrognathia, Hypoplasia of the maxilla, Long nose, U...	OMIM:257850
Peho-Like Syndrome	Short nose, Retrognathia, Progressive microcephaly	OMIM:617507
Schilbach-Rott Syndrome	Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous syn...	OMIM:164220
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia...	OMIM:156400
Contractural Arachnodactyly, Congenital	Osteopenia, Micrognathia, Pectus carinatum, Knee flexion contracture, High palate, Wrist flexion ...	OMIM:121050
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, Microcephaly, Wide nasal bridge...	OMIM:300260
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Obesity, Malar flattening, Short...	OMIM:614613
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Feeding difficulti...	OMIM:613443
Pfeiffer Syndrome Type 3	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota...	ORPHA:93260
Arterial Tortuosity Syndrome	Respiratory distress, Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Arachno...	ORPHA:3342
Desanto-Shinawi Syndrome	Bulbous nose, Depressed nasal bridge, Brachycephaly, Midface retrusion	OMIM:616708
Lamb-Shaffer Syndrome	Micrognathia, Feeding difficulties, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, T...	ORPHA:530983
Carey-Fineman-Ziter Syndrome	Laryngeal stenosis, Aplasia/Hypoplasia of the tongue, Micrognathia, Aplasia of the pectoralis maj...	ORPHA:1358
Non-Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin	ORPHA:141179
17Q23.1Q23.2 Microdeletion Syndrome	Long toe, Pes planus, Sandal gap, Malar flattening, Long fingers, Dyspnea, Limitation of joint mo...	ORPHA:261279
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas	ORPHA:1203
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Abnormalit...	ORPHA:783
Mesomelic Dysplasia, Savarirayan Type	Delayed closure of the anterior fontanelle, Abnormal foot morphology, Abnormal thorax morphology,...	OMIM:605274
Fetal Valproate Spectrum Disorder	Omphalocele, Short nose, Depressed nasal ridge	ORPHA:1906
Cutis Laxa, Autosomal Recessive, Type Iia	Frontal bossing, Inguinal hernia, Anteverted nares, Lipodystrophy, Microcephaly, Carious teeth, M...	OMIM:219200
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Posta...	OMIM:615948
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Difficulty wal...	OMIM:617695
Distal Duplication 18Q	Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Carious teeth, Camptodac...	ORPHA:1716
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy	ORPHA:324588
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy...	ORPHA:85451
Say Syndrome	Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Cleft palate, Short distal phala...	OMIM:181180
6Q25 Microdeletion Syndrome	Camptodactyly of finger, Micrognathia, Microcephaly, Wide nasal bridge, Plagiocephaly, Malar flat...	ORPHA:251056
Chromosome 1P35 Deletion Syndrome	Thin upper lip vermilion, Micrognathia, Cough, Increased femoral anteversion, Feeding difficultie...	OMIM:617930
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Micrognathia, Short dist...	OMIM:620073
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms	OMIM:615541
Lowry-Maclean Syndrome	Short nasal bridge, Inguinal hernia, Choanal atresia, Delayed eruption of primary teeth, Microgna...	ORPHA:2409
Desminopathy	Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo...	ORPHA:98909
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Apnea, Episodic tachypnea, Hamartoma of tongue, Micrognathia, ...	ORPHA:2754
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Vertebral Hypersegmentation And Orofacial Anomalies	Pes planus, Scapular winging, Micrognathia, Pectus excavatum, Submucous cleft hard palate, Unilat...	OMIM:619122
Maternal Uniparental Disomy Of Chromosome X	Ambiguous genitalia, Azoospermia, Congestive heart failure, Gonadal tissue inappropriate for exte...	ORPHA:261519
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Missing ribs, Micrognathia, Abnormal rib morphology, Tracheoesophageal f...	ORPHA:1834
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Micrognathia, Multiple joint dislocation, Pectus carinatum, Knee dislocation, Shoulde...	OMIM:245600
Non-Distal Duplication 13Q	Microcephaly, Micrognathia, Hernia, Trigonocephaly, Short nose	ORPHA:1702
Edinburgh Malformation Syndrome	Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Short nose, Failure to thrive	ORPHA:1895
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Pes planus, Single transverse palmar crease, Joint hypermobility, Tapered ...	OMIM:617804
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Depressed nasal bridge, Microcephaly, Micrognathia, Brachycephaly, Retrognathia	OMIM:618142
Lig4 Syndrome	Small for gestational age, Microcephaly, Prominent nose, Brachycephaly, Wide nasal bridge, Failur...	OMIM:606593
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Craniosynostosis, Brachycephaly, Choanal stenosis, Trigonocephaly, Short nose, ...	ORPHA:1790
Al Kaissi Syndrome	Depressed nasal bridge, Broad nasal tip, Microcephaly, Decreased head circumference, Brachycephal...	OMIM:617694
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose	OMIM:125700
Infantile Systemic Hyalinosis	Osteopenia, Abnormal dental morphology, Camptodactyly of finger, Micromelia, Malabsorption, Osteo...	ORPHA:2176
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormal pel...	ORPHA:1133
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Underdeveloped nasal alae, Micrognathia, Microcephaly, Depressed nasal ridge, Wide nasal bridge, ...	ORPHA:77300
Frontofacionasal Dysplasia	Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Brachycephaly, D...	ORPHA:1791
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Frontal bossing, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Brachycepha...	ORPHA:228390
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Macrocephaly, Advanced eruption of teeth, S...	OMIM:614753
Prader-Willi Syndrome Due To Imprinting Mutation	Feeding difficulties in infancy, Narrow palm, Small hand, Short foot, Abnormal ulnar metaphysis m...	ORPHA:177910
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short nose, Microcephaly, Camptodactyly of finger, Micrognathia	ORPHA:1495
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge, Microcephaly	OMIM:200130
Cole-Carpenter Syndrome 2	Microretrognathia, Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kypho...	OMIM:616294
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Cryptorch...	OMIM:610198
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Micrognathia, Bilateral cleft lip and palate, Clinodactyly of the 5th fin...	ORPHA:2001
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:618234
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Cleft upper ...	OMIM:312150
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Failure to thrive, Broad nasal tip, Overweight, Recurrent upper respirator...	ORPHA:391372
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia...	OMIM:192445
Frontometaphyseal Dysplasia	Subglottic stenosis, Single transverse palmar crease, Limited elbow movement, Micrognathia, Metap...	ORPHA:1826
Schwartz-Jampel Syndrome	Apnea, Micromelia, Micrognathia, Feeding difficulties in infancy, Coxa vara, Pectus carinatum, Hi...	ORPHA:800
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Pectus carinat...	ORPHA:3079
8Q12 Microduplication Syndrome	Brachycephaly, Wide nasal bridge	ORPHA:228399
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Muenke Syndrome	Brachycephaly, Plagiocephaly, Macrocephaly, Malar flattening, Coronal craniosynostosis	ORPHA:53271
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Brachycephaly, Craniosynostosis	OMIM:614416
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla...	OMIM:615349
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hypoplastic ischia, Micrognathia, Pectus carinatum, Knee flexion contracture, Oligodontia, High p...	OMIM:210730
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Apnea, Micrognathia, Hypoplastic ilia, Patellar aplas...	ORPHA:85201
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Joint laxity, Pes planus, Hypoplasia of the femoral he...	OMIM:610797
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Ulnar bowing, Humeroradi...	OMIM:201750
Inverted Duplicated Chromosome 15 Syndrome	Frontal bossing, Microcephaly, Broad nasal tip, Brachycephaly, Hernia	ORPHA:3306
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate...	ORPHA:2753
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Pectus excavatum, Metaphyseal widening, Flexion contracture, Clubbing, Recu...	OMIM:617303
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Wide anterior fontanel, S...	OMIM:619339
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Flexion contracture, Talipes calcaneovalgus, Knee flex...	OMIM:265000
Cerebrocostomandibular Syndrome	Death in infancy, Neonatal respiratory distress, Tracheomalacia, Micrognathia, Kyphosis, Posterio...	ORPHA:1393
Hypomandibular Faciocranial Dysostosis	Micrognathia, Hypoplasia of the maxilla, Choanal stenosis, Malar flattening, Coronal craniosynost...	OMIM:241310
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Meta...	OMIM:182212
Zimmermann-Laband Syndrome	Hallux valgus, Pes planus, Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate...	ORPHA:3473
Orofaciodigital Syndrome Type 14	Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of t...	ORPHA:434179
Frontonasal Dysplasia 3	Brachycephaly, Wide nasal bridge, Underdeveloped nasal alae	OMIM:613456
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Depressed nasal bridge, Progressive microcephaly	ORPHA:438178
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, Microcephaly, Micrognathia	ORPHA:2598
Oculomaxillofacial Dysostosis	Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali...	ORPHA:1794
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo...	ORPHA:157215
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod...	OMIM:608670
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress, Limitation of joint mobility	ORPHA:2680
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Osteopenia, Joint laxity, Respiratory distress, Pyloric stenosis, Ga...	ORPHA:363705
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly, Macrocephaly	ORPHA:459074
8Q24.3 Microdeletion Syndrome	Branchial cyst, Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Single tran...	ORPHA:508488
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, High palate, Neonatal death, Microdontia, Long h...	OMIM:259775
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Meckel Syndrome, Type 8	Cleft upper lip, Abdominal distention, Cleft palate, Polydactyly, Narrow chest, Talipes equinovarus	OMIM:613885
Marshall Syndrome	Frontal bossing, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxill...	ORPHA:560
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Kyphosis, Recurrent pneumonia, 2-3 t...	OMIM:616449
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Malar flattening, Brachycephaly, Macrocephaly	OMIM:109120
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail...	ORPHA:75566
Becker Nevus Syndrome	Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi...	ORPHA:64755
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte...	OMIM:617201
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Frontal bossing, Short nose, Camptodactyly of finger, Micrognathia	ORPHA:2547
Gorlin Syndrome	Mandibular prognathia, Frontal bossing, Carious teeth, Brachycephaly, Wide nasal bridge, Abnormal...	ORPHA:377
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Osteopenia, Pes planus, Macrodontia, Thoracolumbar kyphoscoliosis, Proxima...	OMIM:212066
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom...	OMIM:255160
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint...	OMIM:603543
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Trismus, Abnormal foot morphology, Submucous cleft hard palate...	OMIM:609166
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in ...	ORPHA:177907
Enlarged Parietal Foramina	Craniosynostosis, Cleft lip, Cleft palate, Vomiting, Short clavicles, Broad thumb	ORPHA:60015
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomatic bone, Finger...	ORPHA:2215
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ...	ORPHA:464738
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Diastema, Pectus excavatum, Hypopl...	OMIM:300534
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft ...	OMIM:612863
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Inguinal hernia, Microcephaly, Large for gestational age, Brachycephaly, Plagiocepha...	ORPHA:261652
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Pectus carinatum, Downturned corners of mouth, Knee flexion contracture, Clinodactyly of the 5th ...	ORPHA:488642
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Apnea, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High pala...	OMIM:300373
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, G...	ORPHA:275864
Smith-Magenis Syndrome	Mandibular prognathia, Brachycephaly, Wide nasal bridge, Increased body weight, Malar flattening,...	OMIM:182290
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Dilated cardiomyopathy	ORPHA:206546
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Decreased body weight, Re...	OMIM:616462
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Tracheal stenosis, Pierre-Robin sequence, Clinodacty...	OMIM:620183
Shprintzen-Goldberg Syndrome	Osteopenia, Apnea, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of...	ORPHA:2462
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Obesity, Macrocephaly	ORPHA:397973
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi...	OMIM:618150
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Hyperlordosis, Long fingers, Respiratory insufficiency, High p...	ORPHA:169186
Brachycephaly, Trichomegaly, And Developmental Delay	Single transverse palmar crease, Supernumerary tooth, Submucous cleft hard palate, Thick lower li...	OMIM:617412
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig...	ORPHA:235
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Missing ribs, Micrognathia, Abnormal rib morphology, Orofacial cle...	ORPHA:3301
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Sclerotic scapulae, Broad clavicles, Malar flattening, 2-3 fin...	OMIM:269500
Craniolenticulosutural Dysplasia	Osteopenia, High palate, Narrow chest, Gastroesophageal reflux, Bifid uvula, Joint laxity, Wide a...	OMIM:607812
Baker-Gordon Syndrome	Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:618218
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Micrognathia, High, narrow palate, Supernumerary tooth, Small hand, Abnormal f...	ORPHA:1787
Marbach-Rustad Progeroid Syndrome	Femur fracture, Delayed eruption of primary teeth, Micrognathia, Poor appetite, Reduced bone mine...	OMIM:619322
Auriculocondylar Syndrome 1	Dental crowding, Apnea, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular co...	OMIM:602483
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Gracile Bone Dysplasia	Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, ...	OMIM:602361
Mandibulofacial Dysostosis-Microcephaly Syndrome	Micrognathia, Hypoplasia of the maxilla, Secondary microcephaly, Trigonocephaly, Malar flattening...	ORPHA:79113
Catel-Manzke Syndrome	Joint dislocation, Single transverse palmar crease, Micrognathia, Pectus carinatum, Glossoptosis,...	OMIM:616145
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Death in infancy, Thoracic scoliosis, Respiratory distress, Gastrostomy tu...	OMIM:620278
Carey-Fineman-Ziter Syndrome 1	Tapered finger, Micrognathia, Trismus, Pierre-Robin sequence, Flexion contracture, Bowel irritabi...	OMIM:254940
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose	OMIM:137550
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Wormian bones, Dental crowding, Micrognathia, Flexion contracture, Hypo...	OMIM:608612
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose, Midface retrusion	OMIM:618618
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Aorto-Ventricular Tunnel	Congestive heart failure, Heart murmur	ORPHA:3400
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee...	OMIM:151050
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Patellar hypoplasia, High palate, Vomiting, Microdontia, Short pha...	ORPHA:221016
Acrootoocular Syndrome	Decreased palmar creases, Abnormal finger flexion crease, Micrognathia, High, narrow palate, Anod...	ORPHA:2980
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin	ORPHA:141184
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle...	ORPHA:246
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placemen...	ORPHA:435638
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Oste...	ORPHA:828
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Micrognathia, Short nose, Midface retrusion	OMIM:614744
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Prominent nasal bridge, Camptodactyly of finger, Underdeveloped nasal alae, Micrognathia, Microce...	ORPHA:2083
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Feeding difficulties, Bifid uvula, Absent thumb	OMIM:619239
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Inappropriate behavior, Gait disturbance, Disinhibition, Abnor...	OMIM:600795
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Wide nose, Microcephaly, Hypoplasia of the maxilla, Recurrent upper respirato...	ORPHA:2399
Seckel Syndrome 2	Clinodactyly of the 5th finger, Microdontia, Microglossia, Micrognathia	OMIM:606744
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Thick lower lip ...	OMIM:613804
Frank-Ter Haar Syndrome	Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, High palate, Short palm, Shor...	OMIM:249420
Fryns-Smeets-Thiry Syndrome	Arachnodactyly, Micrognathia, Thick lower lip vermilion, Patellar aplasia, Hip dislocation, Wide ...	ORPHA:2058
Harrod Syndrome	Arachnodactyly, Kyphosis, Dental malocclusion, Abnormal shoulder morphology, Joint hyperflexibili...	ORPHA:2115
Nail-Patella Syndrome	Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, R...	ORPHA:2614
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac...	ORPHA:536471
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Gastroesoph...	OMIM:616580
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Drumstick terminal phalanges, Thin ve...	OMIM:612938
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p...	OMIM:250220
Congenital Muscular Dystrophy Due To Lmna Mutation	Congestive heart failure, Arrhythmia	ORPHA:157973
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Abnormal dental enamel morphology, Tars...	ORPHA:85199
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Rocker bottom foot, Micrognathia, Flexion contracture, Wide mouth, Death in childhood, Camptodact...	OMIM:604273
Peroxisome Biogenesis Disorder 2A (Zellweger)	Apnea, Single transverse palmar crease, Micrognathia, Metatarsus adductus, Cleft palate, Death in...	OMIM:214110
Vulto-Van Silfhout-De Vries Syndrome	Mandibular prognathia, Frontal bossing, Brachycephaly	OMIM:615828
Ehlers-Danlos Syndrome, Classic-Like, 2	Hallux valgus, Osteopenia, Thoracic scoliosis, Pes planus, Micrognathia, Osteoarthritis, Squared ...	OMIM:618000
Buratti-Harel Syndrome	Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent pneumonia, Hig...	OMIM:619314
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Natal tooth, Overlapping toe, Craniosynostosis, Feeding difficulties in inf...	OMIM:123790
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Micrognathia, Unilateral radial aplasia, Feeding difficulties in infancy, Aplasi...	ORPHA:476126
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hyp...	ORPHA:2519
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Osteopenia, Subglottic stenosis, Metaphyseal widening, Coxa vara, Thoracic...	OMIM:271510
Occipital Horn Syndrome	Persistent open anterior fontanelle, Pectus carinatum, High palate, Narrow chest, Broad ribs, Joi...	OMIM:304150
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Nasogastric tube feedin...	ORPHA:254864
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Hypoplasia of the maxilla, Anteverted nares, Biparietal narrowing	ORPHA:228396
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Frontal bossing, Depressed nasal bridge, Bulbous nose, Brachycephaly, Plagiocephaly	OMIM:616789
14Q11.2 Microdeletion Syndrome	Short nose, Depressed nasal bridge, Micrognathia	ORPHA:261120
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Preaxial ha...	OMIM:263520
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Conical tooth, Cleft upper lip, S...	OMIM:263750
Congenital Myopathy 8	Congestive heart failure	OMIM:618654
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing, Platyspondyly, Scol...	OMIM:126550
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Death in infancy, Everted lower lip vermilion, Short finger	OMIM:242500
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Gastroesophageal re...	OMIM:134780
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Anteverted nares, Persistence of primary teeth, Microcephaly,...	OMIM:610253
Developmental And Epileptic Encephalopathy 80	Death in infancy, Tented upper lip vermilion, Tapered finger, Protruding tongue, Micrognathia, Fe...	OMIM:618580
Doors Syndrome	Respiratory distress, Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Downturn...	ORPHA:79500
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, C...	ORPHA:2769
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:253290
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Flat occiput, Anteverted nares, Femoral hernia, Microcephaly, Brachycephaly, Obe...	ORPHA:96147
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia, Abnormality of the dentition	OMIM:193100
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Generalized joint laxity, Gastroesophage...	OMIM:600373
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Feeding difficulties in infancy, Deep philt...	ORPHA:534
20Q11.2 Microduplication Syndrome	Inguinal hernia, Depressed nasal bridge, Anteverted nares, Trigonocephaly, Microcephaly, Wide nas...	ORPHA:363659
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact...	OMIM:174300
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Cleft soft palate, Deep palmar crease, Short philtrum, Retrognathia, Smooth philtrum, Adducted thumb	ORPHA:293725
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Absent Achilles refle...	OMIM:620011
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Brachycephaly, Choanal stenosis, Short...	OMIM:619859
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy	ORPHA:91130
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Microcephaly, Bulbous nose, Brachycephaly, Plagiocephaly, Retrognathia, Mi...	OMIM:618644
Mucopolysaccharidosis, Type X	Spatulate ribs, Broad clavicles, Diastema, Open bite, Hyperlordosis, Genu valgum, Hip dysplasia, ...	OMIM:619698
Rhizomelic Limb Shortening With Dysmorphic Features	Micrognathia, Obesity, Wide nasal bridge, Plagiocephaly, Macrocephaly	OMIM:618821
Humeroradial Synostosis	Brachycephaly, Wide nasal bridge	OMIM:236400
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Multiple impacted teeth,...	OMIM:113300
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Monosomy 18P	Microcephaly, Carious teeth, Micrognathia, Brachycephaly, Wide nasal bridge	ORPHA:1598
Myopathy, Myofibrillar, 7	Tongue atrophy, Multiple joint contractures, Limited hip extension, Shoulder flexion contracture,...	OMIM:617114
Synaptic Congenital Myasthenic Syndromes	Mandibular prognathia, Abnormality of the knee, Scapular winging, Respiratory distress, Hypoventi...	ORPHA:98915
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi...	OMIM:210710
Marden-Walker Syndrome	Arachnodactyly, Micrognathia, High, narrow palate, Narrow mouth, Pyloric stenosis, Wide anterior ...	OMIM:248700
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Short femur, Dental crowding, Ta...	OMIM:300990
Larsen Syndrome	Finger syndactyly, Craniosynostosis, Large joint dislocations, Accessory carpal bones, Cleft pala...	ORPHA:503
Keipert Syndrome	Hypoplasia of the maxilla, Depressed nasal bridge, Prominent nasal bridge, Macrocephaly	ORPHA:2662
Stevenson-Carey Syndrome	Anteverted nares, Underdeveloped nasal alae, Brachycephaly, Camptodactyly, Prominent nasal tip, J...	OMIM:611961
Hemochromatosis, Type 1	Hypogonadotropic hypogonadism, Congestive heart failure, Telangiectasia, Azoospermia, Cardiomyopa...	OMIM:235200
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
Macrocephaly/Autism Syndrome	Frontal bossing, Depressed nasal bridge, Large for gestational age, Obesity, Biparietal narrowing...	OMIM:605309
Esophageal Atresia	Respiratory distress, Subglottic stenosis, Feeding difficulties in infancy, Gastrointestinal dysm...	ORPHA:1199
Amish Lethal Microcephaly	Death in infancy, Cleft soft palate, Micrognathia, Limitation of joint mobility, Osteoporosis, De...	ORPHA:99742
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Upper limb amyotrophy, K...	ORPHA:496689
Gorlin-Chaudhry-Moss Syndrome	Hypoplasia of the maxilla, Brachycephaly, Coronal craniosynostosis, Umbilical hernia, Aplasia/Hyp...	ORPHA:2095
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Tricuspid regurgitation	OMIM:314400
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Rectal atr...	OMIM:613390
Hallermann-Streiff Syndrome	Natal tooth, Recurrent fractures, Tracheomalacia, Abnormality of the dentition, Micrognathia, Hig...	ORPHA:2108
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami	OMIM:141300
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly	OMIM:619972
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate laughter, Thick...	OMIM:614104
Baraitser-Winter Syndrome 1	Failure to thrive, Anteverted nares, Microcephaly, Wide nasal bridge, Trigonocephaly, Short nose,...	OMIM:243310
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia	OMIM:601809
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Micrognathia, Lo...	OMIM:617746
Caudal Regression Syndrome	Bowel incontinence, Missing ribs, Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypopl...	ORPHA:3027
Lig4 Syndrome	Micrognathia, Microcephaly, Brachycephaly, Wide nasal bridge, Biparietal narrowing, Convex nasal ...	ORPHA:99812
Laurence-Moon Syndrome	Brachycephaly, Obesity	ORPHA:2377
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Single transverse palmar crease, Kyphoscoliosis, Micrognathia, Pec...	OMIM:618348
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti...	ORPHA:666
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Mosaic Trisomy 8	Camptodactyly of finger, Micrognathia, Patellar aplasia, Abnormal rib morphology, Limitation of j...	ORPHA:96061
Chromosome 3Q13.31 Deletion Syndrome	Plagiocephaly, Brachycephaly, Dolichocephaly	OMIM:615433
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, Respiratory distress, Micrognathia, Deep philtrum, Dental m...	ORPHA:329178
Hurler Syndrome	Hypoplasia of the femoral head, Coxa valga, Joint stiffness, Hypoplasia of the odontoid process, ...	OMIM:607014
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, ...	ORPHA:352665
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Short nose, Cachexia	ORPHA:1389
Cardioacrofacial Dysplasia 1	Hypoplasia of the maxilla, Overhanging nasal tip, Midface retrusion	OMIM:619142
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d...	ORPHA:2907
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Anteverted nares, Microcephaly, Achilles tendon contracture, ...	OMIM:301041
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Micrognathia, Feeding difficulties, Thin vermilion border, Short philtrum	ORPHA:261304
C Syndrome	Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Accessory oral ...	OMIM:211750
Charcot-Marie-Tooth Disease, Type 4C	Tongue atrophy, Hammertoe, Talipes equinovarus, Tongue fasciculations, Scoliosis, Pes cavus	OMIM:601596
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Frontal bossing, Depressed nasal bridge, Anteverted nares, Concave nasal ridge, Malar flattening,...	OMIM:613038
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Congestive heart failure, ...	ORPHA:3092
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Feeding difficulties in infancy, Respiratory insuffi...	OMIM:605809
Rubinstein-Taybi Syndrome 1	Respiratory distress, Plantar crease between first and second toes, Dental crowding, Single trans...	OMIM:180849
Cronkhite-Canada Syndrome	Intestinal polyposis, Anorexia, Tapered finger, Malabsorption, Abdominal pain, Diarrhea, Hypogeus...	ORPHA:2930
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal...	OMIM:300963
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Gait ataxia, Impaired tactile sensation, Large fleshy ears, Low-set ears, Overfolded heli...	OMIM:619092
Acrofacial Dysostosis 1, Nager Type	Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foo...	OMIM:154400
Restrictive Dermopathy 1	Natal tooth, Limb joint contracture, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Thin clavi...	OMIM:275210
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Cranioectodermal Dysplasia 1	Single transverse palmar crease, High, narrow palate, High palate, Widely spaced teeth, Narrow ch...	OMIM:218330
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Narrow mouth, Mandibu...	OMIM:202650
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Bradycardia	OMIM:619048
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Mogs-Cdg	Respiratory distress, Hypoventilation, Thoracic scoliosis, Apnea, Chronic constipation, High pala...	ORPHA:79330
Toluene Embryopathy	Microcephaly, Micrognathia, Hypoplasia of the zygomatic bone, Biparietal narrowing, Short nose	ORPHA:1920
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Joint stiffne...	ORPHA:1300
Warburg Micro Syndrome 3	Microcephaly, Micrognathia, Flexion contracture, Brachycephaly, Secondary microcephaly, Short nose	OMIM:614222
Smith-Kingsmore Syndrome	Frontal bossing, Depressed nasal bridge, Large for gestational age, Macrocephaly, Umbilical herni...	OMIM:616638
Diffuse Cutaneous Systemic Sclerosis	Nausea and vomiting, Malabsorption, Carious teeth, Dyspnea, Flexion contracture, Xerostomia, Oste...	ORPHA:220393
Desmosterolosis	Increased bone mineral density, Intestinal malrotation, Micromelia, Micrognathia, Metatarsus addu...	ORPHA:35107
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Median cleft lip, Talipes, Absent thumb, Aplasia/Hypoplasia of...	ORPHA:1234
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ...	ORPHA:1071
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Microgna...	OMIM:619879
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ...	OMIM:602080
Orofaciodigital Syndrome Ix	Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa...	OMIM:258865
Kagami-Ogata Syndrome	Long clavicles, Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers, Hypoplasia of the maxilla...	OMIM:608149
Teebi Hypertelorism Syndrome 1	Omphalocele, Natal tooth, Frontal bossing, Depressed nasal bridge, Anteverted nares, Sagittal cra...	OMIM:145420
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Micrognathia, 2-3 toe syndactyly, Cleft palate, Small thenar eminence, Short 5th...	OMIM:239800
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Frontal bossing, Thick nasal alae, Micrognathia, Short nose, Retrognathia	ORPHA:163961
Pfeiffer Syndrome Type 1	Depressed nasal bridge, Brachycephaly, Short nose, Midface retrusion, Bicoronal synostosis	ORPHA:93258
Frontofacionasal Dysplasia	Frontal cutaneous lipoma, Underdeveloped nasal alae, Brachycephaly, Bifid nose, Midline defect of...	OMIM:229400
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t...	OMIM:620045
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal reproductive system morphology, Congestive heart failure, Hypertrophic cardiomyopathy	ORPHA:70472
Christianson Syndrome	Death in early adulthood, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Macroti...	ORPHA:85278
Diamond-Blackfan Anemia 6	Cleft upper lip, Micrognathia, Short thumb, Cleft palate, Triphalangeal thumb, Tracheomalacia, Re...	OMIM:612561
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest...	ORPHA:439
Miller-Dieker Syndrome	Omphalocele, Short nose, Anteverted nares	ORPHA:531
Rothmund-Thomson Syndrome	Osteopenia, Selective tooth agenesis, Nasogastric tube feeding in infancy, Reduced bone mineral d...	ORPHA:2909
Marden-Walker Syndrome	Arachnodactyly, Camptodactyly of finger, Talipes, Micrognathia, Metatarsus adductus, Pyloric sten...	ORPHA:2461
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Seckel Syndrome	Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia, Cone-shaped epiphy...	ORPHA:808
Trisomy 9P	Abnormal nasal morphology, Microcephaly, Brachycephaly, Impacted tooth	ORPHA:236
Distal Duplication 17Q	Hallux valgus, Thin upper lip vermilion, Joint laxity, Rhizomelia, Overlapping toe, Arachnodactyl...	ORPHA:3379
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Short nose, Depressed nasal bridge, Craniosynostosis, Macrocephaly	OMIM:614732
Autosomal Recessive Multiple Pterygium Syndrome	Multiple pterygia, Micrognathia, Orofacial cleft, Symphalangism affecting the phalanges of the ha...	ORPHA:2990
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Frontal bossing, Turricephaly, Microcephaly, Wide nasal...	OMIM:613603
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Flat occiput, Depressed nasal bridge...	OMIM:614188
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Depressed nasal bridge, Wide nasal bridge, Midface retrusion	ORPHA:782
Spondylocostal Dysostosis 1, Autosomal Recessive	Death in infancy, Vertebral fusion, Block vertebrae, Kyphoscoliosis, Abdominal distention, Rib fu...	OMIM:277300
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Downturned corners...	ORPHA:453499
Cleft Velum	Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici...	ORPHA:99772
Tetrasomy 12P	Delayed eruption of teeth, Frontal bossing, Anteverted nares, Cachexia, Short nose	ORPHA:884
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Wormian bones, Dental crowding, Down-sloping shoulders, Coxa valga, Micrognathia, Joi...	OMIM:248370
Tetraploidy	Radial club hand, Short philtrum, Cleft palate, Micrognathia	ORPHA:3305
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paroxysmal atrial tachycardia, Congestive heart failure, Cardiac arrest	ORPHA:49827
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Coxa valga, Thoracolumbar kyphosis, Joint stiffness, Gingival overgrowth, Dysp...	OMIM:230600
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Hamamy Syndrome	Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Tape...	OMIM:611174
Warburg Micro Syndrome 2	Prominent nasal bridge, Microcephaly, Flexion contracture, Brachycephaly, Secondary microcephaly,...	OMIM:614225
Foxg1 Syndrome	Inability to walk, Choreoathetosis, Difficulty walking, Bruxism, Abnormal repetitive mannerisms, ...	ORPHA:561854
Fetal Alcohol Syndrome	Anteverted nares, Congenital diaphragmatic hernia, Micrognathia, Microcephaly, Biparietal narrowi...	ORPHA:1915
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi...	ORPHA:93317
46,Xy Ovotesticular Difference Of Sex Development	Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ...	ORPHA:325345
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Microcephaly, Anosmia, Short nose, Short nasal septum	OMIM:302950
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, Pectus carinatum,...	OMIM:619472
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Hemivertebrae, Coxa va...	ORPHA:3107
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Arachnodactyly, Micrognathia, Malar prominence, Cone-shaped epiphysis, Joint hyperflexibility, Pa...	ORPHA:2824
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	ORPHA:314585
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Frontal bossing, Prominent nose, Micrognathia, Microcephaly, Bulbous nose,...	OMIM:156200
Familial Visceral Myopathy	Aganglionic megacolon, Arachnodactyly, Camptodactyly of finger, Micrognathia, Joint stiffness, Ab...	ORPHA:2604
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S...	OMIM:615503
Hydrolethalus Syndrome 2	Micrognathia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Preaxial foot...	OMIM:614120
Rothmund-Thomson Syndrome Type 1	Osteopenia, Patellar hypoplasia, Vomiting, Microdontia, Short phalanx of finger, Genu varum, Shor...	ORPHA:221008
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty...	ORPHA:97360
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Congestive heart failure, Arrhythmia	ORPHA:85446
Cardiomyopathy, Familial Hypertrophic, 4	Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl...	OMIM:115197
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Frontal bossing, Prominent nasal bridge, Micrognathia, Hypoplasia of the max...	OMIM:309520
Arboleda-Tham Syndrome	Mandibular prognathia, Respiratory distress, Downturned corners of mouth, Long thorax, Short phil...	OMIM:616268
Cog1-Cdg	Osteopenia, Thin upper lip vermilion, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosi...	ORPHA:263508
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Spontaneous neonatal pneumothorax, Frontal open bite, Micrognathia, Del...	OMIM:225410
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Pectus carinatum, Femoral bowing, Inc...	OMIM:609220
Angelman Syndrome	Mandibular prognathia, Flat occiput, Hypoplasia of the maxilla, Brachycephaly, Obesity, Secondary...	OMIM:105830
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, Pulmonic sten...	ORPHA:2414
Diamond-Blackfan Anemia 21	Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, S...	OMIM:620072
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Plagiocephaly, Brachycephaly, Microcephaly	OMIM:618862
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Arachnodactyl...	ORPHA:261330
Cutis Laxa, Autosomal Recessive, Type Iiia	Frontal bossing, Inguinal hernia, Narrow nasal ridge, Brachycephaly, Umbilical hernia, Failure to...	OMIM:219150
Loeys-Dietz Syndrome 6	Pes planus, Arachnodactyly, Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Inte...	OMIM:619656
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	ORPHA:1349
Frontorhiny	Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sin...	ORPHA:391474
Farber Disease	Respiratory distress, Abnormality of the knee, Abnormality of the hand, Abnormal foot morphology,...	ORPHA:333
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Right ventricular f...	ORPHA:99095
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Joint laxity, Ar...	ORPHA:284984
Peroxisome Biogenesis Disorder 1A (Zellweger)	Single transverse palmar crease, Micrognathia, High, narrow palate, High palate, Death in childho...	OMIM:214100
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Femoral bowing, Increased suscept...	OMIM:166200
Hypoglossia-Hypodactylia	Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia	OMIM:103300
Facioscapulohumeral Muscular Dystrophy 1	Scapular winging, Tongue atrophy, Calf muscle hypertrophy, Restrictive ventilatory defect, Should...	OMIM:158900
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Harel-Yoon Syndrome	Mandibular prognathia, Frontal bossing, Short nose, Micrognathia	OMIM:617183
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Micrognathia, Cleft lip, Kyphosis, Dental malocclusion, Gingival overgrowth, Cleft pa...	OMIM:616894
Cerebrofaciothoracic Dysplasia	Wide nose, Brachycephaly, Hernia, Macrocephaly, Short nose, Midface retrusion	ORPHA:1394
Adnp Syndrome	Respiratory distress, Single transverse palmar crease, Oral-pharyngeal dysphagia, Abnormal finger...	ORPHA:404448
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Convex nasal ridge	OMIM:156510
2Q23.1 Microdeletion Syndrome	Malar flattening, Brachycephaly, Microcephaly	ORPHA:228402
Uruguay Faciocardiomusculoskeletal Syndrome	Wide nose, Prominent nose, Joint contracture of the hand, Brachyturricephaly, Camptodactyly, Camp...	OMIM:300280
Arthrogryposis Multiplex Congenita 5	Micrognathia, Flexion contracture, Death in infancy, Neonatal respiratory distress, Restrictive v...	OMIM:618947
Dislocation Of The Hip-Dysmorphism Syndrome	Prominence of the premaxilla, Inguinal hernia, Anteverted nares, Depressed nasal ridge, Wide nasa...	ORPHA:2412
Mgat2-Cdg	Osteopenia, Respiratory distress, Dental crowding, Gastroparesis, Gastrostomy tube feeding in inf...	ORPHA:79329
Microcephaly-Capillary Malformation Syndrome	Wide nose, Small for gestational age, Hypoplasia of the maxilla, Short nose, Failure to thrive, P...	OMIM:614261
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Feeding difficulties in infanc...	OMIM:115150
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi...	OMIM:619950
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Knee dislocat...	ORPHA:536532
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Joint hypermobility, Hiatus hernia, Micrognathia, S...	OMIM:300895
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Wide nose, Anteverted nares, Dorsocervical fat pad, Small for gestational age, Micrognathia, Micr...	ORPHA:391408
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Microcephaly, Micrognathia, Flexion contracture, Secondary microcephaly, Short nose, F...	OMIM:615851
Geleophysic Dysplasia 3	Subglottic stenosis, Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Limited wrist movem...	OMIM:617809
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna...	OMIM:165590
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Malar flattening, Brachycephaly, Microcephaly	OMIM:268850
Congenital Disorder Of Glycosylation, Type Iq	Failure to thrive, Depressed nasal bridge, Brachycephaly	OMIM:612379
Loeys-Dietz Syndrome 4	Joint laxity, Pes planus, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the e...	OMIM:614816
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Frontal bossing, Micrognathia, Wide nasal bridge, Obesity, Hypoplasia of teeth, Macrocephaly, Sho...	OMIM:620250
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Broad nasal tip, Brachycephaly, Dimple on nasal tip, Midface retrusion	ORPHA:1784
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Tented upper lip vermilion, Edema of the dorsum of feet,...	ORPHA:521426
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Small for gestational age, Short nose, Secondary microcephaly, Primary microcephaly	ORPHA:289266
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers...	OMIM:309583
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Feeding difficulties in infancy, Respiratory insufficiency due to muscle we...	ORPHA:254875
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, Cleft palate...	ORPHA:2257
Chromosome 2P16.1-P15 Deletion Syndrome	Depressed nasal bridge, Microcephaly, Recurrent upper respiratory tract infections, Wide nasal br...	OMIM:612513
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Slender build, Brachycephaly, Macrocephaly, Macrodontia of permanent maxil...	ORPHA:364028
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Death in infancy, Micrognathia, Abdominal distention, Postaxial hand po...	OMIM:235255
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Small for gestational age, Choanal atresia, Trigonocephaly, Micrognath...	OMIM:619148
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Camptodactyly	OMIM:246560
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Congestive heart f...	ORPHA:2326
Pallister-Hall Syndrome	Hemivertebrae, Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Syndactyly, Me...	OMIM:146510
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Apnea, Micrognathia, Proximal femoral metaphyseal irregularity, Tachypnea, Early ossification of ...	ORPHA:397715
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Abnormal repetitive mannerisms, Difficulty walking	OMIM:617393
Warburg Micro Syndrome 4	Anteverted nares, Prominent nasal bridge, Flexion contracture, Brachycephaly, Secondary microcephaly	OMIM:615663
Atrial Septal Defect, Ostium Primum Type	Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s...	ORPHA:99106
Desmosterolosis	Relative macrocephaly, Frontal bossing, Hypoplastic nasal bridge, Failure to thrive, Anteverted n...	OMIM:602398
Nephrotic Syndrome, Type 11	Arachnodactyly, Micrognathia, Cleft lip, Partial duplication of thumb phalanx, Cleft palate, High...	OMIM:616730
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Clubbing, Hamartomatous polyposis,...	OMIM:175500
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Respiratory distress, Tongue atrophy, Respiratory failure requiring assisted...	OMIM:211530
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, H...	OMIM:234100
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Prominent nasal bridge, Micrognathia, Bulbous nose, Decreased head circumf...	ORPHA:247262
Chromosome 6Pter-P24 Deletion Syndrome	Frontal bossing, Depressed nasal bridge, Brachycephaly, Umbilical hernia, Macrocephaly, Malar fla...	OMIM:612582
Meier-Gorlin Syndrome 6	Microretrognathia, Frontal bossing, Anteverted nares, Depressed nasal bridge, Small for gestation...	OMIM:616835
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micrognathia, Cleft palate, High palate, P...	OMIM:616038
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Ritscher-Schinzel Syndrome 1	Prominent occiput, Depressed nasal bridge, Brachycephaly, Micrognathia	OMIM:220210
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphol...	ORPHA:96263
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy	OMIM:606703
Frontometaphyseal Dysplasia 2	Subglottic stenosis, Congenital hip dislocation, Elbow contracture, Feeding difficulties in infan...	OMIM:617137
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Aica-Ribosuria Due To Atic Deficiency	Frontal bossing, Brachycephaly, Anteverted nares, Prominent nasal bridge	OMIM:608688
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Abdominal distention, Diarrhea, Protein-losing enteropathy, Talipes equinovarus...	OMIM:608104
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Prominent nose, Microcephaly, Scaphocephaly, Cranial asymmetry, Wid...	OMIM:614886
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Inguinal hernia, Failure to thrive, Anteverted nares, Microg...	OMIM:613026
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia,...	ORPHA:1652
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of cani...	ORPHA:364577
Naxos Disease	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:601214
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Depressed nasal bridge, Anteverted nares, Large for gestational age, Brachycephaly, Lambdoidal cr...	OMIM:615398
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Small...	OMIM:101800
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Microcephaly, Micrognathia, Delayed eruption of permanent teeth, Short nose	OMIM:619356
Meier-Gorlin Syndrome 2	Joint hypermobility, Micrognathia, Patellar aplasia, Feeding difficulties, Slender long bone, Cam...	OMIM:613800
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Respiratory distress, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra...	OMIM:612852
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Frontal bossing, Hip contracture, Anteverted nares, Prominent nasal bridge, Cachexia, Micrognathi...	ORPHA:371364
Lopes-Maciel-Rodan Syndrome	Unsteady gait, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms	OMIM:617435
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro...	OMIM:614008
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart...	ORPHA:275766
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:94080
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal thorax morphology, Abnormal respiratory system physiology...	ORPHA:50251
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Thoracolumbar scoliosis, Micrognathia, 2-3 fin...	ORPHA:2437
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Hip contracture, Inguinal hernia, Flexion contracture of finger, Failure t...	OMIM:193700
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy...	OMIM:150250
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia...	ORPHA:1855
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Brachycephaly, Macrocephaly, Dolichocephaly, Malar flat...	ORPHA:357001
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc...	OMIM:301040
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia	OMIM:112310
Neu-Laxova Syndrome	Osteopenia, Abnormality of the philtrum, Osteomalacia, Micromelia, Micrognathia, Trismus, Submuco...	ORPHA:2671
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Kyphoscoliosis, Protruding tongue, Abnormal thumb morphology, Contractures...	ORPHA:324410
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Micrognathia, Microcephaly, Plagiocephaly, Distal arthrogryposis, Short n...	OMIM:619833
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop...	ORPHA:330001
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Wide anterior fontanel, S...	ORPHA:457279
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L...	OMIM:615866
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Feeding diff...	ORPHA:596
Sialuria	Thin upper lip vermilion, Thoracic hypoplasia, 2-3 toe syndactyly, Macroglossia, High palate, Pro...	OMIM:269921
19P13.12 Microdeletion Syndrome	Narrow nasal bridge, Anteverted nares, Craniosynostosis, Microcephaly, Brachycephaly, Obesity, Ar...	ORPHA:254346
Faciocardiomelic Syndrome	Osteopenia, Micrognathia, Cuboid-shaped vertebral bodies, Dental malocclusion, Wide mouth, Slende...	OMIM:612731
Schimke Immuno-Osseous Dysplasia	Wide capital femoral epiphyses, Lumbar hyperlordosis, Ovoid vertebral bodies, Abnormal femoral he...	ORPHA:1830
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture, Kyphoscoliosis	OMIM:617977
Adenylosuccinase Deficiency	Short nose, Anteverted nares, Brachycephaly, Microcephaly	OMIM:103050
Acrofrontofacionasal Dysostosis 2	Wide nose, Brachycephaly, Microcephaly	OMIM:239710
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis	OMIM:608189
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia...	ORPHA:40366
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy, Feeding difficulties, Gastroesophageal reflux, Decreased ...	OMIM:616974
Fraser Syndrome 1	Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Laryng...	OMIM:219000
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Depressed nasal bridge, Anteverted nares, Micrognathia, Abnormal nasal morphology, Wide nasal bri...	ORPHA:404440
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Cleft upper lip, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossifi...	ORPHA:93271
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ...	ORPHA:57777
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod...	OMIM:609638
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Microcephaly	ORPHA:833
Verheij Syndrome	Anteverted nares, Small for gestational age, Broad nasal tip, Microcephaly, Wide nasal bridge, Sh...	OMIM:615583
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Large for gestational age, Macrocephaly, Cranial asymmetry, Broad nasal tip	ORPHA:137634
Danon Disease	Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac...	OMIM:300257
Gaucher Disease Type 2	Respiratory distress, Flexion contracture, Dysphagia, Cough, Abnormal pattern of respiration	ORPHA:77260
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose	OMIM:122880
Congenital Fiber-Type Disproportion Myopathy	Congenital hip dislocation, Dental crowding, Poor appetite, Micrognathia, Nasogastric tube feedin...	ORPHA:2020
Donnai-Barrow Syndrome	Omphalocele, Depressed nasal bridge, Congenital diaphragmatic hernia, Macrocephaly, Umbilical her...	ORPHA:2143
Dermotrichic Syndrome	Frontal bossing, Short nose, Depressed nasal bridge	ORPHA:99688
Cohen Syndrome	Small for gestational age, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Micro...	OMIM:216550
Intellectual Disability-Strabismus Syndrome	Failure to thrive, Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Micrognathia, Cong...	ORPHA:363528
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Dental crowding, Poor appetite, Micrognathia, Feeding difficulties in infancy, High, narrow palat...	ORPHA:96182
14Q24.1Q24.3 Microdeletion Syndrome	Short nose, Prominent nasal bridge, Wide nasal bridge, Midface retrusion	ORPHA:401935
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry...	ORPHA:86822
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Short nose	ORPHA:90653
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Frontal bossing, Short nose, Depressed nasal ridge, Macrocephaly	OMIM:300863
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hypospadias, Cryptorchidism, Congestive heart failure, Arrhythmia, Hypertrophic cardiomyopathy	ORPHA:1194
Shukla-Vernon Syndrome	Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn...	OMIM:301029
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Kagami-Ogata Syndrome	Pursed lips, Respiratory failure requiring assisted ventilation, Thoracic hypoplasia, Kyphoscolio...	ORPHA:254519
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Short nose, Depressed nasal bridge, Microcephaly	OMIM:616910
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Cloverleaf skull, Depressed na...	ORPHA:87
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
9P13 Microdeletion Syndrome	Microretrognathia, Anteverted nares, Brachycephaly, Wide nasal bridge, Umbilical hernia	ORPHA:324313
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Scoliosis	OMIM:615066
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Paget Disease Of Bone 5, Juvenile-Onset	Barrel-shaped chest, Short humerus, Bowing of the long bones, Osteopenia, Increased bone mineral ...	OMIM:239000
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Bulbous nose, Secondary microcephaly, Malar flattening, Short nose, Failure to ...	OMIM:616420
Baller-Gerold Syndrome	Narrow nasal bridge, Frontal bossing, Failure to thrive in infancy, Prominent nasal bridge, Micro...	ORPHA:1225
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Pectus excavatum, Bilateral cleft lip and palate, High palate, Malar fl...	OMIM:618874
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Feeding difficulties in infancy, Talipes calcaneovalgu...	ORPHA:818
Cdags Syndrome	Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Brachycephaly, Lambdoidal craniosy...	OMIM:603116
Craniosynostosis 4	Depressed nasal bridge, Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Ma...	OMIM:600775
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Long clavicles, Overlapping toe, Arachnodactyly, Single transverse palmar c...	ORPHA:83617
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Micromelia, Abnormality of the dentit...	ORPHA:289
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Respiratory distress, Congenital hip dislocation, Abnormal periodontium morphology, H...	ORPHA:480880
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Depressed nasal bridge, Abnormal den...	ORPHA:96264
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Familial Atrial Myxoma	Congestive heart failure, Tricuspid regurgitation, Heart murmur	ORPHA:615
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Frontal bossing, Depressed nasal bridge, Anteverted nares, Microcephaly, Bulbous nose, Short nose	OMIM:614105
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:619690
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Downturned corners of mouth, High palate, Widely spaced teeth, Narrow chest, Gas...	OMIM:618268
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Weill-Marchesani Syndrome 2	Short metacarpal, Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Hypoplasia of the maxi...	OMIM:608328
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Broad nasal tip, Microcephaly, Wide nasal bridge, Plagiocephaly, Left unicoronal synostosis, Shor...	OMIM:614749
Peho Syndrome	Anteverted nares, Microcephaly, Flexion contracture, Biparietal narrowing, Malar flattening, Shor...	ORPHA:2836
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Microcephaly, Brachycephaly, ...	ORPHA:261494
Arthrogryposis Multiplex Congenita 6	Death in infancy, Death in childhood, Neonatal death, Arthrogryposis multiplex congenita, Adducte...	OMIM:619334
Aica-Ribosiduria	Brachycephaly	ORPHA:250977
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Micrognathia, Cleft palate, Feeding difficulties, Bifid uvula	OMIM:606164
White-Sutton Syndrome	Mandibular prognathia, Depressed nasal bridge, Congenital diaphragmatic hernia, Broad nasal tip, ...	OMIM:616364
8P23.1 Microdeletion Syndrome	Prominent nasal bridge, Congenital diaphragmatic hernia, Micrognathia, Microcephaly, Wide nasal b...	ORPHA:251071
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Microcephaly, Short...	OMIM:617802
Hutchinson-Gilford Progeria Syndrome	Congestive heart failure, Angina pectoris, Myocardial infarction	OMIM:176670
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, High palate, Premature loss of teeth, Dislocate...	OMIM:102500
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Ante...	OMIM:305450
Distal Deletion 10Q	Frontal bossing, Prominent nasal bridge, Craniosynostosis, Prominent nose, Micrognathia, Microcep...	ORPHA:96148
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Micrognathia, Cleft lip, Kyphosis, Cleft palate, Chroni...	ORPHA:1724
Developmental And Epileptic Encephalopathy 6B	Ataxia, Inability to walk, Chorea, Choreoathetosis, Abnormal repetitive mannerisms	OMIM:619317
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Lumbar hyperlordosis, Abdominal pain, Dyspnea, Calf muscle hypertrophy, Thi...	ORPHA:86812
Acromelic Frontonasal Dysplasia	Midline central nervous system lipomas, Broad nasal tip, Bifid nasal tip, Brachycephaly, Bifid no...	ORPHA:1827
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ...	OMIM:613426
Aarskog-Scott Syndrome	Delayed eruption of teeth, Inguinal hernia, Anteverted nares, Camptodactyly of finger, Hypoplasia...	ORPHA:915
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Microcephaly, Carious teeth, Overweight, Brachycephaly, Obesity, Secon...	OMIM:619229
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Subglottic stenosis, Exaggerated cupid's bow, Tapered finger, Micrognathia, Feeding di...	OMIM:614501
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Kyphoscoliosis	OMIM:619099
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Macrocephaly, Advanced eruption of teeth, Short nose, Failure to thrive, ...	OMIM:617865
Pancreatitis, Hereditary	Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency	OMIM:167800
Severe X-Linked Intellectual Disability, Gustavson Type	Small for gestational age, Microcephaly, Micrognathia, Recurrent upper respiratory tract infectio...	ORPHA:3078
Zttk Syndrome	Hypoplasia of the maxilla, Feeding difficulties in infancy, Flexion contracture, Hemivertebrae, D...	OMIM:617140
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Protruding tongue, Micrognathia, Neonatal asphyxia, Respiratory insufficiency, ...	OMIM:608779
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Mandibular prognathia, Abnormality of the vertebral spinous pro...	ORPHA:1299
Babesiosis	Congestive heart failure, Myocardial infarction	ORPHA:108
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,...	OMIM:101200
Robinow-Sorauf Syndrome	Craniosynostosis, Long nose, Plagiocephaly, Pansynostosis, Malar flattening, Narrow nose	OMIM:180750
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta	OMIM:601216
Charcot-Marie-Tooth Disease Type 4C	Pes planus, Tongue atrophy, Hypoventilation, Abnormal foot morphology, Respiratory insufficiency,...	ORPHA:99949
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism, Congestive heart failure	ORPHA:3077
Distal Deletion 6P	Abnormality of the dentition, Micrognathia, Orofacial cleft, Short foot, Downturned corners of mo...	ORPHA:96125
Chromosome 17P13.1 Deletion Syndrome	Turricephaly, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Microcephaly, Bul...	OMIM:613776
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Abnormal clavicle morphology, Camptodactyly of finger, Abnorma...	ORPHA:3138
Mccune-Albright Syndrome	Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Dental malocclusion, Abnormal ...	ORPHA:562
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia	ORPHA:90037
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Thin upper lip vermilion, Long philtrum	OMIM:614741
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Distal Duplication 5Q	Prominent nasal bridge, Craniosynostosis, Micrognathia, Carious teeth, Microcephaly, Hernia, Shor...	ORPHA:96097
Myopathy And Diabetes Mellitus	Hyporeflexia of upper limbs, Achilles tendon contracture, Shoulder girdle muscle weakness, Respir...	ORPHA:2596
Fucosidosis	Failure to thrive, Lipoatrophy, Brachycephaly	ORPHA:349
Holoprosencephaly-Craniosynostosis Syndrome	Plagiocephaly, Brachycephaly, Craniosynostosis, Microcephaly	ORPHA:2163
Trisomy 20P	Frontal bossing, Inguinal hernia, Anteverted nares, Camptodactyly of finger, Micrognathia, Brachy...	ORPHA:261318
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Abdominal distention, Rickets, Hepatic failure	ORPHA:2088
Feingold Syndrome	Hallux valgus, Toe syndactyly, Micrognathia, Esophageal atresia, Deviation of the 2nd finger, Oro...	ORPHA:1305
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Micrognathia, Cleft palate, Feeding difficulties, Patellar dislocation,...	OMIM:603736
Birk-Barel Syndrome	Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft ...	OMIM:612292
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Prominent nasal bridge, Broad nasal tip, Micrognathia, Microcephaly, Wide nasal bridge, Plagiocep...	OMIM:300749
Moderate Hemophilia A	Gastrointestinal hemorrhage, Hip contracture, Arthropathy, Cartilage destruction, Limitation of j...	ORPHA:169805
Cardiofaciocutaneous Syndrome	Abnormal morphology of ulna, Pectus excavatum, Feeding difficulties in infancy, Submucous cleft h...	ORPHA:1340
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Pericarditis	ORPHA:163596
Intellectual Developmental Disorder, X-Linked 30	Short nose, Anteverted nares, Prominent nasal bridge, Microcephaly	OMIM:300558
Trisomy 12P	Turricephaly, Micrognathia, Wide nasal bridge, Malar flattening, Short nose	ORPHA:1699
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Microcephaly, Wide nasal bridge, Trigonocephaly, Short nose, Failure to t...	OMIM:619179
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Short nos...	OMIM:614069
Spinocerebellar Ataxia-Dysmorphism Syndrome	Macrocephaly, Short nose, Anteverted nares, Dolichocephaly	ORPHA:1185
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, Nasogastric tube feeding i...	ORPHA:221120
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Subglottic stenosis, Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Gastro...	ORPHA:444077
2P15P16.1 Microdeletion Syndrome	Inguinal hernia, Failure to thrive, Prominent nasal bridge, Camptodactyly of finger, Microcephaly...	ORPHA:261349
Distal Deletion 9P	Wide nasal bridge, Hernia, Trigonocephaly, Short nose, Midface retrusion	ORPHA:1642
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose, Congenital diaphragmatic hernia, Microcephaly	OMIM:300887
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An...	ORPHA:66529
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short ph...	OMIM:619127
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Low-set ears, Attention defi...	ORPHA:352490
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Depressed nasal bridge, Anteverted nares, Micrognathia, Malar flattening, Short nose, ...	OMIM:242860
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin...	OMIM:619503
Hypercholanemia, Familial 1	Fat malabsorption, Rickets, Steatorrhea	OMIM:607748
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Congenital diaphragmatic hernia, Micrognathia	OMIM:166300
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Feeding difficulties	ORPHA:26792
Bainbridge-Ropers Syndrome	Failure to thrive, Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Micrognathia...	OMIM:615485
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Pes cavus, Lumbar hyperlordosis, Sandal gap, Broad hallux, Dental crowd...	OMIM:616078
Renal And Mullerian Duct Hypoplasia	Frontal bossing, Short nose, Micrognathia	OMIM:266810
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Abnormal repetitive mannerisms, Disinhibition, Dysphagia	OMIM:612069
Holoprosencephaly 7	Omphalocele, Frontal bossing, Flat occiput, Hypoplasia of the premaxilla, Flat nasal alae, Microc...	OMIM:610828
Halperin-Birk Syndrome	Micrognathia, Flexion contracture, Hip dislocation, Pseudobulbar paralysis, High palate, Thick ve...	OMIM:618651
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate	ORPHA:2736
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Nasogastric tube feeding in infancy, Widely spaced teeth, Gastroesophageal reflux, Cleft soft pal...	ORPHA:268261
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Feeding difficulties in infancy, Gastrointestinal dysmotility, Hemiver...	ORPHA:500150
Down Syndrome	Depressed nasal bridge, Depressed nasal ridge, Brachycephaly, Obesity, Umbilical hernia, Short nose	ORPHA:870
Gaucher Disease, Perinatal Lethal	Respiratory distress, Everted upper lip vermilion, Apnea, Micrognathia, Hepatic failure, Dysphagi...	OMIM:608013
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Pes planus, Single transverse palmar crease, Micrognathia,...	OMIM:223370
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Protruding ear, Low-set ear...	OMIM:618342
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Micrognathia, High, narrow palate, Congenital contracture, High palate, Wrist ...	OMIM:208150
Infantile Sialic Acid Storage Disease	Congestive heart failure	OMIM:269920
Acromicric Dysplasia	Bulbous nose, Anteverted nares, Short nose	ORPHA:969
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Single transverse palmar crease, Protruding tongue, Micrognathia, Tho...	OMIM:619777
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Feeding difficulties in infancy, Cleft lip, Kyphosis, Cleft palate, Camptodactyly, ...	OMIM:619123
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Micrognathia, Short metatarsal, Widely spaced teeth, High palate, Narrow chest, Clino...	OMIM:266920
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Relative macrocephaly, Microcephaly, Overweight, Flexion contracture, Brachycephaly, Plagiocephal...	ORPHA:500055
Schimke Immunoosseous Dysplasia	Osteopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Dyspnea, Pulmonary arterial hypertensio...	OMIM:242900
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Microcephaly, Wide nasal bridge, Broad nasal tip	OMIM:615716
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Frontal bossing, Inguinal hernia, Depressed nasal bridge, Abnormal dental enamel morphology, Hypo...	ORPHA:1812
Aspartylglucosaminuria	Mandibular prognathia, Pes planus, Abnormal morphology of ulna, Abnormality of the dentition, Car...	ORPHA:93
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Depressed nasal bridge, Micrognathia, Microcephaly, Bulbous nose, Wide nasal bridge, Short nose, ...	OMIM:617061
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo...	OMIM:112250
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Tapered finger, Submucous cleft hard palate, Downturned corners of mout...	OMIM:619680
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Macrocephaly, Plagiocephaly, Camptodactyl...	OMIM:617822
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Hyperlordosis, Intrinsic hand muscle...	OMIM:620285
Ebstein Malformation Of The Tricuspid Valve	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C...	ORPHA:1880
Craniofacioskeletal Syndrome	Barrel-shaped chest, Thin upper lip vermilion, Pes planus, Tracheal stenosis, Micrognathia, Hypop...	OMIM:300712
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Tracheoesophageal ...	OMIM:314390
Cerebrooculonasal Syndrome	Frontal bossing, Anteverted nares, Prominent nasal bridge, Proboscis, Craniosynostosis, Brachycep...	OMIM:605627
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Frontal bossing, Wide nose, Depressed nasal bridge, Anteverted nares, Small for gestational age, ...	OMIM:613320
Dk1-Cdg	Congestive heart failure, Arrhythmia, Dilated cardiomyopathy	ORPHA:91131
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Frontal bossing, Brachyturricephaly, Depressed nasal ridge, Choanal atresia	OMIM:607597
Congenital Generalized Lipodystrophy	Overgrowth of external genitalia, Precocious puberty in females, Congestive heart failure, Polycy...	ORPHA:528
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Auriculocondylar Syndrome 3	Glossoptosis, Retrognathia, Bifid uvula, Micrognathia	OMIM:615706
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Short humerus, Short femur, Apnea, Flexion contracture, Orofacial cleft, Fe...	ORPHA:17
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly	OMIM:616083
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Depressed nasal bridge, Flat occiput, Anteverted nares, Brachycephaly	OMIM:618797
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Abnormal repetitive mannerisms, Difficulty walking	ORPHA:280763
Mandibulofacial Dysostosis With Alopecia	Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus, Wide nasal b...	OMIM:616367
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nose, Inguinal hernia, Anteverted nares, Craniosynostosis, Micrognathia, Hypoplasia of the m...	OMIM:213980
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger...	ORPHA:69085
Hemimegalencephaly	Cranial asymmetry, Macrocephaly	ORPHA:99802
Poikiloderma With Neutropenia	Frontal bossing, Depressed nasal bridge, Micrognathia, Carious teeth, Underdeveloped nasal alae, ...	OMIM:604173
Brain Malformations With Or Without Urinary Tract Defects	Inguinal hernia, Anteverted nares, Macrocephaly, Short nose, Failure to thrive	OMIM:613735
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Pectus excavatum, Esophageal atresia, Submucous cleft hard palate, Spina bifida occulta, Tracheoe...	OMIM:619227
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Incre...	OMIM:166220
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia, Limited kn...	OMIM:258315
White-Sutton Syndrome	Ventral hernia, Inguinal hernia, Depressed nasal bridge, Congenital diaphragmatic hernia, Broad n...	ORPHA:468678
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Eunuchoid habitus, Hypoplasi...	ORPHA:3044
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Mitral regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:212140
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Frontal bossing, Narrow nasal ridge, Micrognathia, Microcephaly, Bulbous n...	OMIM:619512
Meier-Gorlin Syndrome 7	Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, High palate, Dislocate...	OMIM:617063
Diamond-Blackfan Anemia 1	11 pairs of ribs, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phala...	OMIM:105650
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore...	OMIM:619580
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Frontal bossing, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Micrognathia, ...	OMIM:610759
Kury-Isidor Syndrome	Frontal bossing, Anteverted nares, Brachycephaly	OMIM:619762
Distal Deletion 15Q	Thin upper lip vermilion, Single transverse palmar crease, Abnormality of the dentition, Microgna...	ORPHA:1596
Trehalase Deficiency	Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting	ORPHA:103909
Cornelia De Lange Syndrome	Micromelia, Proximal placement of thumb, Micrognathia, Feeding difficulties in infancy, Downturne...	ORPHA:199
Monosomy 9P	Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathia, Congenital diaphragmatic...	ORPHA:261112
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Short nose, Depressed nasal bridge, Broad nasal tip	OMIM:619736
Primary Dystonia, Dyt13 Type	Abnormal repetitive mannerisms	ORPHA:98807
Nablus Mask-Like Facial Syndrome	Frontal bossing, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Hypoplasia of the ma...	OMIM:608156
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Congenital Heart Defects And Skeletal Malformations Syndrome	Frontal bossing, Congenital diaphragmatic hernia, Carious teeth, Long nose, Camptodactyly, Short ...	OMIM:617602
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Protruding tongue, Micro...	OMIM:617062
Cerebrooculonasal Syndrome	Abnormal nostril morphology, Brachycephaly	ORPHA:66625
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Frontal bossing, Inguinal hernia, Omphalocele, Anteverted nares, Failu...	OMIM:247200
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridge, Camptodactyly, ...	OMIM:610015
Pterygium Colli, Isolated	Short nose	OMIM:177990
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Frontal bossing, Anteverted nares, Camptodactyly of finger, Long nose, Bulbous...	ORPHA:261211
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Broad nasal tip, Bifid nasal tip, Parietal foramina, Wide nasa...	OMIM:603671
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Anteverted nares, Hypoplasia of the maxilla, Bulbous nose, Flexion contracture, Failure to thrive...	ORPHA:481152
Neurodegeneration With Brain Iron Accumulation 2A	Frontal bossing, Short nose, Micrognathia	OMIM:256600
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Spina bifida occulta, Upper limb...	OMIM:607323
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Triphalangeal...	ORPHA:84
Pachyonychia Congenita	Respiratory distress, Natal tooth, Angular cheilitis, Feeding difficulties, Palmoplantar keratode...	ORPHA:2309
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Laryngeal stenosis, Erosion of oral mucosa, Abnormal oral mucosa morphology...	ORPHA:79404
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares, Obesity	OMIM:619854
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Microcephaly, Brachycephaly, Wide nasal bridge, Delayed eruption of perman...	ORPHA:521445
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Anteverted nares, Lipodystrophy, Broad nasal tip, Carious teeth, Abnormal subcut...	ORPHA:357074
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Frontal bossing, Depressed nasal bridge, Anteverted nares, Micrognathia, Underdeveloped nasal ala...	OMIM:619005
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Micrognathia, Pectus excavatum, Kyphosis, High palate, Short philtrum, Radial deviation of finger...	OMIM:609944
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Diarrhea, Vomiting, Feeding difficulties	OMIM:612075
Immune-Mediated Necrotizing Myopathy	Raynaud phenomenon, Congestive heart failure, Myocarditis, Palpitations	ORPHA:206569
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d...	ORPHA:861
Mosaic Variegated Aneuploidy Syndrome 2	Frontal bossing, Depressed nasal bridge, Small for gestational age, Craniosynostosis, Micrognathi...	OMIM:614114
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ...	OMIM:620292
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Craniosynostosis, Palmoplantar cutis gyrata, Narrow palate, Cleft palate, A...	ORPHA:1555
Dentici-Novelli Neurodevelopmental Syndrome	Inability to walk, Macrotia, Abnormal repetitive mannerisms, Hearing impairment	OMIM:619877
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Laryngotracheal stenosis, Tracheoesophageal fistula, Dysphagia, Up...	ORPHA:142
Beck-Fahrner Syndrome	Microcephaly, Brachycephaly, Macrocephaly	OMIM:618798
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Short femur, Pneumothorax, Talipes equinovarus, Short tibia	OMIM:620306
Alagille Syndrome	Frontal bossing, Micrognathia, Long nose, Brachycephaly, Failure to thrive	ORPHA:52
Distal Deletion 3P	Inguinal hernia, Anteverted nares, Micrognathia, Microcephaly, Brachycephaly, Umbilical hernia	ORPHA:1620
Congenitally Uncorrected Transposition Of The Great Arteries	Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,...	ORPHA:860
Diamond-Blackfan Anemia 10	Respiratory distress, Micrognathia, Cleft palate, Supernumerary ribs, Malar flattening	OMIM:613309
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Microcephaly, Brachycephaly, Atypical scarring of skin, Campto...	OMIM:601701
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Chronic lung disease, Acute respiratory distress syndrome, Delayed cranial sutu...	OMIM:620005
Myasthenic Syndrome, Congenital, 10	Respiratory insufficiency due to muscle weakness, Tongue atrophy, Reduced vital capacity	OMIM:254300
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Feeding difficulties, Stridor, Vo...	ORPHA:137935
Skin Creases, Congenital Symmetric Circumferential, 1	Microcephaly, Depressed nasal bridge, Brachycephaly, Micrognathia	OMIM:156610
Progressive Supranuclear Palsy-Corticobasal Syndrome	Hand clenching, Respiratory distress, Dysphagia	ORPHA:240103
Saethre-Chotzen Syndrome	Depressed nasal bridge, Prominent nasal bridge, Craniosynostosis, Hypoplasia of the maxilla, Brac...	ORPHA:794
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Severely r...	ORPHA:444013
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Congestive heart failure, Ovarian neoplasm	ORPHA:137608
7Q31 Microdeletion Syndrome	Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Plagiocephaly, Macrocephaly	ORPHA:251061
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Hypoplasia of the ...	OMIM:211380
Malaria	Nausea and vomiting, Respiratory distress	ORPHA:673
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles	OMIM:264270
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
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Respiratory distress, Swelling of proximal interphalangeal joints, Ankle swelling,...	ORPHA:3260
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Joint laxity, Pes planus, Dental crowding, Kyphoscoliosis, High, narrow palate, Na...	OMIM:300967
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Gastroesophageal reflux, Short 4th toe, Ad...	OMIM:615873
Craniorachischisis	Bifid sternum, Anal atresia, Sirenomelia	ORPHA:63260
Menke-Hennekam Syndrome 2	Thin upper lip vermilion, Sandal gap, Overlapping toe, Duodenal ulcer, Micrognathia, Deep philtru...	OMIM:618333
Menkes Disease	Brachycephaly, Microcephaly	OMIM:309400
Opsismodysplasia	Frontal bossing, Flat occiput, Depressed nasal bridge, Macrocephaly, Short nose	ORPHA:2746
Coccidioidomycosis	Respiratory distress, Osteomyelitis, Pneumonia, Cough, Peritonitis, Osteolysis, Abnormal long bon...	ORPHA:228123
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Brachycephaly, Prominent nose	OMIM:619244
Kaufman Oculocerebrofacial Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Carious teeth, Microcephaly, Brachycephal...	OMIM:244450
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Prominent nasal bridge, Bulbous nose, Flexion contracture, Interphalangeal thumb joint contractur...	OMIM:613870
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia	OMIM:310200
Graves Disease, Susceptibility To, 1	Congestive heart failure	OMIM:275000
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Abnormal fingertip morphology, Abnormality of the dentition,...	ORPHA:90154
Ohdo Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Hypoplasia of teeth, S...	OMIM:249620
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Omphalocele, Depressed nasal bridge, Anteverted nares, Prominent nose, Wide nasal bridge, Macroce...	OMIM:618316
Solar Urticaria	Dyspnea, Abnormal tongue morphology, Wheezing, Abnormal lip morphology, Nausea	ORPHA:97230
Faciodigitogenital Syndrome, Autosomal Recessive	Inguinal hernia, Anteverted nares, Prominent nasal bridge, Trismus, Dental malocclusion, Brachyce...	OMIM:227330
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Plagiocephaly, Frontal bossing, Brachycephaly, Obesity	OMIM:617296
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Kyphosis, Cone-shaped epiphyses of the phalanges of the hand...	ORPHA:420794
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp...	OMIM:618825
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the premaxilla, Brachycephaly, Plagi...	ORPHA:2673
Intellectual Developmental Disorder, Autosomal Dominant 66	Plagiocephaly, Brachycephaly	OMIM:619910
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Refsum Disease, Classic	Cardiomyopathy, Arrhythmia, Congestive heart failure	OMIM:266500
3C Syndrome	Frontal bossing, Inguinal hernia, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Promin...	ORPHA:7
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Abnormal repetitive mannerisms, Large earlobe, Prominent ear helix	ORPHA:411986
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Micrognathia, Abdominal distention, Postaxial hand polydactyly, Alveola...	ORPHA:1655
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Flexion contracture, Abnormal form of the vertebral bodies, Reduced...	ORPHA:581
Congenital Disorder Of Glycosylation, Type Iit	Brachycephaly, Prominent nasal bridge, Microcephaly	OMIM:618885
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis, Hip dislocation, Rickets, Genu v...	OMIM:309000
De Barsy Syndrome	Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Brachycephaly, Prominent nasolabial fo...	ORPHA:2962
Developmental And Epileptic Encephalopathy 75	Short nose, Anteverted nares, Wide nasal bridge, Secondary microcephaly	OMIM:618437
Mucolipidosis Type Ii	Hip contracture, Respiratory failure requiring assisted ventilation, Prominent metopic ridge, Cra...	ORPHA:576
Peho Syndrome	Short nose, Retrognathia, Progressive microcephaly	OMIM:260565
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Hypospadias, Cryptorchidism, Congestive heart failure, Abnormality of the scrotum	ORPHA:2505
Diamond-Blackfan Anemia	Cleft soft palate, Absent thumb, Micrognathia, Short thumb, Partial duplication of thumb phalanx,...	ORPHA:124
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Inguinal hernia, Hypoplasia of the maxilla, Wide nasal bridge, Umbilical h...	OMIM:601499
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Short nose	OMIM:300143
Rapp-Hodgkin Syndrome	Syndactyly, Conical tooth, Cleft upper lip, Carious teeth, 2-3 toe cutaneous syndactyly, Velophar...	OMIM:129400
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Feeding difficulties, High palate, Inspiratory stridor, I...	OMIM:604377
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Lumbar hyperlordosis, Micrognathia, Cleft lip, Furrowed tongue, Feeding difficulties,...	OMIM:616975
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Congestive heart failure, Internal hemorrhage, Pulmonary embolism	ORPHA:90308
Ayme-Gripp Syndrome	Mandibular prognathia, Depressed nasal bridge, Wide nasal bridge, Brachycephaly, Camptodactyly, M...	OMIM:601088
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Short foot, Joint hyperflexibility, Hand polydactyly, High ...	ORPHA:250989
Atypical Werner Syndrome	Sclerosis of hand bone, Pes planus, Increased bone mineral density, Abnormality of the Achilles t...	ORPHA:79474
Hartnup Disorder	Glossitis	OMIM:234500
Ritscher-Schinzel Syndrome 4	Plagiocephaly, Brachycephaly, Wide nasal bridge	OMIM:619435
Folinic Acid-Responsive Seizures	Respiratory distress, Abdominal distention, Apnea	ORPHA:79097
Aarskog-Scott Syndrome	Inguinal hernia, Anteverted nares, Hypoplasia of the maxilla, Wide nasal bridge, Short nose, Fail...	OMIM:305400
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy, Areflexia of upper limbs, Areflexia of lower limbs, Talipes equinovarus, Scoliosis	OMIM:616155
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness, Dysphagia	OMIM:613561
Diarrhea 12, With Microvillus Atrophy	Osteopenia, Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, De...	OMIM:619445
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Failure to thrive, Microcephaly, Wide nasal bridge, Joint contracture, Retrognathia, Short nose	OMIM:618005
Bannayan-Riley-Ruvalcaba Syndrome	Frontal bossing, Wide nose, Anteverted nares, Cachexia, Micrognathia, Macrocephaly, Dolichocephal...	ORPHA:109
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma...	OMIM:617600
American Trypanosomiasis	Myocarditis, Cardiomyopathy, Arrhythmia, Congestive heart failure	ORPHA:3386
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Ataxia, Chorea, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics	OMIM:619725
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Pes planus, Single transverse palmar crease, Gastrointestinal dysmotili...	ORPHA:466943
Cerebellar Ataxia-Hypogonadism Syndrome	Brachycephaly	ORPHA:1173
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Broad nasal tip, Wide nasal bridge, Plagiocephaly, Malar flattening, Short...	OMIM:239300
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Productive cough, Nonproductive cou...	ORPHA:454836
Loeys-Dietz Syndrome 3	Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, High palate, ...	OMIM:613795
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Orofacial cleft, Abnormal form of the vertebral bo...	OMIM:194190
Symptomatic Form Of Hfe-Related Hemochromatosis	Hypogonadotropic hypogonadism, Portal hypertension, Congestive heart failure, Cardiomyopathy, Arr...	ORPHA:465508
Pancreatic insufficiency, combined exocrine	Congestive heart failure	OMIM:260450
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Wide nose, Frontal bossing, Anteverted nare...	ORPHA:192
Ring Chromosome 22 Syndrome	Protruding tongue, 2-3 toe syndactyly, Large hands, Thick vermilion border, Pleural effusion	ORPHA:1446
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Depressed nasal bridge, Microcephaly, Bulbous nose, Short nose	ORPHA:261144
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Congestive heart failure	ORPHA:500533
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Anorexia, Crackles, Nonproductive cough, Dyspnea, W...	ORPHA:1302
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Frontal bossing, Bulbous nose, Wide nasal bridge, Dolichocephaly, Short nose	OMIM:618571
Developmental And Epileptic Encephalopathy 64	Inability to walk, Chorea, Self-injurious behavior, Bruxism, Macrotia, Abnormal repetitive manner...	OMIM:618004
Oromandibular Dystonia	Respiratory distress, Abnormality of the temporomandibular joint, Abnormal mandible morphology, A...	ORPHA:93958
Progressive Non-Infectious Anterior Vertebral Fusion	Brachycephaly, Depressed nasal bridge, Wide nasal bridge, Micrognathia	ORPHA:2062
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Rhizomelia, Micrognathia, Brachioradialis areflexia, Trismus, Flexion contr...	OMIM:616271
Coffin-Siris Syndrome 12	Joint laxity, Micrognathia, Celiac disease, Short thumb, Slender finger, Velopharyngeal insuffici...	OMIM:619325
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Anteverted nares, Biparietal narrowing, Underdeveloped nasal alae	ORPHA:2031
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Micrognathia, Open bite, Deep philtrum, Short foot, Wi...	ORPHA:1974
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Death in childhood, Death in adolescence, Osteoporosis, Rickets	OMIM:560000
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Frontal bossing, Failure to thrive, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Mi...	OMIM:617157
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Small for gestational age, Craniosynostosis, Broad nasal tip, Micrognathi...	OMIM:309590
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl...	ORPHA:2975
Osteogenesis Imperfecta, Type Xi	Brachycephaly, Dentinogenesis imperfecta	OMIM:610968
Smith-Lemli-Opitz Syndrome	Dental crowding, Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndact...	OMIM:270400
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Failure to thrive, Foot joint contracture, Achilles tendon contracture, Brachycephaly, Secondary ...	ORPHA:456312
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Gait ataxia, Prominent antihelix, Difficulty walking, Abnormal repetitive manne...	OMIM:617807
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Anterior open-bite malocclusion, Short nose, Anteverted nares, Midface retrusion	OMIM:617877
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cardiomyopathy, Congestive heart failure	ORPHA:52430
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Tongue atrophy, P...	ORPHA:101085
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Micrognathia, Sh...	OMIM:619841
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Episodic Ataxia Type 1	Respiratory distress, Kyphoscoliosis, Calf muscle hypertrophy, Scoliosis, Hand clenching, Nausea	ORPHA:37612
Weill-Marchesani Syndrome 1	Hypoplasia of the maxilla, Broad skull, Depressed nasal bridge, Brachycephaly	OMIM:277600
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Short nose, Anteverted nares	ORPHA:2701
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Walker-Warburg Syndrome	Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:899
Tetrasomy 18P	Short nose, Microcephaly	ORPHA:3307
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio...	ORPHA:2924
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Anterior rib cupping, Pneumonia, Horizontal inferior border of scapula, Diarrhea, Chro...	OMIM:102700
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Abnormal repetitive mannerisms, Bruxism, Hearing impairment	OMIM:616351
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Inguinal hernia, Depressed nasal bridge, Micrognathia, Brachycephaly, Macr...	ORPHA:85276
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy, Dysphagia	ORPHA:216873
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Frontal bossing, Wide nose, Prominent nasal bridge, Hypoplasia of the ...	ORPHA:50814
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Micrognathia, Metatarsus adductus, Feeding difficulties in infancy, ...	ORPHA:513456
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Frontal bossing, Camptodactyly of finger, Microcephaly, Brachycephaly	ORPHA:1236
Chromosome 1P36 Deletion Syndrome, Distal	Feeding difficulties in infancy, Orofacial cleft, High palate, Gastroesophageal reflux, Clinodact...	OMIM:607872
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Anteverted nares, Choanal atresia, Short nose	ORPHA:1914
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Mandibular aplasia, Microglossia, Respiratory distress, Narrow mouth	ORPHA:990
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Short nose, Microcephaly	OMIM:618087
Restrictive Dermopathy	Osteopenia, Natal tooth, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple j...	ORPHA:1662
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea	OMIM:616868
Tetanus	Respiratory distress, Stiff neck, Bowel incontinence, Abdominal pain, Trismus, Tachypnea, Dysphagia	ORPHA:3299
Al-Raqad Syndrome	Short nose, Microcephaly	OMIM:616459
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Palmopl...	OMIM:615108
Chromosome 14Q11-Q22 Deletion Syndrome	Inguinal hernia, Depressed nasal bridge, Micrognathia, Microcephaly, Wide nasal bridge, Plagiocep...	OMIM:613457
Succinic Acidemia	Respiratory distress	OMIM:600335
Fetal Hydantoin Syndrome	Short nose, Depressed nasal ridge, Hernia, Microcephaly	ORPHA:1912
Alg9-Cdg	Microretrognathia, Frontal bossing, Omphalocele, Depressed nasal bridge, Lipodystrophy, Micrognat...	ORPHA:79328
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Neuromuscular dysphagia	ORPHA:240085
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Depressed nasal bridge, Brachycephaly, Camptodactyly, Malar flattening, Short nose	OMIM:601353
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Epiphyseal dysplasia, Congenital hip dislocation, Micrognathia, Feeding difficulties,...	OMIM:617913
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Diarrhea, Chronic pulmonary obstruction, Pneumothorax, B...	ORPHA:411703
Pentalogy Of Cantrell	Talipes, Abnormal tibia morphology, Split hand, Non-midline cleft lip, Cleft palate, Orofacial cl...	ORPHA:1335
Duplication Of The Pituitary Gland	Microcephaly, Supernumerary tooth, Brachyturricephaly, Decreased body weight, Retrognathia, Midfa...	ORPHA:314621
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties,...	ORPHA:927
7Q11.23 Microduplication Syndrome	Inguinal hernia, Craniosynostosis, Broad nasal tip, Micrognathia, Congenital diaphragmatic hernia...	ORPHA:96121
16P12.1P12.3 Triplication Syndrome	Failure to thrive, Bulbous nose, Malar flattening, Short nose, Retrognathia	ORPHA:485405
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Abnormal repetitive mannerisms, Macrotia, Gait disturbance, Self-mutilation	ORPHA:457240
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:611126
Distal Deletion 12Q	Single transverse palmar crease, Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the mid...	ORPHA:96149
Distal Xq28 Microduplication Syndrome	Epistaxis, Microcephaly, Hypoplasia of the maxilla, Broad nasal tip, Recurrent upper respiratory ...	ORPHA:293939
Classic Multiminicore Myopathy	Congestive heart failure, Right ventricular failure	ORPHA:324604
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype...	OMIM:301500
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure...	OMIM:614299
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Downturned corners of mouth, Hypoplastic vertebral bodies, Short philtrum, Premature ...	ORPHA:3455
Pparg-Related Familial Partial Lipodystrophy	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Polycystic ovaries	ORPHA:79083
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Feeding difficulties, Neoplas...	ORPHA:3047
Werner Syndrome	Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Ovarian neoplasm, Hy...	ORPHA:902
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Jacobsen Syndrome	Flat occiput, Depressed nasal bridge, Anteverted nares, Micrognathia, Microcephaly, Flexion contr...	OMIM:147791
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Respiratory...	OMIM:265120
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodontia, Ga...	OMIM:612289
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Concave nasal ridge, Short nose, Failure to thrive	OMIM:170100
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ...	ORPHA:103907
Acrofacial Dysostosis, Catania Type	Microretrognathia, Inguinal hernia, Microcephaly, Carious teeth, Hypoplasia of the zygomatic bone...	ORPHA:1786
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Hypertrophic cardiomyopathy, Polycystic ovaries	ORPHA:2348
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti...	OMIM:613662
Hereditary Angioedema Type 1	Respiratory distress, Tongue edema, Intestinal edema, Abdominal pain, Abnormal soft palate morpho...	ORPHA:100050
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Compulsive behaviors, Att...	OMIM:300986
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Flexion contracture, Genu valgum, Downturned corners o...	OMIM:619321
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Single transverse palmar crease, Oral-pharyngeal dysphagia, Small hand, Ost...	OMIM:615273
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Flexion contracture, Feeding difficulties	OMIM:616733
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure	ORPHA:53721
Vacterl With Hydrocephalus	Absence of the sacrum, Micrognathia, Esophageal atresia, Hypoplasia of the radius, Hip dislocatio...	ORPHA:3412
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171300
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Feeding difficulties ...	ORPHA:438216
Coffin-Siris Syndrome 7	Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio...	OMIM:618027
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Palmopl...	OMIM:615109
Tularemia	Respiratory distress, Pneumonia, Oral ulcer, Cough, Pleural effusion	ORPHA:3392
Athyreosis	Macroglossia, Constipation, Abdominal distention, Feeding difficulties	ORPHA:95713
C Syndrome	Joint dislocation, Micromelia, Micrognathia, High palate, Clinodactyly of the 5th finger, Abnorma...	ORPHA:1308
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Frontal bossing, Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Micro...	OMIM:614080
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations, Respiratory failure, Dysphagia	OMIM:613435
Tolchin-Le Caignec Syndrome	Arachnodactyly, Micrognathia, Submucous cleft hard palate, High palate, Narrow mouth, Clinodactyl...	OMIM:618971
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Single transverse palmar crease, Protruding tongue, Submucous cleft hard palate,...	OMIM:618106
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:618961
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Limb joint contracture, Microcephaly, Flexion contracture, Brachycepha...	OMIM:301072
Faciocardiorenal Syndrome	Plagiocephaly, Failure to thrive, Wide nasal bridge, Underdeveloped nasal alae	ORPHA:1973
Hypohidrotic Ectodermal Dysplasia	Frontal bossing, Sinusitis, Anteverted nares, Hypoplasia of the maxilla, Failure to thrive	ORPHA:238468
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Micrognathia, Talipes calcaneovalgus, Widely-spaced maxillary central...	OMIM:309580
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Inguinal hernia, Camptodactyly of finger, Hypoplasia of the maxilla, Plagi...	ORPHA:1101
Craniofrontonasal Syndrome	Frontal bossing, Congenital diaphragmatic hernia, Bifid nasal tip, Brachycephaly, Wide nasal brid...	OMIM:304110
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p...	OMIM:300166
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Frontal bossing, Anteverted nares, Brachycephaly, Wide nasal bridge, Macrocephaly	OMIM:616728
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Meckel Syndrome, Type 1	Syndactyly, Bowing of the long bones, Thin upper lip vermilion, Natal tooth, Camptodactyly of fin...	OMIM:249000
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Micrognathia, Multiple enchondromatosis, Hammertoe, Adenocarcinoma of the colon, Pes cavus	OMIM:620189
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms, Gait disturbance	OMIM:301094
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Overlapping toe, Protruding tongue, Long upper lip, ...	ORPHA:99843
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow...	ORPHA:769
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:261537
Lathosterolosis	Anteverted nares, Micrognathia, Microcephaly, Bulbous nose, Biparietal narrowing, Short nose, Fai...	ORPHA:46059
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Achilles tendon contracture, Brachycephaly, Secondary microcephaly, Failure to thrive, Midface re...	OMIM:616263
Intellectual Developmental Disorder, Autosomal Dominant 53	Posterior plagiocephaly, Macrocephaly, Brachycephaly, Microcephaly	OMIM:617798
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Tongue edema, Upper airway obstruction, Swollen lip	ORPHA:100057
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re...	OMIM:610042
Cri-Du-Chat Syndrome	Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Low-set ears, Di...	OMIM:123450
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s...	OMIM:300048
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:276621
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a...	OMIM:619121
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Tachycardia	ORPHA:90033
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Microcephaly, Underdeveloped nasal alae, Abnormal nostril morphology, ...	ORPHA:2315
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Primary testicular failure, Congestive heart failure, Oligozoospermi...	ORPHA:85450
Alazami Syndrome	Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty...	ORPHA:319671
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Hy...	ORPHA:99901
9Q33.3Q34.11 Microdeletion Syndrome	Wide nose, Epistaxis, Microcephaly, Bulbous nose, Brachycephaly, Plagiocephaly	ORPHA:495818
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Pediatric-Onset Graves Disease	Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia	ORPHA:525731
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ...	ORPHA:449291
Andersen-Tawil Syndrome	Abnormality of dental color, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathi...	ORPHA:37553
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Prominent nasal tip, Frontal bossing, Broad nasal tip, Microcephaly, Scaph...	OMIM:620330
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Nausea and vomiting, Respiratory distress, Anorexia, Abdominal pain, Feeding difficulties	ORPHA:79312
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Cleft hard palate, Gastrointestinal dysmotility, Calcaneo...	ORPHA:2152
Celiac Disease, Susceptibility To, 1	Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Osteoporosis, Rickets, Vomiting, ...	OMIM:212750
Trisomy 10P	Frontal bossing, Depressed nasal bridge, Anteverted nares, Small for gestational age, Abnormality...	ORPHA:171929
Arthrogryposis, Distal, Type 4	Depressed nasal bridge, Cranial asymmetry, Camptodactyly of 2nd-5th fingers, Distal arthrogryposi...	OMIM:609128
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Anosmia, Hypoplasia of the zygomatic bone, Short nose	ORPHA:1295
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Anteverted nares, Underdev...	OMIM:300912
Trichothiodystrophy 1, Photosensitive	Small for gestational age, Microcephaly, Flexion contracture, Absence of subcutaneous fat, Short ...	OMIM:601675
Intellectual Developmental Disorder, Autosomal Recessive 71	Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Double Outlet Right Ventricle	Intestinal malrotation, Abnormality of cartilage of external ear, Submucous cleft hard palate, Ta...	ORPHA:3426
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Microcephaly, Hypoplasia of teeth, Short nose, Retrognathia	OMIM:234050
Eosinophilic Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial infarction, Congestive...	ORPHA:183
Snijders Blok-Campeau Syndrome	Broad-based gait, Unsteady gait, Low-set ears, Attention deficit hyperactivity disorder, Abnormal...	OMIM:618205
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Heart murmur	ORPHA:1054
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Malar flattening, Brachycephaly, Wide nasal bridge	OMIM:201180
Thyroid Hemiagenesis	Macroglossia, Constipation, Abdominal distention	ORPHA:95719
5Q14.3 Microdeletion Syndrome	Short nose, Anteverted nares	ORPHA:228384
Neuroocular Syndrome	Hyperextensibility of the finger joints, Scapular winging, Pes planus, Genu recurvatum, Tapered f...	OMIM:619539
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Vomiting	OMIM:237310
Ruvalcaba Syndrome	Inguinal hernia, Short nose, Convex nasal ridge, Microcephaly	ORPHA:3121
Bifid Nose With Or Without Anorectal And Renal Anomalies	Brachycephaly, Bulbous nose, Bifid nose	OMIM:608980
Primary Dystonia, Dyt4 Type	Respiratory distress, Kyphoscoliosis, Dysphagia, Movement abnormality of the tongue, Open mouth	ORPHA:98805
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Large earlobe, Gait imbalance, Low-set ears, Dysphagia,...	OMIM:619312
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets	OMIM:613388
Congenital Diaphragmatic Hernia	Respiratory distress, Prominent sternum, Intestinal malrotation, Hypoxemia	ORPHA:2140
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Abnormal thorax morphology, Gingival ...	ORPHA:508542
Nipah Virus Disease	Nausea and vomiting, Respiratory distress, Anorexia, Cough	ORPHA:99825
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Downturned corners of mouth, Narrow chest, Genu varum, Long to...	OMIM:264090
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Depressed nasal bridge, Craniosynostosis, Cranial hyperostosis, Brachyceph...	ORPHA:309282
Congenital Myopathy 13	Microcephaly, Micrognathia, Flexion contracture, Brachycephaly, Midface retrusion	OMIM:255995
Carpenter Syndrome 2	Frontal bossing, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Carious teeth, Oxyce...	OMIM:614976
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxill...	ORPHA:306542
Trisomy 18	Microretrognathia, Omphalocele, Choanal atresia, Congenital diaphragmatic hernia, Camptodactyly o...	ORPHA:3380
Ring Chromosome 7 Syndrome	Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Microcephaly, Wide nasal bridge,...	ORPHA:1449
Tetraamelia Syndrome 2	Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Amelia, Ankylog...	OMIM:618021
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Joubert Syndrome 1	Central apnea, Episodic tachypnea, Protruding tongue, Postaxial hand polydactyly, Postaxial foot ...	OMIM:213300
Aortic Arch Interruption	Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms...	ORPHA:2299
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy...	ORPHA:727
Down Syndrome	Joint laxity, Sandal gap, Single transverse palmar crease, Aganglionic megacolon, Protruding tong...	OMIM:190685
Hyperkalemic Periodic Paralysis	Congestive heart failure, Arrhythmia	ORPHA:682
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Short nose, Micrognathia	ORPHA:496790
Idiopathic Neonatal Atrial Flutter	Feeding difficulties in infancy, Tachypnea, Respiratory distress	ORPHA:45452
Chand Syndrome	Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol...	ORPHA:1401
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Fat malabsorption, Rickets	OMIM:211600
Oculodentodigital Dysplasia	Mandibular prognathia, Narrow nasal bridge, Anteverted nares, Abnormal dental enamel morphology, ...	ORPHA:2710
Barber-Say Syndrome	Delayed eruption of teeth, Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Veloph...	OMIM:209885
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:391307
Alstrom Syndrome	Hypertension, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Congestive heart failure	OMIM:203800
Fraser Syndrome	Subglottic stenosis, Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Death in ...	ORPHA:2052
Combined Oxidative Phosphorylation Deficiency 25	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Short nose, Failure to thrive	OMIM:616430
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Bulbous nose, Depressed nasal bridge, Choanal atresia, Short nose	ORPHA:284169
Arterial Calcification, Generalized, Of Infancy, 1	Hypertension, Dilated cardiomyopathy, Congestive heart failure, Myocardial infarction	OMIM:208000
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Hypoplasia of the zygomatic bone, Brachycephaly	OMIM:614800
Lead Poisoning	Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Asthma, C...	ORPHA:330015
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Meckel Syndrome	Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Talipes, Micrognathia, Preaxial hand ...	ORPHA:564
Loeys-Dietz Syndrome	Joint dislocation, Pes planus, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Microgn...	ORPHA:60030
Adiposis Dolorosa	Abdominal distention, Constipation	OMIM:103200
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Palmopl...	OMIM:158350
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure	ORPHA:75564
Brachytelephalangic Chondrodysplasia Punctata	Broad nasal tip, Hypoplasia of the maxilla, Depressed nasal ridge, Nasal congestion, Hypoplasia o...	ORPHA:79345
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Cleft soft palate, Micrognathia, Feeding difficulties, Hypoxemia, Submucous cleft soft palate, Pu...	ORPHA:2282
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnorm...	OMIM:616393
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Thick vermilion border, Talipes equinovarus, Cleft palate	ORPHA:250999
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Depressed nasal bridge, Craniosynostosis, Micrognathia, Brachycephaly, Wide nasal bridge, Obesity...	ORPHA:369837
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Arrhythmia, Dilated cardiomyopathy	OMIM:609015
Charge Syndrome	Delayed eruption of teeth, Talipes, Cleft upper lip, Abnormal soft palate morphology, Feeding dif...	ORPHA:138
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Congestive heart failure, Dilated cardiomyopathy, Portal hypertension	ORPHA:367
Holoprosencephaly 9	Depressed nasal bridge, Hypoplasia of the premaxilla, Microcephaly, Hypoplasia of the maxilla, Ag...	OMIM:610829
Mitochondrial Neurogastrointestinal Encephalomyopathy	Small intestinal dysmotility, Poor appetite, Abnormality of the hand, Atrophic muscularis propria...	ORPHA:298
Potocki-Lupski Syndrome	Abnormal repetitive mannerisms, Hyperactivity, Oral-pharyngeal dysphagia, Hearing impairment	OMIM:610883
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal pterygium, Cutaneous ...	OMIM:119500
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Osteomyelitis, Pneumonia, Abdominal pain, Abnormality of the low...	ORPHA:36234
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Obsessive-compul...	ORPHA:168491
Ramos-Arroyo Syndrome	Respiratory distress, Aganglionic megacolon, Carious teeth, Feeding difficulties in infancy, Xero...	ORPHA:1051
Gapo Syndrome	Frontal bossing, Depressed nasal bridge, Anteverted nares, Micrognathia, Eruption failure, Plagio...	OMIM:230740
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Arrhythmia	ORPHA:746
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Joint stiffness, Flexion contrac...	ORPHA:505248
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Oculocerebral Hypopigmentation Syndrome, Cross Type	Inguinal hernia, Depressed nasal bridge, Anteverted nares, Microcephaly, Dolichocephaly, Short nose	ORPHA:2719
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Cerebrofacioarticular Syndrome	Micrognathia, Hypoplasia of the maxilla, Bilateral choanal atresia/stenosis, Microcephaly, Wide n...	ORPHA:314679
4Q21 Microdeletion Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Low-set ears, Hearing impairment	ORPHA:238750
Aymé-Gripp Syndrome	Inguinal hernia, Depressed nasal bridge, Craniosynostosis, Congenital diaphragmatic hernia, Brach...	ORPHA:1272
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Prominent nasal bridge, Brachycephaly, Wide nasal bridge, Advanced eruption of teeth...	ORPHA:1519
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Frontal bossing, Turricephaly, Anteverted nares, Prominent nasal bridge, D...	OMIM:612474
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Limitation of movement at ankles, Protruding tongue, Feeding difficulties,...	ORPHA:98794
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist...	ORPHA:70591
Fraser Syndrome 2	Intestinal malrotation, Abdominal distention, Rectal atresia, Short thorax, Cutaneous syndactyly,...	OMIM:617666
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Dyspnea, Abdominal distention	OMIM:174050
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:261552
Monosomy 9Q22.3	Delayed eruption of teeth, Large for gestational age, Macrocephaly, Trigonocephaly, Umbilical her...	ORPHA:77301
48,Xxyy Syndrome	Chronic otitis media, Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity dis...	ORPHA:10
Primary Effusion Lymphoma	Dyspnea, Abdominal distention, Pleural effusion, Abdominal pain	ORPHA:48686
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Feeding difficulties, Death in childhood	OMIM:615597
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Abdominal pain, Feeding difficulties, Respiratory failure, Dysphagia	OMIM:620166
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Cardiomyopathy, Congestive heart failure	OMIM:616866
Pontocerebellar Hypoplasia, Type 10	Underdeveloped nasal alae, Microcephaly, Bulbous nose, Wide nasal bridge, Short nose, Progressive...	OMIM:615803
Loeys-Dietz Syndrome 2	Micrognathia, Pectus carinatum, Abnormal sternum morphology, Bifid uvula, Joint laxity, Syndactyl...	OMIM:610168
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Impaired pain sensation, Gait ataxia, Low-set ears, Abnormal repetitive mannerisms, Overfriendliness	OMIM:616579
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia	ORPHA:31824
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Posteri...	OMIM:306955
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High...	OMIM:220110
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, M...	OMIM:618454
Rhombencephalosynapsis	Microretrognathia, Short nose, Anteverted nares, Macrocephaly	ORPHA:59315
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Frontal bossing, Inguinal hernia, Depressed nasal bridge, Large for ge...	OMIM:280000
Recon Progeroid Syndrome	Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, Narrow nasal ridge, Under...	OMIM:620370
Rett Syndrome	Inability to walk, Gait disturbance, Agitation, Difficulty walking, Abnormal repetitive mannerism...	ORPHA:778
Gm1 Gangliosidosis	Congestive heart failure, Abnormality of the scrotum, Cardiomyopathy	ORPHA:354
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Abnormal r...	OMIM:617751
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox...	OMIM:610978
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Abnormal repetitive mannerisms	OMIM:618067
1P21.3 Microdeletion Syndrome	Broad nasal tip, Micrognathia, Obesity, Macrocephaly, Short nose	ORPHA:293948
Congenital Pancreatic Cyst	Abdominal distention, Vomiting, Anorexia, Abdominal pain	ORPHA:313906
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Intestinal malrotation, Pectus excavatum, Cough, Tachypnea, Esophageal ...	OMIM:613658
Jaberi-Elahi Syndrome	Short nose, Failure to thrive, Depressed nasal bridge, Microcephaly	OMIM:617988
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Depressed nasal bridge, Broad nasal tip, Brachycephaly, Depressed nasal tip, Contracture of the p...	OMIM:618223
Waardenburg Syndrome Type 1	Mandibular prognathia, Short nose, Wide nasal bridge, Underdeveloped nasal alae	ORPHA:894
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses...	OMIM:617796
Degcags Syndrome	Osteopenia, Micrognathia, Oral-pharyngeal dysphagia, High palate, Gastroesophageal reflux, Syndac...	OMIM:619488
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Nausea and vomiting, Respiratory distress	ORPHA:289916
Congenital Sialidosis Type 2	Polydactyly, Gingival overgrowth, Protruding tongue	ORPHA:93400
Rauch-Steindl Syndrome	Attached earlobe, Hyperactivity, Miscarriage, Aggressive behavior, Prominent crus of helix, Protr...	OMIM:619695
Myhre Syndrome	Mandibular prognathia, Small for gestational age, Prominent nasal bridge, Microcephaly, Hypoplasi...	OMIM:139210
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Respiratory failure, Tachypnea, Cough	OMIM:263000
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Generalized Arterial Calcification Of Infancy	Respiratory distress, Abnormality of the knee, Calcification of the auricular cartilage, Osteomal...	ORPHA:51608
Juvenile Neuronal Ceroid Lipofuscinosis	Loss of ambulation, Abnormal repetitive mannerisms, Dysphagia	ORPHA:79264
Chromosome 18Q Deletion Syndrome	Hypospadias, Cryptorchidism, Congestive heart failure, Aortic valve stenosis, Micropenis	OMIM:601808
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Khan-Khan-Katsanis Syndrome	Frontal bossing, Micrognathia, Microcephaly, Corneal scarring, Joint contracture, Short nose, Fai...	OMIM:618460
Alternating Hemiplegia Of Childhood	Respiratory distress, Exaggerated cupid's bow, Apnea, Anorexia, Oral-pharyngeal dysphagia, Abdomi...	ORPHA:2131
X-Linked Agammaglobulinemia	Sinusitis, Osteomyelitis, Malabsorption, Chronic diarrhea, Recurrent pneumonia, Glossoptosis, Art...	ORPHA:47
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Mi...	ORPHA:508533
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Wide anterior fontanel, Vomiting, Neonatal death, Nausea	OMIM:231680
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Missing ribs, Abdominal distention, Rib fusion, Hemivertebrae,...	OMIM:271520
Opitz Gbbb Syndrome	Natal tooth, Prominent metopic ridge, Craniosynostosis, Micrognathia, Feeding difficulties in inf...	ORPHA:2745
Micro Syndrome	Anteverted nares, Microcephaly, Micrognathia, Wide nasal bridge, Short nose	ORPHA:2510
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Micrognath...	OMIM:606170
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Brachycephaly	ORPHA:371428
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:605676
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ...	ORPHA:91139
Galloway-Mowat Syndrome 6	Abnormal repetitive mannerisms, Paroxysmal bursts of laughter	OMIM:618347
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Micrognathia, Cessation of head growth, Contractures of the large joints, Short nose, Failure to ...	OMIM:617527
Volvulus Of Midgut	Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv...	OMIM:193250
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Unilat...	OMIM:619103
Multiple Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Arrhythmia, Congestive heart failure	ORPHA:26791
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Self-mutilation	OMIM:300486
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Poly...	ORPHA:280365
Small Bowel Atresia	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif...	ORPHA:1201
Japanese Encephalitis	Respiratory distress, Stiff neck, Genu recurvatum, Anorexia, Abdominal pain, Diarrhea, Elbow flex...	ORPHA:79139
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Abnormality of the temporomandibular joint, Protruding tongue, Hyperlordosis, Fl...	ORPHA:258
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	ORPHA:208447
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Brachycephaly, Flat occiput, Depressed nasal ridge, Wide nasal bridge	ORPHA:2211
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner...	OMIM:618914
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Thoracic scoliosis, Broad hallux, Single t...	OMIM:620186
Acquired Methemoglobinemia	Respiratory distress, Abdominal pain, Dyspnea, Hypoxemia, Vomiting	ORPHA:464453
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:29072
Infantile Krabbe Disease	Respiratory distress, Nasogastric tube feeding in infancy, Feeding difficulties, Ankle clonus, Re...	ORPHA:206436
Renpenning Syndrome 1	Mandibular prognathia, Micrognathia, Microcephaly, Bulbous nose, Wide nasal bridge, Brachycephaly...	OMIM:309500
Lipoid Proteinosis	Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala...	ORPHA:530
Oculodentodigital Dysplasia	Narrow nasal bridge, Anteverted nares, Narrow nose, Underdeveloped nasal alae, Carious teeth, Mic...	OMIM:164200
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension, High palate	OMIM:619272
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly	ORPHA:2988
Mietens Syndrome	Wide nose, Wide nasal bridge, Short nose, Microcephaly	ORPHA:2557
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Bowel incontinence, Hyperlordosis, Feeding difficulties in infan...	ORPHA:365
Loeys-Dietz Syndrome 1	Joint laxity, Arachnodactyly, Eosinophilic infiltration of the esophagus, Micrognathia, Craniosyn...	OMIM:609192
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion c...	OMIM:268300
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Metaphyseal widening, Rickets, Genu valgum, Dysphagia, Hypophosphatemi...	OMIM:219800
Kbg Syndrome	Anteverted nares, Prominent nasal bridge, Microcephaly, Underdeveloped nasal alae, Brachycephaly	OMIM:148050
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Gm1-Gangliosidosis, Type I	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:230500
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he...	OMIM:620066
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Protruding tongue, Feeding difficulties, Wide mouth, Widely spaced teeth, ...	ORPHA:98795
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Monosomy 18Q	Left-to-right shunt, Bilateral cryptorchidism, Congestive heart failure, Mitral regurgitation, Ao...	ORPHA:1600
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Reye syndrome-like episo...	ORPHA:348
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal earlobe m...	ORPHA:500159
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte...	ORPHA:31826
Rett Syndrome, Congenital Variant	Chorea, Tongue thrusting, Protruding ear, Athetosis, Bruxism, Abnormal repetitive mannerisms	OMIM:613454
Cutis Marmorata Telangiectatica Congenita	Short lower limbs, Bowing of the legs	OMIM:219250
Hunter-Macdonald Syndrome	Inguinal hernia, Brachycephaly, Umbilical hernia, Camptodactyly, Malar flattening, Joint contract...	OMIM:611962
Porphyria Due To Ala Dehydratase Deficiency	Ankle flexion contracture, Abdominal pain, Abdominal distention, Diarrhea, Respiratory insufficie...	ORPHA:100924
Cowden Syndrome	Pectus excavatum, Kyphosis, Bone cyst, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Pa...	ORPHA:201
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Tongue atrophy, Pes planus, Reduced vital capacity, Kyph...	ORPHA:99956
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Crackles, Abdominal distention, Dyspnea, Chronic diarrhea, Asthma, Bron...	OMIM:620233
Cutis Laxa, Autosomal Dominant 1	Uterine prolapse, Congestive heart failure, Mitral regurgitation, Aortic regurgitation	OMIM:123700
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia	OMIM:606763
Mercury Poisoning	Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Respiratory failure, Interstiti...	ORPHA:330021
Macrocephaly-Developmental Delay Syndrome	Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:397612
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Rachitic rosary	OMIM:612089
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypoplasia of the maxilla, Wide nasal bridge, Bilateral choanal atresia	OMIM:106260
3Q29 Microdeletion Syndrome	Prominent nasal bridge, Microcephaly, Macrocephaly, Short nose, Failure to thrive	ORPHA:65286
Osteopetrosis With Renal Tubular Acidosis	Failure to thrive, Persistence of primary teeth, Micrognathia, Brachycephaly, Plagiocephaly, Prom...	ORPHA:2785
22Q11.2 Duplication Syndrome	Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno...	ORPHA:1727
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Depressed nasal bridge, Small ...	OMIM:268400
Lelis Syndrome	Mandibular prognathia, Carious teeth, Palmoplantar hyperkeratosis, Furrowed tongue, Hypodontia	ORPHA:140936
White-Kernohan Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Obesity, Short nose, Retrogn...	OMIM:619426
Capillary Malformation-Arteriovenous Malformation	Epistaxis, High-output congestive heart failure, Congestive heart failure, Telangiectasia, Cerebr...	ORPHA:137667
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis...	ORPHA:95430
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Abdominal distention, Osteoporosis	ORPHA:369
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Bulbous nose, Brachycephaly, Cam...	ORPHA:3063
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Phelan-Mcdermid Syndrome	Broad-based gait, Impaired pain sensation, Aggressive behavior, Unsteady gait, Tongue thrusting, ...	OMIM:606232
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Reduced subcutaneous adipose tissue, Anteverted nares, Broad nasal tip, Hy...	OMIM:617402
Thyroid Lymphoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia	ORPHA:97285
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Frontal bossing, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rh...	OMIM:305100
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Protruding tongue, Feeding difficulties, Wide mouth, Widely spaced teeth, ...	ORPHA:411511
Vater/Vacterl Association	Syndactyly, Laryngeal stenosis, Absent radius, Short thumb, Esophageal atresia, Hypoplasia of the...	OMIM:192350
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Microform Holoprosencephaly	Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Microcephaly, Short nose	ORPHA:280200
Blepharophimosis-Impaired Intellectual Development Syndrome	Posteriorly rotated ears, Attention deficit hyperactivity disorder, Low-set ears, Abnormal repeti...	OMIM:619293
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Prominent metopic ri...	ORPHA:2729
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention...	ORPHA:92050
Goldberg-Shprintzen Syndrome	Prominent nasal bridge, Microcephaly, Hypoplasia of the maxilla, Bulbous nose, Wide nasal bridge	OMIM:609460
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Gastrostomy tube feeding in infancy, Dysphagia, Feeding...	ORPHA:72
Tsh-Secreting Pituitary Adenoma	Hypogonadotropic hypogonadism, Female hypogonadism, Supraventricular arrhythmia, Congestive heart...	ORPHA:91347
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Stt3B-Cdg	Respiratory distress, Feeding difficulties	ORPHA:370924
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage	ORPHA:33226
Acquired Hypertrichosis Lanuginosa	Macroglossia, Chronic diarrhea, Glossitis, Poor appetite	ORPHA:2221
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Scarring, Hiatus hernia, Brachycephaly, Atrophic scars, Short columella, Dista...	OMIM:601776
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Abnormal repetitive mannerisms, Ataxia	OMIM:619428
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Inguinal hernia, Craniosynostosis, Prominent nasolabial fold, Atrophic scars, ...	ORPHA:2953
Chromosome 16P13.3 Duplication Syndrome	Wide nose, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Micrognathia, Bulbous nose,...	OMIM:613458
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Feeding difficulties in...	ORPHA:308552
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Congestive heart failure	OMIM:619259
Infant Acute Respiratory Distress Syndrome	Pneumonia, Abnormal thorax morphology, Tachypnea, Nasal flaring, Hypoxemia, Respiratory failure	ORPHA:70587
Acrocephalopolydactylous Dysplasia	Omphalocele, Short nose, Oxycephaly, Craniosynostosis	OMIM:200995
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Pes planus, Cleft soft palate, Kyphoscoliosis, Feeding difficulties, Talipes equinovarus	OMIM:614557
Holocarboxylase Synthetase Deficiency	Nausea and vomiting, Tachypnea, Respiratory distress, Anorexia	ORPHA:79242
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets	OMIM:611590
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Aggressive behavior, Underfolded superior helices, Gait disturbance, Attention ...	OMIM:300352
3Mc Syndrome 2	Prominence of the premaxilla, Prominent nasal bridge, Craniosynostosis, Wide nasal bridge, Depres...	OMIM:265050
Aspartylglucosaminuria	Depressed nasal bridge, Anteverted nares, Microcephaly, Hypoplastic frontal sinuses, Brachycephal...	OMIM:208400
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Cleft upper lip, Malrotation of col...	OMIM:113620
Noonan Syndrome 3	Frontal bossing, Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosis, Scaphocep...	OMIM:609942
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Gastrostomy tube feeding in infancy, Carious teeth, Esophageal...	ORPHA:89842
Cadds	Short nose, Micrognathia	ORPHA:369942
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	OMIM:615895
Bile Acid Synthesis Defect, Congenital, 1	Fat malabsorption, Rickets, Steatorrhea	OMIM:607765
Cardiac Diverticulum	Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven...	ORPHA:1686
Malignant Peritoneal Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Ileus, Dyspnea, Pedal edema	ORPHA:168811
Scorpion Envenomation	Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca...	ORPHA:466677
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in upper limbs, Flexion contracture of finger, Tongue atrophy, Hand musc...	ORPHA:466768
Isolated Atp Synthase Deficiency	Respiratory distress	ORPHA:254913
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620242
Dietary Iron Overload Disease	Congestive heart failure	ORPHA:139507
Ctcf-Related Neurodevelopmental Disorder	Inguinal hernia, Anteverted nares, Small for gestational age, Craniosynostosis, Broad nasal tip, ...	ORPHA:363611
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Elbow flex...	OMIM:612394
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Death in infancy, Hypoventilation, Elbow contracture, Abdominal distention, Knee contracture, Fee...	OMIM:620275
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Episodic tachypnea, Pneumonia, Tachypnea, Feeding difficulties, Anteriorly ...	ORPHA:26793
14Q22Q23 Microdeletion Syndrome	Malar flattening, Underdeveloped nasal alae, Brachycephaly, Micrognathia	ORPHA:264200
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Feeding difficulties, Stridor, Gastroesophageal reflux, Poor suck	OMIM:615595
Tetraamelia Syndrome 1	Micrognathia, Cleft upper lip, Cleft palate, Hypoplastic pelvis, Tetraamelia, Anal atresia	OMIM:273395
Myotonic Dystrophy 1	Feeding difficulties in infancy, Respiratory distress, Dysphagia	OMIM:160900
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel...	ORPHA:324
Alkaptonuria	Arthropathy, Vertebral fusion, Kyphosis, Limited shoulder movement, Arthritis, Thickened Achilles...	OMIM:203500
Sepsis In Premature Infants	Abnormal mucociliary clearance, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Dys...	ORPHA:90051
Holoprosencephaly 13, X-Linked	Median cleft lip, Micrognathia, Submucous cleft hard palate, Vertebral clefting, Cleft palate, Ga...	OMIM:301043
Lujo Hemorrhagic Fever	Respiratory distress, Stiff neck, Crackles, Nonproductive cough, Fulminant hepatitis, Odynophagia...	ORPHA:319213
Niemann-Pick Disease, Type C2	Death in infancy, Ataxia, Death in childhood, Dysphagia, Abnormal repetitive mannerisms	OMIM:607625
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Congestive heart failure	OMIM:619355
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Microcephaly, Short nose	ORPHA:261236
Hardikar Syndrome	Cleft soft palate, Intestinal malrotation, Abdominal pain, Celiac disease, Hematemesis, Thoracolu...	OMIM:301068
Chromosome 15Q11.2 Deletion Syndrome	Ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors, Macrotia, Abnormal repeti...	OMIM:615656
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short nose, Microcephaly, Wide nasal bridge, Broad nasal tip	OMIM:614207
Coffin-Siris Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Microcephal...	ORPHA:1465
Cystinosis	Rickets, Malabsorption	ORPHA:213
Molybdenum Cofactor Deficiency, Complementation Group B	Frontal bossing, Short nose, Microcephaly, Macrocephaly	OMIM:252160
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar...	OMIM:154500
Plummer-Vinson Syndrome	Tongue atrophy, Poor appetite, Abdominal pain, Intra-oral hyperpigmentation, Cheilitis, Dysphagia...	ORPHA:54028
Carney Complex, Type 1	Congestive heart failure	OMIM:160980
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Submucous cleft hard palate, Bifid uvula	OMIM:617660
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Osteomyelitis, Gastritis, Pneumonia, Malabsorption, Ileus, Secretory diarrh...	ORPHA:37042
Pediatric Systemic Lupus Erythematosus	Abdominal pain, Abdominal distention, Diarrhea, Dyspnea, Oral ulcer, Arthritis, Vomiting, Pleural...	ORPHA:93552
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
Velocardiofacial Syndrome	Talipes, Abnormality of the hand, Velopharyngeal insufficiency, Submucous cleft hard palate, Pier...	OMIM:192430
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Respiratory distress, Autoamputation of digits, Reye syndrome-like episode...	OMIM:256810
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms	ORPHA:168782
Primrose Syndrome	Hip contracture, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the max...	OMIM:259050
Laubry-Pezzi Syndrome	Aortic regurgitation, Mildly reduced left ventricular ejection fraction, Congestive heart failure...	ORPHA:99094
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Anteverted nares, Choanal atresia, Congenital diaphragmatic hernia, Microcephaly, Camptodactyly, ...	OMIM:301044
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Long nose, Malar flattening, Short nose, Depressed nasal bridge	OMIM:618590
Pitt-Hopkins-Like Syndrome 2	Protruding tongue, Feeding difficulties, Wide mouth, Gastroesophageal reflux, Constipation, Scoli...	OMIM:614325
Molybdenum Cofactor Deficiency, Complementation Group A	Frontal bossing, Short nose, Microcephaly, Macrocephaly	OMIM:252150
Wiedemann-Steiner Syndrome	Microcephaly, Wide nasal bridge, Dolichocephaly, Short nose, Failure to thrive	ORPHA:319182
Noonan Syndrome With Multiple Lentigines	Brachycephaly, Wide nasal bridge	ORPHA:500
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Digeorge Syndrome	Micrognathia, High, narrow palate, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Cl...	OMIM:188400
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Aplasia of the nasal bone, Acrania, Micrognathia, Secondary microcephaly, Macrocepha...	OMIM:618820
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Tracheoesophageal fistula, Feeding difficulties, High palate, Talipes e...	OMIM:277380
Mucopolysaccharidosis, Type Ii	Congestive heart failure	OMIM:309900
Congenital Bile Acid Synthesis Defect Type 2	Fat malabsorption, Rickets, Steatorrhea	ORPHA:79303
Amoebiasis Due To Entamoeba Histolytica	Constrictive pericarditis, Congestive heart failure	ORPHA:67
Proximal 16P11.2 Microdeletion Syndrome	Sensorineural hearing impairment, Choreoathetosis, Attention deficit hyperactivity disorder, Cond...	ORPHA:261197
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Weiss-Kruszka Syndrome	Short nose, Anteverted nares	OMIM:618619
Donohue Syndrome	Abdominal distention, Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Large hands, Lo...	OMIM:246200
Leigh Syndrome	Congestive heart failure, Hypertrophic cardiomyopathy	ORPHA:506
Transketolase Deficiency	Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal...	ORPHA:488618
1P36 Deletion Syndrome	Frontal bossing, Depressed nasal bridge, Camptodactyly of finger, Microcephaly, Depressed nasal r...	ORPHA:1606
Megalocornea-Intellectual Disability Syndrome	Abnormal repetitive mannerisms, Sensorineural hearing impairment, Ataxia, Protruding ear	ORPHA:2479
Toxic Epidermal Necrolysis	Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Respiratory distress, Ab...	ORPHA:537
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Talipes equinovarus, Asp...	OMIM:618733
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Wide nose, Depressed nasal bridge, Microcephaly, Bulbous nose, Brachycephaly	OMIM:610442
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced...	ORPHA:980
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic val...	ORPHA:363618
Thauvin-Robinet-Faivre Syndrome	Pes planus, Bowing of the legs, Pedal edema, Macroglossia, Large hands, Thick vermilion border, L...	OMIM:617107
Difference Of Sex Development-Intellectual Disability Syndrome	Short nose	ORPHA:2983
Hydroxykynureninuria	Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms	ORPHA:79155
Beta-Thalassemia Intermedia	High-output congestive heart failure, Hypogonadism, Pulmonary arterial hypertension	ORPHA:231222
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Congestive heart failure, Arterial rupture	ORPHA:1900
Toriello-Lacassie-Droste Syndrome	Short nose, Failure to thrive, Anteverted nares, Macrocephaly	ORPHA:3339
Aorta Coarctation	Congestive heart failure, Hypertension, Pulmonary arterial hypertension	ORPHA:1457
Ablepharon Macrostomia Syndrome	Omphalocele, Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Underdeveloped na...	ORPHA:920
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia	ORPHA:238459
Bilateral Perisylvian Polymicrogyria	Apnea, Micrognathia, Pectus excavatum, Protruding tongue, Flexion contracture, Feeding difficulti...	ORPHA:98889
Autosomal Dominant Hypocalcemia	Congestive heart failure, Arrhythmia, Hypotension	ORPHA:428
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Prominent nasal tip, Short nose, Brachyturricephaly, Progressive flexion contractures	ORPHA:522077
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly...	ORPHA:160148
Distal Deletion 19P	Hypoplasia of the maxilla, Umbilical hernia, Vaginal hernia, Keloids	ORPHA:96129
Ovarian Fibroma	Odontogenic keratocysts of the jaw, Abdominal pain, Abdominal distention, Peritonitis, Pleural ef...	ORPHA:314473
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Wide nose, Anteverted...	ORPHA:93357
Common Variable Immunodeficiency	Failure to thrive in infancy, Brachycephaly	ORPHA:1572
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption	OMIM:606824
Cocaine Intoxication	Respiratory distress, Abdominal pain, Intestinal perforation, Wheezing, Tachypnea, Pneumothorax, ...	ORPHA:90068
Hereditary Mucoepithelial Dysplasia	Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue	ORPHA:1839
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Vomiting	OMIM:251000
Seckel Syndrome 10	Hypertension, Congestive heart failure	OMIM:617253
Incontinentia Pigmenti	Telangiectasia of the skin, Congestive heart failure, Retinal hemorrhage, Cerebral ischemia, Pulm...	ORPHA:464
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co...	OMIM:149730
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Icf Syndrome	Macroglossia, Malabsorption, Micrognathia, Protruding tongue	ORPHA:2268
Hypotonia, Ataxia, And Delayed Development Syndrome	Pain insensitivity, Broad-based gait, Ataxia, Posteriorly rotated ears, Overfolded helix, Dysmetr...	OMIM:617330
Generalized Pustular Psoriasis	Congestive heart failure	ORPHA:247353
Aceruloplasminemia	Congestive heart failure	ORPHA:48818
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai...	ORPHA:209905
Joubert Syndrome 6	Abnormal repetitive mannerisms, Ataxia	OMIM:610688
Giant Cell Arteritis	Epistaxis, Anorexia, Abdominal pain, Joint stiffness, Arthritis, Gastrointestinal infarctions, Co...	ORPHA:397
Nicolaides-Baraitser Syndrome	Narrow nasal bridge, Inguinal hernia, Anteverted nares, Microcephaly, Bulbous nose, Umbilical her...	OMIM:601358
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, D...	ORPHA:210122
Chime Syndrome	Supernumerary tooth, Depressed nasal ridge, Brachycephaly	ORPHA:3474
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi...	OMIM:615512
Erdheim-Chester Disease	Congestive heart failure, Hypogonadotropic hypogonadism	ORPHA:35687
Peters Plus Syndrome	Frontal bossing, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Micrognathia, Microce...	ORPHA:709
Jacobsen Syndrome	Frontal bossing, Inguinal hernia, Anteverted nares, Wide nasal bridge, Macrocephaly, Trigonocepha...	ORPHA:2308
Pmm2-Cdg	Mandibular prognathia, Thin upper lip vermilion, Osteopenia, Multiple joint contractures, Joint l...	ORPHA:79318
Mucopolysaccharidosis Type 1	Congestive heart failure, Hypertrophic cardiomyopathy	ORPHA:579
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormal repetitive mannerisms, Dysphagia	ORPHA:572013
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Colitis, Steatorrhea	ORPHA:309031
Wilson Disease	Acute hepatic failure, Osteomalacia, Abdominal distention, Osteoarthritis, Esophageal varix, Oste...	OMIM:277900
Eisenmenger Syndrome	Respiratory distress, Increased pulmonary vascular resistance, Abdominal distention, Wheezing, Cl...	ORPHA:97214
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Abnormal dental enamel morphology, Micrognathia, Dyspnea, Feeding difficult...	ORPHA:2556
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Inability to walk, Sensorineural hearing impairment, Bilateral sensorineural hear...	ORPHA:300570
Spinocerebellar Ataxia Type 36	Tongue atrophy, Tongue fasciculations, Bowel incontinence, Dysphagia	ORPHA:276198
Vici Syndrome	Dilated cardiomyopathy, Penile hypospadias, Congestive heart failure, Cardiomyopathy	OMIM:242840
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Feeding difficulties, Stomatitis, Pulmonary arterial hy...	ORPHA:79282
Combined Oxidative Phosphorylation Deficiency 53	Death in infancy, Osteomyelitis, Abdominal distention, Arthritis, Death in childhood, Septic arth...	OMIM:619423
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Flexion contracture	OMIM:618201
Chops Syndrome	Short nose, Anteverted nares, Obesity, Microcephaly	OMIM:616368
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, Sensorineural hearing impairment, Abnormal repetitive mannerisms, Self-injurio...	ORPHA:457351
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Congestive heart failure, Left ventricular outflow tract obstruction, Heart ...	ORPHA:99050
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Feeding difficultie...	OMIM:618426
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Single transverse palmar crease, High, narrow palate, Short philtrum, High palate, Vomiting, Join...	OMIM:619475
Listeriosis	Respiratory distress, Stiff neck, Miscarriage, Osteomyelitis, Pneumonia, Abdominal pain, Diarrhea...	ORPHA:533
Wolman Disease	Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f...	ORPHA:75233
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Macrocephaly at birth, Anteverted nares, Prominent occiput, Short nose, Flexio...	ORPHA:280633
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Trisomy 8P	Multiple joint contractures, Depressed nasal bridge, Anteverted nares, Microcephaly, Recurrent up...	ORPHA:264450
Aicardi Syndrome	Prominence of the premaxilla, Microcephaly, Hiatus hernia, Plagiocephaly, Multiple lipomas	ORPHA:50
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip...	OMIM:606721
Geleophysic Dysplasia 1	Congestive heart failure, Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis	OMIM:231050
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Prominent antihelix, Macrotia, Abnormal repetitive mannerisms, Inappropriate laughter	OMIM:615802
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala...	ORPHA:3241
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Fanconi-Bickel Syndrome	Osteomalacia, Poor appetite, Malabsorption, Abdominal distention, Rickets	OMIM:227810
Bazex-Dupre-Christol Syndrome	Joint hypermobility, Furrowed tongue	OMIM:301845
Inhalational Anthrax	Respiratory distress, Dyspnea, Vomiting	ORPHA:247257
Al Amyloidosis	Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Nonproductive cough, Dyspnea, X...	ORPHA:85443
Witteveen-Kolk Syndrome	Microretrognathia, Frontal bossing, Wide nose, Inguinal hernia, Anteverted nares, Prominent nasal...	OMIM:613406
Cryptococcosis	Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Peritonitis, Osteolysis, Vomiting, Cough...	ORPHA:1546
Plague	Respiratory distress, Chapped lip, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Abnormality o...	ORPHA:707
Acrodermatitis Enteropathica	Anorexia, Malabsorption, Poor appetite, Chronic diarrhea, Cheilitis, Abnormality of the tongue, F...	ORPHA:37
Malignant Hyperthermia Of Anesthesia	Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem...	ORPHA:423
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Inguinal hernia, Depressed nasal bridge, Congenital diaphragmatic h...	OMIM:614437
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion, Hepatic failure	ORPHA:292
Cutis Laxa, Autosomal Recessive, Type Iid	Bilateral cryptorchidism, Congestive heart failure, Micropenis, Right bundle branch block, Hypert...	OMIM:617403
2Q37 Microdeletion Syndrome	Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann...	ORPHA:1001
Isolated Arrhinia	Respiratory distress, Hypoplasia of the nasal bone, Absent nasal septal cartilage	ORPHA:1134
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations, Dysphagia	OMIM:614153
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set ears, Attention ...	OMIM:619575
Ogden Syndrome	Microretrognathia, Inguinal hernia, Depressed nasal bridge, Micrognathia, Underdeveloped nasal al...	OMIM:300855
Psoriasis 14, Pustular	Oligoarthritis, Polyarticular arthritis, Geographic tongue, Furrowed tongue	OMIM:614204
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Osteomyelitis, Duodenal ulcer, Gastritis, Anorexia, Abdominal pain, Osteomalacia...	OMIM:619381
Rodrigues Blindness	Tooth malposition, Nasal flaring	OMIM:268320
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Abnormal repetitive mannerisms, Macrotia, Ataxia, Dysphagia	ORPHA:496641
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Inguinal hernia, Choanal atresia, Broad nasal tip, Hypoplasia of...	OMIM:129900
Pitt-Hopkins Syndrome	Cupped ear, Gait ataxia, Self-injurious behavior, Thickened helices, Abnormal repetitive mannerisms	OMIM:610954
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis, Oral mucosal blisters, Feeding difficulties, Palmoplantar keratoderma, Smooth t...	ORPHA:79396
Hereditary Folate Malabsorption	Nausea and vomiting, Anorexia, Diarrhea, Cheilitis, Gastroesophageal reflux, Glossitis	ORPHA:90045
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	ORPHA:73224
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Epistaxis	OMIM:277450
Scimitar Syndrome	Heart block, Congestive heart failure, Left-to-right shunt, Pulmonary arterial hypertension	ORPHA:185
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms	OMIM:617682
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation	ORPHA:168829
Kawasaki Disease	Pericarditis, Myocarditis, Congestive heart failure, Vasculitis, Arrhythmia	ORPHA:2331
Nephrotic Syndrome, Type 1	Pyloric stenosis, Neonatal respiratory distress, Gastroesophageal reflux, Abdominal distention	OMIM:256300
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Abdominal pain, Hematemesis, Dyspnea, Diarrhea, Melen...	ORPHA:340
Holoprosencephaly 2	Aplasia of the premaxilla, Submucous cleft hard palate, Absent nasal septal cartilage, Bilateral ...	OMIM:157170
Phosphoribosylpyrophosphate Synthetase Superactivity	Small for gestational age, Short nose, Depressed nasal bridge, Convex nasal ridge	OMIM:300661
Acute Intermittent Porphyria	Nausea and vomiting, Proximal muscle weakness in upper limbs, Abdominal pain, Abdominal distentio...	ORPHA:79276
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy	ORPHA:103910
Developmental And Epileptic Encephalopathy 31B	Protruding tongue, Gingival overgrowth, Feeding difficulties, Constipation, Tube feeding	OMIM:620352
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Abnormality of primary teeth, Agenesis of pe...	OMIM:257980
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:98784
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormality of dental color, Cranial asymmetry	OMIM:163200
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist...	OMIM:270420
17Q11 Microdeletion Syndrome	Osteopenia, Bowing of the legs, Gastrointestinal stroma tumor, Kyphosis, Osteoporosis, Osteolysis...	ORPHA:97685
Distal Renal Tubular Acidosis	Osteomalacia, Poor appetite, Respiratory insufficiency due to muscle weakness, Diarrhea, Rickets,...	ORPHA:18
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit...	ORPHA:2250
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Feeding difficulties in infancy, Submucous cleft hard palate, Flexion contracture, Ankle clonus, ...	OMIM:618891
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to...	ORPHA:158668
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Elbow flexion contracture, Knee flexion contracture, Furrowed tongue, Microdontia, Pes cavus, Ora...	OMIM:148210
Dend Syndrome	Short nose, Anteverted nares	ORPHA:79134
Lathosterolosis	Anteverted nares, Microcephaly, Micrognathia, Wide nasal bridge, Short nose	OMIM:607330
Necrotizing Enterocolitis	Apnea, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting	ORPHA:391673
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Broad-based gait, Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior...	OMIM:614756
Methylmalonic Aciduria, Cblb Type	Feeding difficulties in infancy, Vomiting, Respiratory distress	OMIM:251110
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri...	OMIM:277320
Juvenile Sialidosis Type 2	Abnormal form of the vertebral bodies, Gingival overgrowth, Dysphagia, Protruding tongue	ORPHA:93399
Nocardiosis	Respiratory distress, Osteomyelitis, Pneumonia, Anorexia, Productive cough, Nonproductive cough, ...	ORPHA:31204
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture	OMIM:225400
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Omphalocele, Inguinal hernia, Anteverted nares, Camptodactyly of finger, C...	ORPHA:373
Liver Failure, Infantile, Transient	Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, V...	OMIM:613070
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Low-output congestive heart failure, Cardiomyopathy, Palpitations, Arrhythmia	ORPHA:565612
Lymphatic Malformation 7	Respiratory distress, Abdominal distention, Pleural effusion, Chylothorax	OMIM:617300
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Erythematous oral mucosa, Chronic diarrhea, Recurrent pneumonia, Furrowed tongue, Mele...	OMIM:158310
Menke-Hennekam Syndrome 1	Narrow nasal bridge, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Micrognathia, Und...	OMIM:618332
Peroxisome Biogenesis Disorder 4B	Short nose, Macrocephaly	OMIM:614863
Q Fever	Respiratory distress, Osteomyelitis, Pneumonia, Anorexia, Cough, Pleural effusion	ORPHA:781
Developmental And Epileptic Encephalopathy 2	Inability to walk, Abnormal repetitive mannerisms	OMIM:300672
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Erosion of oral mucosa, Foot joint contracture, Anal fissure, Oral mucosal blisters, ...	ORPHA:79408
Methylmalonic Acidemia With Homocystinuria Type Cblf	Stomatitis, Glossitis, Cleft palate, Feeding difficulties	ORPHA:79284
Methylmalonic Aciduria, Cbla Type	Feeding difficulties in infancy, Vomiting, Respiratory distress	OMIM:251100
Van Esch-O'Driscoll Syndrome	Short nose, Retrognathia, Depressed nasal bridge, Microcephaly	OMIM:301030
Oculogastrointestinal Muscular Dystrophy	Spontaneous esophageal perforation, Gastroparesis, Intestinal pseudo-obstruction, Malabsorption, ...	ORPHA:1876
Dominant Beta-Thalassemia	High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy	ORPHA:231226
Congenital Disorder Of Glycosylation, Type Iiw	Pes planus, Micrognathia, Pectus excavatum, Supernumerary tooth, Osteoporosis, Pectus carinatum, ...	OMIM:619525
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Omphalocele, Retrognathia, Brachycephaly, Micrognathia	OMIM:265380
Spinocerebellar Ataxia Type 7	Congestive heart failure	ORPHA:94147
Abetalipoproteinemia	Congestive heart failure	ORPHA:14
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Osteomalacia	OMIM:600740
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Intestinal malrotation, Feeding difficulties, Cervical ribs, Intermittent d...	ORPHA:2255
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive...	OMIM:187300
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Chronic constipation, Ankyloglossia, Scoliosis	OMIM:619352
Letterer-Siwe Disease	Stomatitis, Abdominal distention, Dyspnea	OMIM:246400
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Congestive heart failure	OMIM:617156
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P...	ORPHA:95455
Carney Complex	Ovarian dermoid cyst, Sertoli cell neoplasm, Testicular neoplasm, Precocious puberty, Congestive ...	ORPHA:1359
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Hypertension, Congestive heart failure	OMIM:181270
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Abdominal distention, Diarrhea, Dyspnea, Episodic abdominal pain, Bronchospasm, Nausea	ORPHA:100085
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain	ORPHA:83469
Hartnup Disease	Glossitis, Gingivitis, Malabsorption	ORPHA:2116
Congenital Tracheal Stenosis	Respiratory distress, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing, Tracheoe...	ORPHA:141127
Deeah Syndrome	Prominent nasal tip, Short nose, Retrognathia, Decreased body weight	OMIM:619004
Autosomal Recessive Cutis Laxa Type 1	Congestive heart failure, Abnormal cardiac ventricular function, Supravalvular aortic stenosis	ORPHA:90349
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis, Pulmonary arteri...	ORPHA:2396
Multiple Endocrine Neoplasia Type 2	Joint laxity, Aganglionic megacolon, Kyphoscoliosis, Hyperlordosis, Abdominal distention, Abnorma...	ORPHA:653
Primary Sclerosing Cholangitis	Portal hypertension, Congestive heart failure, Palmar telangiectasia, Spider hemangioma	ORPHA:171
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Brachycephaly, Cachexia	ORPHA:2072
Peritoneal Cystic Mesothelioma	Abdominal distention, Peritonitis, Constipation, Abdominal pain	ORPHA:168816
Imerslund-Gräsbeck Syndrome	Angular cheilitis, Poor appetite, Constipation, Vomiting, Glossitis	ORPHA:35858
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Pectus excavatum, Pyloric stenosis, Abdominal d...	OMIM:235730
Castleman Disease	Nausea and vomiting, Myelofibrosis, Intestinal obstruction, Abdominal pain, Abdominal distention,...	ORPHA:160
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Thyroid Hypoplasia	Macroglossia, Constipation, Abdominal distention	ORPHA:95720
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Protruding ear, Low-set ears, Dysphagia, Abnormal repetitive mannerisms	ORPHA:447997
Microsporidiosis	Sinusitis, Osteomyelitis, Pneumonia, Anorexia, Abdominal pain, Peritonitis, Chronic diarrhea, Rhi...	ORPHA:2552
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Congestive heart failure, Pulmonary arterial hypertension, Renovascular hypertension	ORPHA:391487
Williams Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Sudden cardiac death, Myocardial infarction, ...	ORPHA:904
Aicardi Syndrome	Prominence of the premaxilla, Anteverted nares, Microcephaly, Hiatus hernia, Lipoma	OMIM:304050
Ovarian Fibrothecoma	Abdominal distention, Peritonitis, Pleural effusion, Abdominal pain	ORPHA:314478
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Syndactyly, Postaxial polydactyly, Abdominal distention, Asthma, Broad first metatars...	OMIM:619534
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nausea and vomiting, Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Pte...	ORPHA:79403
Floating-Harbor Syndrome	Narrow nasal bridge, Small for gestational age, Broad nasal tip, Hypoplasia of the maxilla, Cario...	ORPHA:2044
Peripheral Primitive Neuroectodermal Tumor	Nausea and vomiting, Abnormal thoracic spine morphology, Anorexia, Abdominal distention, Episodic...	ORPHA:370348
Melkersson-Rosenthal Syndrome	Macroglossia, Cheilitis, Furrowed tongue	ORPHA:2483
Beta-Thalassemia Major	High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy	ORPHA:231214
Toriello-Carey Syndrome	Short nose, Microcephaly, Micrognathia	ORPHA:3338
Peters-Plus Syndrome	Frontal bossing, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Agenesi...	OMIM:261540
Chylomicron Retention Disease	Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption	ORPHA:71
Biotinidase Deficiency	Respiratory distress, Apnea, Hyperventilation	ORPHA:79241
Marfan Syndrome	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Tricuspid regurgitation	OMIM:154700
X-Linked Dystonia-Parkinsonism	Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue	ORPHA:53351
Neutral Lipid Storage Myopathy	Cardiomyopathy, Congestive heart failure	ORPHA:98908
Currarino Syndrome	Absence of the sacrum, Anal stenosis, Hemisacrum, Perianal abscess, Gastrointestinal obstruction,...	OMIM:176450
Dyskeratosis Congenita	Hypoplasia of the maxilla, Taurodontia, Carious teeth	ORPHA:1775
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Dyspnea, Episodic respiratory distress, Dysphagia, Hepatic failure, Episodic vomiting, Hyp...	ORPHA:255210
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Choanal atresia, Hypoplasia of the maxilla, Carious teeth, Depre...	OMIM:604292
Glucagonoma	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97280
Gitelman Syndrome	Nausea and vomiting, Respiratory distress, Abdominal pain, Diarrhea, Gout, Constipation, Chondroc...	ORPHA:358
Inflammatory Pseudotumor Of The Liver	Abdominal distention, Vomiting, Nausea, Abdominal pain	ORPHA:90003
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di...	OMIM:155310
Friedreich Ataxia 2	Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure	OMIM:601992
Lysosomal Acid Lipase Deficiency	Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh...	ORPHA:275761
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Abdominal distention	OMIM:618528
Williams-Beuren Syndrome	Inguinal hernia, Anteverted nares, Depressed nasal bridge, Failure to thrive in infancy, Broad na...	OMIM:194050
Gonadoblastoma	Abdominal distention, Abdominal pain	ORPHA:206484
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Low-set ears, Overfolded helix, Abnormal repetitive mannerisms, Difficulty walking	OMIM:618653
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Congestive heart failure, Mitral regurgitation	ORPHA:90348
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Protruding ear, Gait disturbance, Macrotia, Abnormal repetitive mannerisms	ORPHA:464306
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting	ORPHA:35710
X-Linked Acrogigantism	Diastema, Abdominal distention, Large hands, Long foot	ORPHA:300373
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormal repetitive mannerisms, Gait disturbance, Attention deficit hyperactivity disorder, Protr...	ORPHA:464311
Kasabach-Merritt Syndrome	Respiratory distress, Abdominal distention, Hypopnea, Abdominal pain	ORPHA:2330
Alström Syndrome	Respiratory distress, Pes planus, Abnormality of dental color, Thoracic scoliosis, Kyphosis, Shor...	ORPHA:64
Cirrhosis, Familial	Abdominal distention, Fulminant hepatitis, Esophageal varix, Pulmonary arterial hypertension	OMIM:215600
African Trypanosomiasis	Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Second degree atrioventricular...	ORPHA:3385
Mucopolysaccharidosis Type 2	Otosclerosis, Hyperactivity, Impulsivity, Aggressive behavior, Sensorineural hearing impairment, ...	ORPHA:580
Singleton-Merten Syndrome 1	Hypoplasia of the maxilla, Carious teeth, Eruption failure, Decreased body weight, Hypoplasia of ...	OMIM:182250
Marfan Syndrome	Congestive heart failure	ORPHA:558
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Anteverted nares, Broad nasal tip, Carious teeth, Long nose, Bulbous nose, Microcephaly, Wide nas...	OMIM:619522
Anterior Cutaneous Nerve Entrapment Syndrome	Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract...	ORPHA:51890
Colonic Atresia	Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis	ORPHA:1198
Microvillus Inclusion Disease	Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea	ORPHA:2290
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Recurrent otitis media, Abnormal repetitive mannerisms, Posteriorly rotated ears, Aggressive beha...	OMIM:301066
Liver Disease, Severe Congenital	Joint laxity, Chronic gastritis, Pneumonia, Micrognathia, Abdominal distention, Diarrhea, Malnutr...	OMIM:619991
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Low-set, posteriorly rotated ears, Self-injurious behavior, Thin ear helix, Bilateral sensorineur...	ORPHA:468631
Primary Biliary Cholangitis	Celiac disease, Abdominal distention, Osteoporosis, Gastrointestinal inflammation, Hepatic failure	ORPHA:186
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Tapered finger	OMIM:618367
Infantile Nephropathic Cystinosis	Constipation, Vomiting, Rickets	ORPHA:411629
Polyembryoma	Abdominal distention, Abdominal pain	ORPHA:180229
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Abdominal distention, Hypoperistalsis	OMIM:619365
Agel Amyloidosis	Tongue atrophy, Xerostomia	ORPHA:85448
Parkes Weber Syndrome	Bounding pulse, High-output congestive heart failure, Subarachnoid hemorrhage	ORPHA:90307
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Respiratory acidosis, Narrow chest, Narrow m...	OMIM:614748
Hereditary Fructose Intolerance	Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ...	ORPHA:469
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Abdominal pain, Abdominal distention, Pleural effusion, Nausea	ORPHA:64739
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Nausea and vomiting, Death in infancy, Intestinal malrotation, Hypoperistalsis, Abdominal distent...	ORPHA:2241
Epidermolysis Bullosa Simplex With Pyloric Atresia	Oral mucosal blisters, Abdominal distention, Flexion contracture, Congenital pyloric atresia, Vom...	ORPHA:158684
Familial Hypocalciuric Hypercalcemia	Nausea and vomiting, Osteomalacia, Peptic ulcer, Episodic abdominal pain, Chondrocalcinosis	ORPHA:405
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
Hereditary Spherocytosis	Abdominal distention, Gout, Abdominal pain	ORPHA:822
Pallister-Killian Syndrome	Delayed eruption of teeth, Frontal bossing, Omphalocele, Inguinal hernia, Anteverted nares, Depre...	OMIM:601803
Geleophysic Dysplasia 2	Short nose	OMIM:614185
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Palma...	OMIM:615726
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla, Wide nasal bridge	OMIM:180500
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he...	ORPHA:353281
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death, Abdominal distention, Microcolon	OMIM:619362
Hypothyroidism, Congenital, Nongoitrous, 2	Feeding difficulties in infancy, Abdominal distention, Stridor, Macroglossia, Constipation	OMIM:218700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Ileal atresia, Abdominal distention, Peritoni...	OMIM:619351
Mirizzi Syndrome	Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Vomiting, Nausea	ORPHA:521219
Nmda Receptor Encephalitis	Hypersexuality, Chorea, Choreoathetosis, Agitation, Abnormal repetitive mannerisms	ORPHA:217253
Metachromatic Leukodystrophy, Late Infantile Form	Feeding difficulties in infancy, Abdominal distention	ORPHA:309256
Thyroid Ectopia	Macroglossia, Constipation, Abdominal distention	ORPHA:95712
Leptospirosis	Nausea and vomiting, Respiratory distress, Anorexia, Abdominal pain, Diarrhea, Cough, Pleural eff...	ORPHA:509
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Abnormal repetitive mannerisms, Hearing impairment	ORPHA:508498
Tuberous Sclerosis Complex	Respiratory distress, Respiratory failure	ORPHA:805
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms	OMIM:616682
Metachromatic Leukodystrophy, Adult Form	Abdominal distention, Bowel incontinence	ORPHA:309271
Metachromatic Leukodystrophy, Juvenile Form	Abdominal distention	ORPHA:309263
Norrie Disease	Sensorineural hearing impairment, Protruding ear, Abnormal cochlea morphology, Self-injurious beh...	ORPHA:649
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he...	ORPHA:353277
Leprechaunism	Abdominal distention, Rectal prolapse, Megarectum, Large hands, Thick vermilion border, Long foot	ORPHA:508
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Secretory diarrhea	OMIM:214700
Combined Immunodeficiency-Enteropathy Spectrum	Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Bloody diarrhea, Rectal abs...	ORPHA:436252
Choreoacanthocytosis	Temporomandibular joint crepitus, Equinovarus deformity, Protruding tongue, Peroneal muscle atrop...	ORPHA:2388
Gallbladder Neuroendocrine Tumor	Abdominal distention, Nausea, Anorexia, Episodic abdominal pain	ORPHA:100086
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn...	ORPHA:99125
Pancreatoblastoma	Abdominal distention, Diarrhea, Vomiting, Abdominal pain	ORPHA:677
Penile Agenesis	Short nose, Depressed nasal bridge	ORPHA:49
Craniofacial Microsomia 1	Hypoplasia of the maxilla, Malar flattening, Maxillozygomatic hypoplasia, Micrognathia	OMIM:164210
Atresia Of Urethra	Abdominal distention	ORPHA:105

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 Sox9

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 Sox9.

No publications found that use IMPC mice or data for Sox9.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Sox9^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

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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