Gene: Mia3 MGI:2443183

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

MIA SH3 domain ER export factor 3

Synonyms:

B230399H06Rik, LOC385255, 9130229H14Rik, Tango, A930039G15Rik

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 Mia3 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 Mia3 (1 diseases)
Human diseases predicted to be associated with Mia3 (891 diseases)

The table below shows human diseases associated to Mia3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Odontochondrodysplasia 2 With Hearing Loss And Diabetes		Osteopenia, Short toe, Pruritus, Prominent nasal bridge, Clinodactyly of the 5th finger, Short ph...	OMIM:619269

The table below shows human diseases predicted to be associated to Mia3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Osseous Heteroplasia, Progressive	Ankylosis, Ectopic ossification in muscle tissue, Limb undergrowth	OMIM:166350
Spondylometaphyseal Dysplasia, X-Linked	Wide nasal bridge, Depressed nasal bridge, Short finger, Hyperextensibility of the finger joints,...	OMIM:313420
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Death in adolescence, Flexion contracture, Respiratory failure, Respiratory insufficiency due to ...	OMIM:300717
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Depressed nasal bridge, Toe syndactyly, Elbow flexion contracture, Anteverted nares, ...	OMIM:616809
Lethal Osteosclerotic Bone Dysplasia	Depressed nasal ridge, Anteverted nares, Micrognathia, Intrauterine growth retardation, Mandibula...	ORPHA:1832
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Death in childhood, Joint contracture, Respiratory insufficiency	OMIM:616081
Metatropic Dysplasia	Hypoplasia of the odontoid process, Genu valgum, Dumbbell-shaped metaphyses, Respiratory insuffic...	OMIM:156530
Nemaline Myopathy 8	Polyhydramnios, Flexion contracture, Respiratory failure, Death in infancy	OMIM:615348
Congenital Myopathy 14	Elbow flexion contracture, Knee flexion contracture, Hip contracture, Death in infancy, Respirato...	OMIM:618414
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Intrauterine growth retardation, Abnormal metaphysis morphology, Abnormal metacarpal morphology, ...	ORPHA:2370
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Short nose, Wide nose	OMIM:125700
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Fetal ascites, Micromelia, Flared metaphysis, Stillbirth, Micrognathia, S...	OMIM:215045
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ...	ORPHA:1423
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Limb undergrowth, Abnormal limb bone morphology, Polyhydramnio...	ORPHA:2204
Greenberg Dysplasia	Rhizomelia, Abnormal pelvis bone ossification, Micromelia, Lymphedema, Micrognathia, Decreased sk...	ORPHA:1426
Pontocerebellar Hypoplasia, Type 4	Polyhydramnios, Congenital contracture, Respiratory failure, Death in infancy	OMIM:225753
Congenital Arthrogryposis With Anterior Horn Cell Disease	Hand clenching, Micrognathia, Neonatal death, Talipes equinovarus, Respiratory insufficiency due ...	OMIM:611890
Fibrodysplasia Ossificans Progressiva	Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Respiratory insufficie...	OMIM:135100
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Depressed nasal ridge, Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short...	OMIM:118651
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Hypoplasia of the capital femoral epiphysis, Respiratory failure, Joint hypermobility	OMIM:600561
Achondrogenesis	Micromelia, Abnormal enchondral ossification, Anteverted nares, Micrognathia, Polyhydramnios, Hyd...	ORPHA:932
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Neonatal respiratory distress, Coarse metaphyseal trabecularization, Ante...	OMIM:618961
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Poorly ossif...	ORPHA:1263
Atelosteogenesis, Type Ii	Depressed nasal bridge, Dumbbell-shaped femur, Sandal gap, Micromelia, Respiratory insufficiency,...	OMIM:256050
Achondrogenesis Type 1A	Micromelia, Abnormal enchondral ossification, Anteverted nares, Micrognathia, Hydrops fetalis, Sh...	ORPHA:93299
Spinal Muscular Atrophy, Type I	Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:253300
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Respiratory insufficiency, Respiratory failure, Limited knee flexion/extension, Limited elbow fle...	ORPHA:266
Hereditary Butyrylcholinesterase Deficiency	Myocardial infarction, Congestive heart failure, Respiratory failure, Respiratory failure requiri...	ORPHA:132
Achondrogenesis, Type Ib	Micromelia, Respiratory insufficiency, Absent or minimally ossified vertebral bodies, Short ribs,...	OMIM:600972
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Hand clenching, Subdural hemorrhage, Overlapping fingers, Micrognathia, Multiple joint contractur...	OMIM:618291
Achondrogenesis Type 1B	Micromelia, Abnormal enchondral ossification, Anteverted nares, Micrognathia, Talipes equinovarus...	ORPHA:93298
17Q21.31 Microduplication Syndrome	Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Clinodactyly of the 5th finger, Short...	ORPHA:217340
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:611722
Intellectual Developmental Disorder, X-Linked 91	Short 5th finger, Small hand, Clinodactyly, Short foot, Short nose	OMIM:300577
Hyperekplexia 4	Talipes equinovarus, Distal arthrogryposis, Adducted thumb, Camptodactyly, Flexion contracture, R...	OMIM:618011
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal fingertip morphology, Abnormal trabecular bone morpholo...	ORPHA:79106
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Advanced ossific...	OMIM:251450
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Decreased fibular diameter, Micrognathia, Decreased skull ossification, Multiple prenatal fractur...	OMIM:616897
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o...	ORPHA:75508
Achondrogenesis Type 2	Cardiorespiratory arrest, Micromelia, Absent vertebral body mineralization, Delayed pubic bone os...	ORPHA:93296
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Rhizomelia, Micromelia, Short nose, Anteverted nares, Micrognathia, Abnor...	ORPHA:93329
Combined Oxidative Phosphorylation Deficiency 28	Polyhydramnios, Respiratory failure, Congestive heart failure	OMIM:616794
Ollier Disease	Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromatosis, Abnormal m...	ORPHA:296
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Dista...	OMIM:300863
Arthrogryposis Multiplex Congenita 6	Death in childhood, Death in infancy, Neonatal death, Adducted thumb, Polyhydramnios, Arthrogrypo...	OMIM:619334
Acromicric Dysplasia	Small hand, Fifth metacarpal with ulnar notch, Bulbous nose, Joint stiffness, Abnormal femur morp...	ORPHA:969
Chondrodysplasia With Joint Dislocations, Gpapp Type	Wide nasal bridge, Coronal craniosynostosis, Short toe, Genu valgum, Micrognathia, Limited elbow ...	OMIM:614078
Ring Chromosome 8 Syndrome	Polyhydramnios, Anteverted nares, Deviation of finger, Short nose	ORPHA:1450
Congenital Myopathy 10A, Severe Variant	Talipes equinovarus, Respiratory failure, Respiratory insufficiency, Camptodactyly of finger	OMIM:614399
Vitamin K Antagonist Embryofetopathy	Short distal phalanx of finger, Choanal atresia, Depressed nasal bridge, Respiratory insufficienc...	ORPHA:1914
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Intrauterine growth retardation, Micrognathia, Oligohydramnios, Br...	ORPHA:2145
Ullrich Congenital Muscular Dystrophy	Slender finger, Elbow flexion contracture, Wrist hypermobility, Micrognathia, Increased laxity of...	ORPHA:75840
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Hypoplastic nasal bridge, Abnormal femoral met...	OMIM:200600
Snakebite Envenomation	Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Angioedema, Cere...	ORPHA:449285
Glutamine Deficiency, Congenital	Wide nasal bridge, Depressed nasal bridge, Neonatal respiratory distress, Micromelia, Anteverted ...	OMIM:610015
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Ceroid Lipofuscinosis, Neuronal, 10	Wide nasal bridge, Respiratory insufficiency, Neonatal death, Split hand, Respiratory failure	OMIM:610127
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Multiple prenatal fractures, Polyhydramnios, Flexion contracture, ...	OMIM:616867
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Anteverted nares, Micrognathia, Short nose	ORPHA:2015
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Genu valgum, Fibular bowing...	OMIM:600785
Neuropathy, Congenital Hypomyelinating, 3	Hand clenching, Respiratory insufficiency, Micrognathia, Polyhydramnios, Neonatal death, 2-3 toe ...	OMIM:618186
Terminal Osseous Dysplasia	Toe clinodactyly, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg shortening, Dep...	OMIM:300244
Intermediate Nemaline Myopathy	Multiple prenatal fractures, Polyhydramnios, Flexion contracture, Arthrogryposis multiplex congen...	ORPHA:171433
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Genu varum, Femoral bowing, Metaphyseal irregularity, Ulnar meta...	ORPHA:174
Diastrophic Dysplasia	Depressed nasal bridge, Ulnar deviation of finger, Hypoplastic cervical vertebrae, Micromelia, Sh...	ORPHA:628
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Slender finger, Depressed nasal bridge, Hemiatrophy of upper limb, Anteverted nares, Micrognathia...	ORPHA:163649
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Camptodactyly of finger, Hypertrophic cardiomyopathy, Congestive heart failure, Intrauterine grow...	ORPHA:1194
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Joint hypermobility, Convex nasal ridge, Short nose	ORPHA:1695
Immunodeficiency 95	Recurrent viral upper respiratory tract infections, Respiratory failure	OMIM:619773
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Depressed nasal bridge, Metaphyseal cupping, Micromelia, Wide di...	OMIM:613320
Legg-Calvé-Perthes Disease	Cartilage destruction	ORPHA:2380
Moderate Hemophilia A	Gingival bleeding, Gastrointestinal hemorrhage, Limitation of joint mobility, Subdural hemorrhage...	ORPHA:169805
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Wide nasal bridge, Choanal atresia, Joint hypermobility, Arachnodactyly, Missing ribs, Polyhydram...	ORPHA:2759
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Respiratory insufficiency, Neonatal death, Pulmonary insufficiency, Abnormal cart...	OMIM:245650
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory insufficiency, Intrauterine growth retardation, Polyhydramnios, Arthrogryposis multip...	OMIM:615330
Metatropic Dysplasia	Depressed nasal bridge, Hypoplastic cervical vertebrae, Coarse metaphyseal trabecularization, Abn...	ORPHA:2635
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Respiratory insufficiency	OMIM:618328
Osteogenesis Imperfecta, Type Ii	Respiratory insufficiency, Congestive heart failure, Tibial bowing, Nonimmune hydrops fetalis, Li...	OMIM:166210
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob...	ORPHA:93284
Geleophysic Dysplasia 3	Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Anteverted nares, Mitral regurgitation, ...	OMIM:617809
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:613869
Acrodysostosis	Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor...	ORPHA:950
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Respiratory failure, Death in infancy, Bradycardia	OMIM:616277
Developmental And Epileptic Encephalopathy 73	Flexion contracture, Narrow nasal bridge, Short nose	OMIM:618379
Amyotrophic Lateral Sclerosis 28	Respiratory failure	OMIM:620452
Ophthalmomandibulomelic Dysplasia	Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Lateral humeral condyle ...	ORPHA:2741
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory failure, Multiple joint contractures, Respiratory insufficiency	ORPHA:370968
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm, Mesomelic arm...	OMIM:249710
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Combined Oxidative Phosphorylation Deficiency 51	Intrauterine growth retardation, Respiratory failure, Neonatal respiratory distress	OMIM:619057
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna...	OMIM:215140
Diaphanospondylodysostosis	Depressed nasal ridge, Depressed nasal bridge, Tracheomalacia, Respiratory insufficiency, Intraut...	OMIM:608022
Odontochondrodysplasia	Depressed nasal bridge, Micromelia, Death in infancy, Joint hypermobility, Bowing of the long bon...	ORPHA:166272
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Convex nasal ridge, Micrognathia, Brachydactyly, Mesomelia	ORPHA:1277
Weiss-Kruszka Syndrome	Clinodactyly of the 5th finger, Prominent nasal tip, Proximal placement of thumb, Short nose	ORPHA:502430
Schneckenbecken Dysplasia	Hypoplastic scapulae, Stillbirth, Polyhydramnios, Short ribs, Nonimmune hydrops fetalis, Limb und...	OMIM:269250
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Fragmentation of the metacarpal epiphyses, Abnormality of the epiphyses of the feet, Genu valgum,...	ORPHA:166002
Peho-Like Syndrome	Edema, Short nose, Tapered finger	OMIM:617507
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the radius, Micromelia, Short 5th metacarpal, Hemiatrophy, Joint stiffness,...	ORPHA:1350
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Micrognathia, Polyhydramnios, Arthrogryposis multiplex congenita, Respira...	OMIM:607598
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short distal phalanx of finger, Epistaxis, Abnormal bleeding, Bruising susceptibility, Epiphyseal...	OMIM:277450
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Camptodactyly of finger, Intrauterine growth retardation, Micrognathia, Death in infancy, Short nose	ORPHA:1495
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal...	OMIM:200700
Peripartum Cardiomyopathy	Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Tachycardia, Pe...	ORPHA:563
Atelosteogenesis, Type I	Radial bowing, Fibular aplasia, Micrognathia, Neonatal death, Talipes equinovarus, Aplasia/Hypopl...	OMIM:108720
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Depressed nasal bridge, Rhizomelia, Metaphyseal cupping, Severe limb shortening, Radial bowing, M...	OMIM:151210
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Respiratory insufficiency, Intrauterine growth retardation, Death ...	OMIM:245400
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Micromelia, Limitation of joint mobility, Upper limb undergrowth, Gen...	ORPHA:93351
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Short distal phalanx of finger, Anosmia, Epiphyseal stippling, Short nasa...	OMIM:302950
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Depressed nasal bridge, Osteopenia, Intrauterine growth retardation, Metaphyseal dysplasia, Crani...	OMIM:614732
Acrocephalopolydactyly	Depressed nasal ridge, Limb undergrowth, Brachydactyly, Short nose	ORPHA:221054
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Limitation of joint mobility, Epiphyseal stippling, Limb undergrowth, Spina bifida oc...	ORPHA:177
Vacterl Association With Hydrocephalus	Absent thumb, Respiratory insufficiency, Radial club hand, Stillbirth, Respiratory failure	OMIM:276950
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Anteverted nares, Short nose	ORPHA:1355
Rhiny	Anteverted nares, Short nose	OMIM:180360
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Depressed nasal bridge, Neonatal respiratory distress, Microretrognathia, Clinodactyly of the 2nd...	OMIM:618870
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Short toe, Sandal gap, Short 5th metacarpal, 11 pairs of ribs, Clinodactyly of the 5t...	OMIM:617877
Edinburgh Malformation Syndrome	Slender finger, Ulnar deviation of finger, Choanal atresia, Respiratory insufficiency, Joint stif...	ORPHA:1895
Congenital Disorder Of Glycosylation, Type Iu	Neonatal respiratory distress, Congenital contracture, Micrognathia, Death in infancy, Short nose	OMIM:615042
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio...	ORPHA:93323
Congenital Neuronal Ceroid Lipofuscinosis	Wide nasal bridge, Neonatal respiratory distress, Respiratory failure, Split hand	ORPHA:168486
Otospondylomegaepiphyseal Dysplasia	Depressed nasal bridge, Dumbbell-shaped femur, Sandal gap, Limitation of joint mobility, Flared f...	ORPHA:1427
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Toe syndactyly, Anteverted nares, Micrognathia, Short columella, Bowing o...	ORPHA:171839
Sandestig-Stefanova Syndrome	Wide nasal bridge, Clinodactyly, Intrauterine growth retardation, Convex nasal ridge, Camptodacty...	OMIM:618804
Renal Hypodysplasia/Aplasia 4	Respiratory failure	OMIM:619887
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flared nostrils, Anteverted nares, Respiratory failure, Wide nasal bridge	OMIM:312170
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Ventilator dependence with inability to wean, Respiratory failure, Respiratory insufficiency due ...	ORPHA:254875
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Anteverted nares, Intrauterine growth retardation, Brachydactyly, Advance...	OMIM:614613
Hepatic Veno-Occlusive Disease	Ascites, Respiratory failure	ORPHA:890
Atelosteogenesis Type Ii	Wide nasal base, Hypoplastic cervical vertebrae, Genu valgum, Micrognathia, Broad phalanx, Bilate...	ORPHA:56304
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:90117
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory failure, Respiratory insufficiency due to muscle weakness	ORPHA:2590
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Achilles tendon contracture	OMIM:604801
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Brachydactyly, Postaxial hand polydactyly, Short foot, Short metacarpal, Mesomelia	OMIM:611263
Peroxisome Biogenesis Disorder 4A (Zellweger)	Depressed nasal bridge, Epiphyseal stippling, Respiratory failure, Death in infancy	OMIM:614862
14Q11.2 Microdeletion Syndrome	Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Micrognathia, Short nose	ORPHA:261120
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Clinodactyly, Anteverted nares, Micrognathia, Unilambdoid synostosis, Short nose	OMIM:618577
Bone Dysplasia, Lethal Holmgren Type	Depressed nasal ridge, Rhizomelia, Micromelia, Abnormal diaphysis morphology, Respiratory insuffi...	ORPHA:1842
Pierpont Syndrome	Broad nasal tip, Short toe, Prominent fingertip pads, Short finger, Short nose, Short foot, Short...	OMIM:602342
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Rhizomelic Dysplasia, Patterson-Lowry Type	Depressed nasal ridge, Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Shor...	ORPHA:2831
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Ruvalcaba Syndrome	Small hand, Micromelia, Underdeveloped nasal alae, Narrow nose, Limited elbow extension, Short fo...	OMIM:180870
Pde4D Haploinsufficiency Syndrome	Depressed nasal bridge, Hypotension, Short toe, Broad hallux, Upper limb undergrowth, Short middl...	ORPHA:439822
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short distal phalanx of finger, Short columella, Short nose	OMIM:155050
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Facial edema, Short distal phalanx of finger, Intrauterine growth retardation, Epiphyseal stippli...	ORPHA:86822
Chung-Jansen Syndrome	Anteverted nares, Micrognathia, Joint hypermobility, Clinodactyly of the 5th finger, Short nose, ...	OMIM:617991
Adenylosuccinate Lyase Deficiency	Anteverted nares, Short nose	ORPHA:46
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Depressed nasal bridge, Rhizomelia, Congestive heart failure, Femoral bowing, Tibial bowing, Neon...	OMIM:616482
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Depressed nasal bridge, Micromelia, Short ribs, Postaxial polydactyly, Brachydactyly, Hypoplasia ...	OMIM:617895
Foxp1 Syndrome	Recurrent upper respiratory tract infections, Broad nasal tip, Clinodactyly, Prominent fingertip ...	ORPHA:391372
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Tapered toe, Neonatal respiratory distress, Dilated cardiomyopathy, Nasal congestion, Elbow flexi...	OMIM:608836
Hypophosphatasia, Infantile	Unossified vertebral bodies, Metaphyseal cupping, Micromelia, Increased susceptibility to fractur...	OMIM:241500
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Bulbous nose, Anteverted nares, Flexion contracture, Respiratory failure, Tapered finger	OMIM:616505
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure, Wide anterior fontanel	OMIM:618240
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Wide nasal bridge, Clinodactyly, Bulbous nose, Anteverted nares, Micrognathia, Intrauterine growt...	OMIM:613604
Thanatophoric Dysplasia	Depressed nasal bridge, Micromelia, Respiratory insufficiency, Joint stiffness, Increased nuchal ...	ORPHA:2655
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Brachydactyly, Cone-shaped epiphyses of the phalange...	OMIM:618618
Muscular Dystrophy, Duchenne Type	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Hamstring contrac...	OMIM:310200
Stuve-Wiedemann Syndrome 1	Wide nasal base, Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Di...	OMIM:601559
Baker-Gordon Syndrome	Prominent nasal tip, Short nose, Joint hypermobility	OMIM:618218
Periventricular Nodular Heterotopia 7	Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2...	OMIM:617201
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth retardation, Micrognathi...	OMIM:251230
Combined Oxidative Phosphorylation Deficiency 52	Hypertrophic cardiomyopathy, Respiratory failure, Death in infancy	OMIM:619386
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Depressed nasal ridge, Ulnar deviation of finger, Aplasia/Hypoplasia invo...	ORPHA:1529
Opsismodysplasia	Depressed nasal bridge, Broad thumb, Respiratory insufficiency, Joint stiffness, Hypoplastic vert...	ORPHA:2746
Severe Congenital Nemaline Myopathy	Edema of the dorsum of hands, Adducted thumb, Multiple prenatal fractures, Polyhydramnios, Flexio...	ORPHA:171430
Mesomelia-Synostoses Syndrome	Synostosis of joints, Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal...	ORPHA:2496
Glycine Encephalopathy With Normal Serum Glycine	Hand clenching, Depressed nasal bridge, Elbow flexion contracture, Overlapping toe, Anteverted na...	OMIM:617301
Fibrochondrogenesis 1	Depressed nasal bridge, Hypoplastic scapulae, Small hand, Rhizomelia, Joint contracture of the ha...	OMIM:228520
Miller-Dieker Syndrome	Polyhydramnios, Clinodactyly of the 5th finger, Anteverted nares, Short nose	ORPHA:531
Maxillonasal Dysplasia	Depressed nasal bridge, Short distal phalanx of finger, Depressed nasal ridge, Short columella, A...	ORPHA:1248
Potocki-Shaffer Syndrome	Wide nasal bridge, Underdeveloped nasal alae, 2-5 finger cutaneous syndactyly, Brachydactyly, Sho...	OMIM:601224
Achondroplasia	Depressed nasal bridge, Rhizomelia, Hip joint hypermobility, Anteverted nares, Trident hand, Limi...	ORPHA:15
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi...	OMIM:311300
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Depressed nasal bridge,...	ORPHA:50945
Pfeiffer Syndrome Type 1	Depressed nasal bridge, Toe syndactyly, Broad thumb, Finger syndactyly, Bicoronal synostosis, Apl...	ORPHA:93258
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Wrist hypermobility, Narrow nasal bridge, Joint hypermobility, Edema of the dorsum of hands, Edem...	ORPHA:544503
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Limitation of joint mobility, Micromelia, Clubbing of fingers, Respiratory ins...	ORPHA:1865
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Short nose	OMIM:613670
Alg1-Cdg	Limitation of joint mobility, Respiratory failure, Cardiomyopathy	ORPHA:79327
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Oligohydramnios, Intrauterine growth retardation, Patellar...	OMIM:617604
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Intrauterine growth retardation, Micrognathia, Joint contracture, Slender nose, Short nose	OMIM:615419
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Clinodactyly of the 2nd finger, Micrognathia, Diaphyseal undertubulation, Finger joint hypermobil...	OMIM:620663
Odontochondrodysplasia 1	Mesomelia, Metaphyseal cupping, Micromelia, Cone-shaped epiphyses of the phalanges of the hand, D...	OMIM:184260
Fibular Aplasia-Complex Brachydactyly Syndrome	Synostosis of carpal bones, Micromelia, Limitation of joint mobility, Abnormal tibia morphology, ...	ORPHA:2639
Marshall-Smith Syndrome	Choanal atresia, Bruising susceptibility, Anteverted nares, Increased susceptibility to fractures...	ORPHA:561
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ...	ORPHA:240
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Limitation of joint mobility, Camptodactyly of finger, Micrognathia, Symphalangism affecting the ...	ORPHA:2547
Kniest Dysplasia	Delayed epiphyseal ossification, Depressed nasal bridge, Rhizomelia, Dumbbell-shaped femur, Limit...	OMIM:156550
Lethal Acantholytic Erosive Disorder	Hypovolemic shock, Cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Camptodactyl...	ORPHA:158687
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Micrognathia, Dea...	OMIM:241800
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Hip contracture, Talipes equinovarus, Flexion contracture of finge...	OMIM:193700
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypertrophic cardiomyopathy, Respiratory failure, Congestive heart failure	ORPHA:70472
Chromosome 6Q11-Q14 Deletion Syndrome	Broad nasal tip, Micrognathia, Prominent nasal bridge, Joint hypermobility, Talipes equinovarus, ...	OMIM:613544
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dilated cardiomyopathy, Decreased mitochondrial number, Arrhythmia, Respiratory insufficiency due...	ORPHA:352447
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Achilles tendon contracture, Respiratory failure, Elbow contracture	OMIM:606612
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Depressed nasal bridge, Overlapping toe, Anteverted nares, Polyhydramnios, Intrauterine growth re...	ORPHA:254528
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcane...	ORPHA:163966
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Prominent nose, Micrognathia, Oligohydramnios, Tibial bowing, Limb undergrowth, Ro...	ORPHA:453510
ERI1-related disease	Osteopenia, Depressed nasal bridge, Slender metacarpals, Oligodactyly, Intrauterine growth retard...	OMIM:608739
Thoracic Dysplasia-Hydrocephalus Syndrome	Depressed nasal ridge, Limb undergrowth, Abnormal metaphysis morphology, Respiratory failure	ORPHA:1861
C Syndrome	Wide nasal bridge, Ulnar deviation of finger, Toe syndactyly, Fused sternal ossification centers,...	OMIM:211750
Hypochondroplasia	Micromelia, Short toe, Abnormal femur morphology, Joint hypermobility, Bowing of the long bones, ...	ORPHA:429
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Limitation of joint mobility, Micromelia, Respiratory insufficiency, Incr...	ORPHA:93274
14Q24.1Q24.3 Microdeletion Syndrome	Wide nasal bridge, Short thumb, Prominent nasal bridge, Limited elbow extension and supination, J...	ORPHA:401935
Scedosporiosis	Unusual skin infection, Osteomyelitis, Arthralgia/arthritis, Septic arthritis, Respiratory failur...	ORPHA:449280
Distal Duplication 18Q	Choanal atresia, Deviation of finger, Camptodactyly of finger, Anteverted nares, Micrognathia, Pr...	ORPHA:1716
Burn-Mckeown Syndrome	Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia, Short nose	ORPHA:1200
Clark-Baraitser Syndrome	Depressed nasal bridge, Sandal gap, Clinodactyly, Anteverted nares, Low hanging columella, Short ...	OMIM:617752
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteomalacia, Micrognathia, Abnormal metacarpal morphology, Large hands, Aplasia/hypoplasia of th...	ORPHA:2636
Thoracomelic Dysplasia	Genu valgum, Short ribs, Joint hypermobility, Limb undergrowth, Diaphyseal undertubulation, Abnor...	ORPHA:1803
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Flared metaphysis, Respiratory insufficiency, Short...	OMIM:187601
Fatty Acyl-Coa Reductase 1 Deficiency	Depressed nasal bridge, Short nose	ORPHA:438178
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Wide nasal bridge, Angel-shaped phalanx, Short distal phalanx of finger, Depressed nasal bridge, ...	OMIM:617102
Combined Oxidative Phosphorylation Deficiency 11	Cardiomyopathy, Death in childhood, Death in infancy, Neonatal death, Stillbirth, Polyhydramnios,...	OMIM:614922
Difference Of Sex Development-Intellectual Disability Syndrome	Spina bifida occulta, Genu valgum, Reduced bone mineral density, Short nose	ORPHA:2983
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Tachycardia, Flexi...	OMIM:613870
Arterial Tortuosity Syndrome	Cardiorespiratory arrest, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomy...	ORPHA:3342
Pfeiffer Syndrome	Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe...	OMIM:101600
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Complete duplication o...	ORPHA:363417
Infantile Systemic Hyalinosis	Osteopenia, Micromelia, Camptodactyly of finger, Osteomalacia, Lymphedema, Joint stiffness, Incre...	ORPHA:2176
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Limited elbow extension, Bowing of the legs	ORPHA:156728
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Dysplasia of the femoral head, Cone-shaped epiphysis of the 1st metac...	OMIM:607778
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Reduced left ventricular ejection fraction, Pleural effusion, Skin rash, Pulmonary e...	ORPHA:542323
Even-Plus Syndrome	Bifid nasal tip, Atopic dermatitis, Depressed nasal ridge, Dysplasia of the femoral head, Oligohy...	OMIM:616854
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Micromelia, Intrauterine growth retardation, Joint hypermobility, Decreased calvarial ossificatio...	ORPHA:2772
Thanatophoric Dysplasia Type 1	Depressed nasal bridge, Micromelia, Respiratory insufficiency, Joint stiffness, Femoral bowing, I...	ORPHA:1860
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Depressed nasal bridge, Toe syndactyly, Short toe, Camptodactyly ...	ORPHA:1327
Deafness-Lymphedema-Leukemia Syndrome	Bruising susceptibility, Lymphedema, Intracranial hemorrhage, Respiratory failure, Prolonged blee...	ORPHA:3226
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Fibular bowing, Femoral bowing, Sparse bone trabeculae,...	OMIM:600081
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Camptodactyly of finger, Intrauterine growth retardation, Talipes equinovarus, Ventilator depende...	OMIM:604320
Spondylometaphyseal Dysplasia, A4 Type	Limitation of joint mobility, Micromelia, Short palm, Coxa vara	ORPHA:168555
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Joint hypermobility, Spina bifida occulta, Reduced bone mineral density, Short ...	ORPHA:1185
Pontocerebellar Hypoplasia Type 1	Arthrogryposis multiplex congenita, Respiratory failure	ORPHA:2254
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of finger, Depressed nasal ridge, Broad nasal tip, Hypoplastic cervical vert...	ORPHA:79345
Mietens Syndrome	Wide nasal bridge, Short nose, Avascular necrosis of the capital femoral epiphysis, Joint stiffne...	ORPHA:2557
Kyphomelic Dysplasia	Limitation of joint mobility, Micromelia, Joint stiffness, Micrognathia, Missing ribs, Bowing of ...	ORPHA:1801
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density	OMIM:241520
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mesomelia, Osteopenia, Rhizomelia, Depressed nasal bridge, Short nose, Bulbous nose, Genu valgum,...	OMIM:271510
Hypertrichosis Cubiti	Rhizomelia, Prominent nasal bridge, Micromelia, Joint hypermobility	ORPHA:2220
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Wide nasal bridge, Rickets, Fibul...	OMIM:277440
Lethal Kniest-Like Dysplasia	Edema, Flared metaphysis, Abnormal cartilage morphology, Mesomelic/rhizomelic limb shortening, Sh...	ORPHA:2347
Bcard Syndrome	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Bruising suscept...	OMIM:612394
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Mitral regurgitation, Carpal bone hypoplasia, Tibial metaphyseal ir...	ORPHA:457395
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Clinodactyly of the 5th finger, Anteverted nares, Rocker bottom foot, Short nose	OMIM:618506
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Depressed nasal bridge, Hypoplasia of the o...	ORPHA:485
Radio-Renal Syndrome	Depressed nasal bridge, Chylothorax, Micromelia, Micrognathia, Pleural effusion, Hypoplasia of th...	ORPHA:3015
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Limited wrist movement, ...	OMIM:127300
Ruvalcaba Syndrome	Small hand, Synostosis of carpal bones, Micromelia, Intrauterine growth retardation, Brachydactyl...	ORPHA:3121
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Mitral regurgitation, Joint hypermobility, Arachnodactyly, Talipes equinovarus, Adducted thumb, C...	OMIM:615539
Alkuraya-Kucinskas Syndrome	Hand clenching, Depressed nasal bridge, Clinodactyly, Edema, Overlapping toe, Micrognathia, Overl...	OMIM:617822
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap...	OMIM:602557
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Neonatal respiratory distress, Clinodactyly, Tracheomalacia, Cardiomyopat...	OMIM:217980
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Dilated cardiomyopathy, Respiratory insufficiency, Hypertrophic cardiomyopathy, Death in infancy,...	OMIM:614299
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Depressed nasal bridge, Rickets, Osteomalacia, Avascular necrosis of the capital femo...	ORPHA:1901
Phosphoribosylaminoimidazole Carboxylase Deficiency	Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nares, Neonatal de...	OMIM:619859
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Fibular bowing,...	OMIM:300554
Beta-Mercaptolactate Cysteine Disulfiduria	Micromelia, Sandal gap, Anteverted nares, Genu valgum, Joint hypermobility, Arachnodactyly, Conve...	ORPHA:1035
Trigonocephaly 1	Wide nasal bridge, Craniosynostosis, Short nose	OMIM:190440
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Narrow nasal bridge, Micrognathia, Spina bifida occulta, Short nose	ORPHA:1514
Ciliary Dyskinesia, Primary, 5	Nasal polyposis, Neonatal respiratory distress, Recurrent sinusitis, Chronic rhinitis, Respirator...	OMIM:608647
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, Osteopenia, Intrauterine growth retardation, Limb undergrowth, Joint contractu...	OMIM:618005
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Joint stiffness, Hypoplasia of the...	ORPHA:2249
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Cranial hyperostosis, Flared metaphysis, Ascites, Micrognathia, Osteopetrosis, Decrea...	OMIM:259720
Verheij Syndrome	Short 5th finger, Wide nasal bridge, Broad nasal tip, Clinodactyly, Anteverted nares, Intrauterin...	OMIM:615583
Teebi Hypertelorism Syndrome 2	Depressed nasal bridge, Broad nasal tip, Clinodactyly of the 5th finger, Wide anterior fontanel, ...	OMIM:619736
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Depressed nasal bridge, Proximal femoral epiphysiolysis, Short fourth metatarsal, Ove...	OMIM:616723
17P13.3 Microduplication Syndrome	Clinodactyly of the 5th finger, Short nose, Wide nose	ORPHA:217385
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Micrognathia, Small proximal tibial epiphys...	ORPHA:96334
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Broad phalanx, Short foot, Short met...	OMIM:166250
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb,...	ORPHA:3258
Coxoauricular Syndrome	Abnormal femur morphology, Reduced bone mineral density, Micromelia	ORPHA:1508
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Camptodactyly of finger, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal metap...	ORPHA:2631
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Fibular bowing, Femoral bowin...	OMIM:241530
Robinow Syndrome, Autosomal Recessive 2	Wide nasal bridge, Broad thumb, Broad nasal tip, Clinodactyly, Prominent fingertip pads, Sandal g...	OMIM:618529
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Pruritus, Rickets, Epistaxis	OMIM:211600
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Micromelia, Mesomelic/rhizomelic limb shortening, Aplasia/Hypoplasia o...	ORPHA:2632
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Microretrognathia, Prolonged bleeding time, Bruising susceptibility, Decr...	OMIM:616229
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Micrognathia, Broad phalanx, Short metacarpal, Short nose, De...	OMIM:271665
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Joint contracture of the hand, Chylothorax, Subdural hemorrhage, Death in childhood, Death in inf...	OMIM:620278
Multiple Osteochondromas	Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology, Limited hip mo...	ORPHA:321
Acute Lung Injury	Shock, Diffuse alveolar hemorrhage, Respiratory failure, Edema	ORPHA:178320
Infant Acute Respiratory Distress Syndrome	Hypotension, Pulmonary edema, Bradycardia, Tachycardia, Cardiac arrest, Respiratory failure	ORPHA:70587
Metaphyseal Anadysplasia 2	Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin...	OMIM:613073
Schwartz-Jampel Syndrome, Type 1	Abnormal femoral epiphysis morphology, Joint contracture of the hand, Shoulder flexion contractur...	OMIM:255800
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Respiratory insufficiency, Ascites, Congestive h...	ORPHA:90308
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Death in childhood, Death in adolescence, Osteoporosis, Dehydration	OMIM:560000
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Micromelia, Ca...	ORPHA:2633
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Intrauterine growth retardation, Short nose, Polydactyly	OMIM:616910
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Depressed nasal bridge...	ORPHA:85166
Acromesomelic Dysplasia 1	Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of...	OMIM:602875
Boutonneuse Fever	Vasculitis, Skin rash, Petechiae, Maculopapular exanthema, Respiratory failure	ORPHA:83313
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Toe syndactyly, Camptodactyly of finger, Tricuspid regurgitation, Bulbous nose...	ORPHA:261211
Multiple Mitochondrial Dysfunctions Syndrome 1	Respiratory insufficiency, Death in infancy, Neonatal death, Pulmonary arterial hypertension, Res...	OMIM:605711
Congenital Multicore Myopathy With External Ophthalmoplegia	Joint hypermobility, Polyhydramnios, Flexion contracture, Respiratory failure, Edema	ORPHA:98905
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Lymphedema, Oligohydramnios, Death in infancy, Bowing of the long b...	ORPHA:1318
Peho Syndrome	Edema of the dorsum of hands, Short nose, Edema of the dorsum of feet, Edema, Tapered finger	OMIM:260565
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Rickets, Osteomalacia, Trapezoidal distal femoral condyles, Genu va...	OMIM:307800
Axial Spondylometaphyseal Dysplasia	Flattened femoral head, Osteopenia, Neonatal respiratory distress, Aplasia/Hypoplasia of the vert...	ORPHA:168549
Hypercholanemia, Familial 1	Pruritus, Rickets	OMIM:607748
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Wide nasal bridge, Broad columella, Hypertrophic cardiomyopathy, Overlapping toe, Narrow nasal br...	OMIM:619383
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Diaphyseal undertubulation, Abnormal bone ossification, Met...	ORPHA:175
Immunodeficiency 54	Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency	OMIM:609981
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Neonatal respiratory distress, Bulbous nose, Prominent nasal bridge, Clin...	OMIM:618828
Congenital Myopathy 21 With Early Respiratory Failure	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Respiratory failure	OMIM:620326
Opsismodysplasia	Depressed nasal bridge, Rhizomelia, Hypoplasia of the odontoid process, Metaphyseal cupping, Edem...	OMIM:258480
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Leigh Syndrome, Nuclear	Respiratory failure, Respiratory insufficiency	OMIM:256000
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertension, Respiratory failure	ORPHA:363400
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Slender finger, Clinodactyly, Anteverted nares, Micrognathia, Intrauterine growth retardation, Jo...	ORPHA:391408
Nephronophthisis 2	Respiratory insufficiency, Oligohydramnios, Pulmonary insufficiency, Hypertension, Respiratory fa...	OMIM:602088
Robinow Syndrome, Autosomal Dominant 2	Short distal phalanx of finger, Depressed nasal bridge, Broad thumb, Clinodactyly, Anteverted nar...	OMIM:616331
Asbestos Intoxication	Right ventricular failure, Hepatojugular reflux, Respiratory failure, Edema, Clubbing of fingers	ORPHA:2302
Image Syndrome	Depressed nasal bridge, Intrauterine growth retardation, Micromelia, Metaphyseal dysplasia	ORPHA:85173
Jeune Syndrome	Toe syndactyly, Postaxial foot polydactyly, Micromelia, Respiratory insufficiency, Brachydactyly,...	ORPHA:474
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Talipes equinovarus, Radioulnar syno...	ORPHA:536467
Lowry-Maclean Syndrome	Osteopenia, Choanal atresia, Intrauterine growth retardation, Micrognathia, Convex nasal ridge, O...	ORPHA:2409
Perlman Syndrome	Wide nasal bridge, Anteverted nares, Micrognathia, Short nose	ORPHA:2849
Al-Raqad Syndrome	Sandal gap, Brachydactyly, Short nose, Joint hypermobility	OMIM:616459
Hall-Riggs Syndrome	Wide nasal bridge, Joint stiffness, Prominent nose, Anteverted nares, Limb undergrowth, Brachydac...	ORPHA:2107
Atelosteogenesis Type I	Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Talipes equinovarus, Lim...	ORPHA:1190
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Bilatera...	OMIM:601356
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Petechiae, Vasculitis in the skin, Purpura, Respira...	OMIM:620296
Pfeiffer Syndrome Type 2	Deviation of the thumb, Choanal atresia, Small hand, Broad thumb, Toe syndactyly, Finger syndacty...	ORPHA:93259
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Osteopenia, Depressed nasal bridge, Hypoplasia of the odontoid p...	OMIM:616007
Hypocalcemic Vitamin D-Resistant Rickets	Coarse metaphyseal trabecularization, Osteomalacia, Genu valgum, Abnormal metaphysis morphology, ...	ORPHA:93160
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia...	OMIM:304120
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Gingival bleeding, Osteopenia, Short toe, Bruising susceptibility, Micrognathia, Blepharochalasis...	OMIM:225410
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Sho...	OMIM:613443
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Fibular bowing, Femoral ...	OMIM:264700
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
16P12.1P12.3 Triplication Syndrome	Short 5th finger, Prominent fingertip pads, Bulbous nose, Intrauterine growth retardation, Clinod...	ORPHA:485405
Tetrasomy 5P	Wide nasal bridge, Congestive heart failure, Overlapping toe, Micrognathia, Anteverted nares, Hea...	ORPHA:3309
Multiple Acyl-Coa Dehydrogenase Deficiency	Depressed nasal bridge, Cardiorespiratory arrest, Cardiomyopathy, Congestive heart failure, Arrhy...	ORPHA:26791
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Ulnar deviation of finger, Micromelia, Camptodactyly of finger, Arrhythmia, Brachydactyly	ORPHA:2928
Hypophosphatasia, Adult	Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac...	OMIM:146300
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Joint contracture of the hand, Limitation of joint mobility, Prominent no...	ORPHA:363528
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Osteopenia, Depressed nasal bridge, Restrictive cardiomyopathy, Ante...	OMIM:615398
Adult Acute Respiratory Distress Syndrome	Vasculitis, Hypotension, Shock, Pulmonary edema, Respiratory failure	ORPHA:70578
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Preaxial foot polydactyly, Micrognathia, Talipes equinovarus, Ra...	ORPHA:1988
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, 2-3 toe syndactyly, Long fingers, Flexion contracture, Short nose, Tapered finger	OMIM:218000
Pontocerebellar Hypoplasia, Type 2E	Micrognathia, Facial telangiectasia, Osteoporosis, Flexion contracture, Short nose, Wide nose	OMIM:615851
Poikiloderma With Neutropenia	Depressed nasal bridge, Edema, Underdeveloped nasal alae, Joint stiffness, Micrognathia, Skin ras...	OMIM:604173
Codas Syndrome	Depressed nasal bridge, Anteverted nares, Midline defect of the nose, Joint hypermobility, Brachy...	ORPHA:1458
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Small hand, Broad thumb, Slender finger, Broad hallux, Micrognathia, Prominent nasal ...	ORPHA:251028
Premature Aging Syndrome, Penttinen Type	Short distal phalanx of finger, Narrow nose, Micrognathia, Prominent nasal bridge, Tibial bowing,...	OMIM:601812
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Wide nasal bridge, Arthrogryposis-like hand anomaly, Depressed nasal bridge, Clinodactyly, Bulbou...	ORPHA:369891
Autosomal Dominant Omodysplasia	Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Micrognathia, Short humerus, Short nose...	ORPHA:93328
Kagami-Ogata Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Pulmonic stenosis, Limb undergrowth, Pulm...	OMIM:608149
Oculodentodigital Dysplasia	Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Arrhythmia, Short hallux, Short no...	ORPHA:2710
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Subluxation of the small joints of the hand, Micrognathia, Dysplasia of th...	ORPHA:536471
Pneumocystosis	Respiratory insufficiency, Pleural effusion, Chronic oral candidiasis, Respiratory failure, Respi...	ORPHA:723
Combined Oxidative Phosphorylation Deficiency 4	Intrauterine growth retardation, Respiratory failure, Death in infancy	OMIM:610678
Antley-Bixler Syndrome	Choanal atresia, Camptodactyly of finger, Joint stiffness, Femoral bowing, Anteverted nares, Arac...	ORPHA:83
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Short nose	ORPHA:2598
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Contractures of the large joints, Micrognathia, Polyhydramnios, Short nose	ORPHA:329178
Pycnodysostosis	Coronal craniosynostosis, Small hand, Rhizomelia, Acromelia, Short finger, Prominent nose, Microg...	ORPHA:763
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Flared metaphysis, Central vertebral hypopla...	ORPHA:93352
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Pyruvate Dehydrogenase E1-Alpha Deficiency	Intrauterine growth retardation, Flexion contracture, Limb undergrowth, Neonatal respiratory dist...	ORPHA:79243
Hypophosphatemic Bone Disease	Bowing of the legs, Rickets, Osteomalacia	OMIM:146350
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Short distal phalanx of finger, Anosmia, Joint stiffness, Genu valgum, Abnormal metacarpal morpho...	ORPHA:1295
Gomez-Lopez-Hernandez Syndrome	Craniosynostosis, Anteverted nares, Wide anterior fontanel, Short nose	OMIM:601853
20Q11.2 Microduplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Palpebral edema, Anteverted nares, Limited elbow exten...	ORPHA:363659
Tbck-Related Intellectual Disability Syndrome	Wide nasal bridge, Clinodactyly, Eczematoid dermatitis, Respiratory insufficiency, Bulbous nose, ...	ORPHA:488632
Raine Syndrome	Choanal atresia, Depressed nasal bridge, Micromelia, Long hallux, Micrognathia, Death in infancy,...	OMIM:259775
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose	ORPHA:2429
Distal Duplication 5Q	Absent thumb, Eczematoid dermatitis, Micrognathia, Prominent nasal bridge, Brachydactyly, Hypopla...	ORPHA:96097
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Ascites, Anteverted nares, Micrognathia, Intrauterine growth retardation,...	OMIM:608013
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Intrauterine growth retardation, Micrognathia, Distal arthrogryposis, Sho...	OMIM:619833
Langer Mesomelic Dysplasia	Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul...	OMIM:249700
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Slender finger, Respiratory failure	OMIM:250940
Gm1 Gangliosidosis	Depressed nasal ridge, Depressed nasal bridge, Broad nasal tip, Coarse metaphyseal trabecularizat...	ORPHA:354
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Rhizomelia, Eczematoid dermatitis, Bruising susceptibility, Elbow contracture,...	OMIM:618162
Aarskog-Scott Syndrome	Short 5th finger, Wide nasal bridge, Hypoplasia of the odontoid process, Clinodactyly, Radial dev...	OMIM:305400
Mitochondrial Trifunctional Protein Deficiency 1	Dilated cardiomyopathy, Respiratory insufficiency, Congestive heart failure, Arrhythmia, Hydrops ...	OMIM:609015
Ohdo Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Micrognathia, Joint hypermobility, C...	OMIM:249620
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Prominent nasal bridge, Prominent fingertip pads, Short nose	OMIM:300558
Proximal Spinal Muscular Atrophy	Neonatal respiratory distress, Elbow flexion contracture, Multiple joint contractures, Knee flexi...	ORPHA:70
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Wide nasal bridge, Depressed nasal bridge, Overlapping toe, Overlapping fingers, Prominent nose, ...	OMIM:618316
Teebi Hypertelorism Syndrome 1	Wide nasal bridge, Coronal craniosynostosis, Small hand, Depressed nasal bridge, Anteverted nares...	OMIM:145420
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Short nose	ORPHA:1906
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral triphalangeal thumbs, Short distal phalanx of finger, Anteverted nares, Micrognathia, S...	OMIM:619356
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Postaxial foot polydactyly, Broad phalanges of the hand, Hypoplasia of the o...	ORPHA:508533
Bartsocas-Papas Syndrome	Synostosis of joints, Toe syndactyly, Absent thumb, Finger syndactyly, Underdeveloped nasal alae,...	ORPHA:1234
Distal Deletion 17Q	Small hand, Deviation of finger, Micromelia, Respiratory insufficiency, Abnormal thumb morphology...	ORPHA:1597
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno...	ORPHA:83451
Geleophysic Dysplasia 1	Wide nasal bridge, Osteopenia, Joint contracture of the hand, Aortic valve stenosis, Short metaca...	OMIM:231050
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Respiratory failure, Achilles tendon contracture	OMIM:603689
Meckel Syndrome, Type 8	Depressed nasal ridge, Polydactyly, Talipes equinovarus, Pericardial effusion, Short nose	OMIM:613885
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Anteverted nares, Pulmonic stenosis, Brachydactyly, Short nose	ORPHA:2701
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Underdeveloped nasal alae, Camptodactyly of finger, Intrauterine growth retardation, Micrognathia...	ORPHA:2083
Bainbridge-Ropers Syndrome	Wide nasal bridge, Hand clenching, Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal ...	OMIM:615485
Prolidase Deficiency	Depressed nasal bridge, Eczematoid dermatitis, Micrognathia, Petechiae, Crusting erythematous der...	OMIM:170100
Mandibuloacral Dysplasia With Type B Lipodystrophy	Micrognathia, Death in early adulthood, Short clavicles, Acroosteolysis of distal phalanges (feet...	OMIM:608612
Thanatophoric Dysplasia, Glasgow Variant	Micromelia, Neonatal death	OMIM:273680
Stickler Syndrome Type 1	Short nose, Osteoarthritis, Joint hypermobility	ORPHA:90653
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension, Respiratory failure	OMIM:619483
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Micrognathia, Talipes equinovarus, Aplasia/hypoplasia of the femur, ...	OMIM:609945
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Rickets, Anasarca, Respiratory insufficiency, Ascites, Intrauterine growth retardatio...	OMIM:613658
Peho Syndrome	Pedal edema, Limitation of joint mobility, Anteverted nares, Peripheral edema, Palpebral edema, F...	ORPHA:2836
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Osteomalacia, Fibular bowing, Femoral bowing, Sparse bo...	OMIM:300009
Congenital Myopathy 10B, Mild Variant	Achilles tendon contracture, Respiratory failure, Elbow contracture	OMIM:620249
Pfeiffer Syndrome Type 3	Choanal atresia, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Limitation of joint ...	ORPHA:93260
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Dehydration	OMIM:602722
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Death in infancy, Neonatal death, Pulmonary arterial hypertension,...	OMIM:265120
Linear Skin Defects With Multiple Congenital Anomalies 2	Pulmonary arterial hypertension, Sandal gap, Short nose	OMIM:300887
Camptodactyly Syndrome, Guadalajara Type 3	Wide nasal base, Osteopenia, Small hand, Broad nasal tip, Broad femoral neck, Broad columella, Di...	ORPHA:488434
Distal Deletion 10Q	2-3 toe cutaneous syndactyly, Wide nasal bridge, Clinodactyly, Prominent fingertip pads, Sandal g...	ORPHA:96148
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Respiratory failure	OMIM:263000
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure	OMIM:613954
Acute Interstitial Pneumonia	Peripheral edema, Pleural effusion, Pericardial effusion, Hypertension, Respiratory failure	ORPHA:79126
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Depressed nasal bridge, Rhizomelia, Clinodactyly, Bulbous nose, Intrauterin...	OMIM:614114
Staphylococcal Necrotizing Pneumonia	Hypotension, Shock, Pleural effusion, Respiratory failure, Pleural empyema	ORPHA:36238
Smith-Kingsmore Syndrome	Short distal phalanx of finger, Rhizomelia, Depressed nasal bridge, Short proximal phalanx of fin...	OMIM:616638
Spondyloepiphyseal Dysplasia, Kimberley Type	Micromelia, Osteoarthritis	ORPHA:93283
Myhre Syndrome	Aortic valve stenosis, Limitation of joint mobility, Short toe, Clinodactyly, Short finger, Radia...	OMIM:139210
Dysostosis, Stanescu Type	Micromelia, Massively thickened long bone cortices, Narrow nasal bridge, Bowing of the long bones...	ORPHA:1798
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Death in childhood	OMIM:615838
Fibrochondrogenesis	Depressed nasal bridge, Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camptoda...	ORPHA:2021
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Micrognathia, Short nose	OMIM:617183
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip, Short nose	OMIM:615716
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	ORPHA:444013
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ...	OMIM:268310
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h...	ORPHA:1836
4Q21 Microdeletion Syndrome	Depressed nasal bridge, Small hand, Toe syndactyly, Micromelia, Intrauterine growth retardation, ...	ORPHA:238750
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, Humeroradial synostosis, Arachn...	ORPHA:95699
Desmosterolosis	Depressed nasal bridge, Micromelia, Abnormality of the nose, Intrauterine growth retardation, Mic...	ORPHA:35107
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph...	ORPHA:2879
Geleophysic Dysplasia 2	Aortic valve stenosis, Limitation of joint mobility, Respiratory insufficiency, Joint stiffness, ...	OMIM:614185
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Long hallux, Anteverted nares, Short nose, Tapered finger	OMIM:619854
Niemann-Pick Disease, Type C2	Fetal ascites, Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Deat...	OMIM:607625
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Fractures of the long bones, Micrognathia, Polyhydramnios, Arthrogryposis multiplex congenita, Re...	ORPHA:496641
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Death in infancy, Choanal stenosis, Polyhydramnios, Craniosynostosis, Short nose	ORPHA:1790
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Cardiomyopathy, Osteomal...	ORPHA:289157
Neu-Laxova Syndrome	Osteopenia, Depressed nasal ridge, Rickets, Micromelia, Osteomalacia, Intrauterine growth retarda...	ORPHA:2671
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Pleural effusion, Petech...	ORPHA:340
Triosephosphate Isomerase Deficiency	Respiratory insufficiency, Congestive heart failure, Oligohydramnios, Death in infancy, Death in ...	OMIM:615512
Meckel Syndrome, Type 9	Talipes equinovarus, Limb undergrowth	OMIM:614209
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose	ORPHA:833
Osteogenesis Imperfecta, Type X	Osteopenia, Rhizomelia, Micromelia, Genu valgum, Micrognathia, Fibular bowing, Tibial bowing, Dec...	OMIM:613848
Fibrochondrogenesis 2	Metaphyseal cupping, Anteverted nares, Micrognathia, Short ribs, Metaphyseal widening, Short nose	OMIM:614524
Sponastrime Dysplasia	Delayed epiphyseal ossification, Genu valgum, Aplasia of the nasal bone, Hypoplasia of the nasal ...	ORPHA:93357
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Polyhydramnios, Respiratory failure, Death in childhood	OMIM:619847
Idiopathic Pulmonary Hemosiderosis	Heart murmur, Diffuse alveolar hemorrhage, Respiratory failure	ORPHA:99931
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Respiratory insufficiency, Tricuspid regurgitation, Congestive heart failure, Equ...	ORPHA:746
Absent Eyebrows And Eyelashes With Impaired Intellectual Development	Convex nasal ridge, Short nose	OMIM:200130
Severe X-Linked Intellectual Disability, Gustavson Type	Recurrent upper respiratory tract infections, Contractures of the large joints, Micrognathia, Tri...	ORPHA:3078
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
Plaa-Associated Neurodevelopmental Disorder	Postaxial foot polydactyly, Contractures of the large joints, Respiratory insufficiency, Microgna...	ORPHA:521426
Smith-Magenis Syndrome	Wide nasal bridge, Depressed nasal bridge, Toe syndactyly, Joint stiffness, Micrognathia, Antever...	ORPHA:819
Intellectual Developmental Disorder, X-Linked 21	Short nose, Joint hypermobility	OMIM:300143
Avian Influenza	Congestive heart failure, Pleural effusion, Respiratory failure, Miscarriage	ORPHA:454836
Otopalatodigital Syndrome Type 2	Depressed nasal bridge, Synostosis of carpal bones, Short thumb, Carpal synostosis, Preaxial poly...	ORPHA:90652
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Short tibia, Radial bowing, Short thumb, Dista...	OMIM:201250
Tetrasomy 18P	Syncope, Large hands, Short nose	ORPHA:3307
Cebalid Syndrome	Depressed nasal bridge, Depressed nasal ridge, Anteverted nares, Short nose	OMIM:618774
Fetal Trimethadione Syndrome	Depressed nasal bridge, Intrauterine growth retardation, Micrognathia, Short nose	ORPHA:1913
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Genu v...	ORPHA:63446
Primary Ciliary Dyskinesia	Nasal polyposis, Neonatal respiratory distress, Nasal congestion, Chronic rhinitis, Clubbing, Res...	ORPHA:244
Nievergelt Syndrome	Genu valgum, Talipes equinovarus, Radioulnar synostosis, Metatarsus adductus, Tarsal synostosis, ...	OMIM:163400
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Depressed nasal bridge, Radial deviation of the hand, Short tibia, Shor...	ORPHA:2756
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Cardiomyopathy, Respiratory insufficiency, Reduced left ventricular ejection fraction, Arrhythmia...	ORPHA:258
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Micrognathia, Death in childhood, Hip contr...	OMIM:210710
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Micrognathia, Short nose	OMIM:614744
Alg9-Cdg	Depressed nasal bridge, Rhizomelia, Microretrognathia, Flared metaphysis, Underdeveloped nasal al...	ORPHA:79328
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib...	ORPHA:2634
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Short finger, Joint hypermobility, Absent nasal bridge, Brachydactyly, M...	OMIM:612813
Acromesomelic Dysplasia 4	Wide nasal bridge, Rhizomelia, Radial bowing, Short toe, Short finger, Sandal gap, Broad finger, ...	OMIM:619636
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory insufficiency, Hypertrophic cardiomyopathy, Shortened PR interval, Low-output congest...	ORPHA:308552
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Wide nasal bridge, Depressed nasal bridge, Sandal gap, Bulbous nose, Micrognathia, 2-3 toe syndac...	OMIM:617061
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Foot polydactyly, Short nose, Preaxial hand polydactyly	ORPHA:210548
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Depressed nasal bridge, Rhizomelia, Metaphyseal cupping, Radial bowing, Short femoral neck, Broad...	OMIM:618019
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Micromelia, Respiratory insufficiency, Micrognathia, Neonatal death, Bowing of...	OMIM:224410
Acrofacial Dysostosis, Catania Type	Small hand, Microretrognathia, Finger syndactyly, Intrauterine growth retardation, Clinodactyly o...	ORPHA:1786
Ophthalmomandibulomelic Dysplasia	Lateral humeral condyle aplasia, Radial bowing, Decreased mobility 3rd-5th fingers, Ulnar deviate...	OMIM:164900
Developmental And Epileptic Encephalopathy 89	Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Anteverted nares, Death in childhoo...	OMIM:619124
Developmental And Epileptic Encephalopathy 75	Wide nasal bridge, Anteverted nares, Cardiomyopathy, Short nose	OMIM:618437
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Depressed nasal bridge, Elbow flexion contracture, Anteverted nares, Micrognathia, Knee flexion c...	OMIM:300868
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Wide nasal bridge, Bulbous nose, Short nose	OMIM:620292
Postsynaptic Congenital Myasthenic Syndromes	Respiratory failure	ORPHA:98913
Desmosterolosis	Rhizomelia, Joint contracture of the hand, Hypoplastic nasal bridge, Anteverted nares, Micrognath...	OMIM:602398
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Short toe, Edema, Short finger, Ascites, Respiratory insufficiency, Intraut...	OMIM:269860
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal death, Short nos...	OMIM:146510
5Q14.3 Microdeletion Syndrome	Anteverted nares, Toe syndactyly, Short nose	ORPHA:228384
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal fingertip morphology, Short distal phalanx of finger, Micrognathia, Aplasia/Hypoplasia o...	ORPHA:90154
S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Hydrops fetalis, Respiratory failure, Prolonged prothrombin time	ORPHA:88618
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Laron Syndrome	Limb undergrowth	OMIM:262500
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Reduced bone mineral density, Bowing...	ORPHA:157215
Congenital Varicella Syndrome	Intrauterine growth retardation, Micromelia	ORPHA:291
Musculocontractural Ehlers-Danlos Syndrome	Slender finger, Microretrognathia, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemor...	ORPHA:2953
Dpm1-Cdg	Depressed nasal bridge, Sandal gap, Long hallux, Micrognathia, Knee flexion contracture, Limb und...	ORPHA:79322
Marshall Syndrome	Depressed nasal bridge, Radial bowing, Short nose, Irregular femoral epiphysis, Micrognathia, Cli...	OMIM:154780
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Short distal phalanx of finger, Depressed nasal bridge, Clinodactyly, Underdeveloped nasal alae, ...	OMIM:615866
Donnai-Barrow Syndrome	Depressed nasal bridge, Wide anterior fontanel, Short nose	ORPHA:2143
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Sandal gap, Bulbous nose, Clinodactyly of the 5th finger, Short nose, Tap...	OMIM:618430
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Depressed nasal bridge, Osteopenia, Joint hypermobility, Long nose, Right bundle branch block, Sh...	OMIM:618590
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Joint hypermobility, Absent nasal bridge, Brachydactyly, Mesomelia	ORPHA:171866
Microlissencephaly-Micromelia Syndrome	Micromelia, 11 pairs of ribs, Adducted thumb, Polyhydramnios, Palpebral edema, Short nose

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