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Gene: Zfhx4 MGI:2137668

Gene Summary

Name:

zinc finger homeodomain 4

Synonyms:

Zfh-4, C130041O22Rik, Zfh4

Order Alleles

IMPC Data Collections

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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased exploration in new environment	Zfhx4^em1(IMPC)J	HET	Early adult	6.60×10^-07
decreased hematocrit	Zfhx4^em1(IMPC)J	HET	Early adult	9.24×10^-05
preweaning lethality, complete penetrance	Zfhx4^em1(IMPC)J	HOM	Early adult	0.00

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Electroretinography 3

Fundus file

7 Images

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Combined SHIRPA and Dysmorphology

Images

3 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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MicroCT E18.5

Embryo reconstruction

4 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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Electrocardiogram (ECG)

Waveform Image

17 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Zfhx4 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 Zfhx4 (1 diseases)
Human diseases predicted to be associated with Zfhx4 (765 diseases)

The table below shows human diseases associated to Zfhx4 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ptosis, Hereditary Congenital 1			OMIM:178300

The table below shows human diseases predicted to be associated to Zfhx4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal...	OMIM:200700
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Microglossia, Respiratory distress, Temporomandibular joint ankylo...	ORPHA:141152
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Tarsal synost...	OMIM:147891
Perching Syndrome	Respiratory distress, Cyanosis, Joint contracture, Camptodactyly, High palate	OMIM:617055
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas...	OMIM:619598
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Abnormal foot morphology, Upper limb undergrowth, Aplasia/hy...	ORPHA:75508
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Dislocated radial head, Micrognathia, Narrow...	OMIM:602471
Pierre Robin Sequence With Facial And Digital Anomalies	Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,...	OMIM:311895
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Neonatal death, Talipes, Talipes...	OMIM:108720
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Respiratory distr...	OMIM:614669
Lethal Osteosclerotic Bone Dysplasia	Retrognathia, Respiratory distress, Gingival overgrowth, Median cleft palate, Micrognathia, Micro...	ORPHA:1832
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Long philtrum, Limited elbow flexion, Rhizomelic arm sh...	OMIM:164745
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal h...	OMIM:222765
Bullous Dystrophy, Hereditary Macular Type	Short finger, Death in childhood, Microcephaly, Acrocyanosis, Tapered finger	OMIM:302000
Rhizomelic Chondrodysplasia Punctata, Type 5	Metaphyseal cupping, Contractures of the large joints, Short femoral neck, Pes cavus, Short humer...	OMIM:616716
Lethal Recessive Chondrodysplasia	Micromelia, Respiratory distress, Micrognathia, Flared elbow metaphyses, Generalized osteoscleros...	ORPHA:1423
Mesomelic Limb Shortening And Bowing	Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm,...	OMIM:249710
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ...	ORPHA:440354
Odontochondrodysplasia 1	Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ...	OMIM:184260
Pierre Robin Syndrome And Oligodactyly	Finger aplasia, Micrognathia, Cleft palate, Pierre-Robin sequence	OMIM:172880
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Short humerus, Brachydactyl...	ORPHA:2831
Kyphomelic Dysplasia	Limitation of joint mobility, Radial bowing, Cleft upper lip, Micromelia, Flared metaphysis, Dumb...	OMIM:211350
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh...	OMIM:601438
Autosomal Dominant Omodysplasia	Rhizomelia, Short 1st metacarpal, Elbow dislocation, Long philtrum, Micrognathia, Malar flattenin...	ORPHA:93328
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger...	ORPHA:93323
Spondyloepiphyseal Dysplasia Congenita	Aplasia/hypoplasia involving bones of the extremities, Short femoral neck, Abnormal foot morpholo...	ORPHA:94068
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long philtrum, Preaxial ...	ORPHA:1988
Odontochondrodysplasia	Dentinogenesis imperfecta, Cone-shaped epiphysis, Square pelvis bone, Retrognathia, Delayed erupt...	ORPHA:166272
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Flared metaphysis, Short 5th metacarpal, Short middle phalanx of the 2...	OMIM:156510
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Micrognathia, Genu valg...	ORPHA:56304
Multiple Synostoses Syndrome 1	Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndactyly, Proximal/middle sympha...	OMIM:186500
Heinz Body Anemias	Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia	OMIM:140700
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Long philtrum, Ectrodactyly, Radial club hand, Abnormal dental morphology, Abnormality of the wri...	ORPHA:2878
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi...	ORPHA:2141
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Abnormality of the dentition, Micrognathia, Abnormal morphology of ulna, Abnormal...	ORPHA:3104
Cerebrooculofacioskeletal Syndrome 3	Micrognathia, Cutaneous photosensitivity, Talipes equinovarus, Microcephaly, Rocker bottom foot, ...	OMIM:616570
Osteogenesis Imperfecta, Type X	Dentinogenesis imperfecta, Osteopenia, Rhizomelia, Micromelia, Respiratory distress, Micrognathia...	OMIM:613848
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Abnormality of the wrist, Short humerus, Microcephaly, Aplasia/Hypoplasia of the ulna...	ORPHA:2491
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Fibular hypoplasia, Mi...	OMIM:612447
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Fractured radius, Unilateral cleft lip, Flared metaphysis, Decreased fibular diameter...	OMIM:616897
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Atelosteogenesis Type I	Laryngotracheal stenosis, Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia...	ORPHA:1190
Multiple Synostoses Syndrome 3	Cutaneous syndactyly of toes, Broad thumb, Broad hallux, Humeroradial synostosis, Cubitus valgus,...	OMIM:612961
Achondroplasia	Rhizomelia, Radial bowing, Flared metaphysis, Respiratory distress, Femoral bowing, Limited elbow...	OMIM:100800
Arthrogryposis, Distal, Type 1C	Bifid uvula, Cleft lip, Shoulder flexion contracture, Retrognathia, Pursed lips, Camptodactyly of...	OMIM:619110
Kniest Dysplasia	Delayed epiphyseal ossification, Rhizomelia, Limitation of joint mobility, Tracheomalacia, Dumbbe...	OMIM:156550
Acheiropody	Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C...	OMIM:200500
Neuralgic Amyotrophy	Bifid uvula, Narrow mouth, Scapular winging, Acrocyanosis, Upper limb amyotrophy, Cleft palate, S...	ORPHA:2901
Multiple Epiphyseal Dysplasia, Lowry Type	Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Small epiphyses, Micrognathia,...	ORPHA:166016
Congenital Disorder Of Glycosylation, Type Iu	Congenital contracture, Respiratory distress, Secondary microcephaly, Micrognathia, Death in infa...	OMIM:615042
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P...	ORPHA:3329
Autosomal Recessive Distal Osteolysis Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Short distal phalanx of finger, Osteolysis	ORPHA:2776
Aase-Smith Syndrome	Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Joint stiffness, Abnor...	ORPHA:916
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Cleft upper lip, Foot oligodactyly, Amelia, Bilateral cleft palate, Bilateral clef...	OMIM:601357
Congenital Disorder Of Glycosylation, Type Iy	Clinodactyly, Widely spaced teeth, Respiratory distress, Micrognathia, Microcephaly, Wide mouth	OMIM:300934
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress, Limitation of joint mobility	ORPHA:2680
Diaphanospondylodysostosis	Respiratory distress, Absent or minimally ossified vertebral bodies, Missing ribs, Narrow pelvis ...	ORPHA:66637
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Short humerus, Lateral femoral bowing, Bowing of the ...	OMIM:239000
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Microglossia, Radial deviation of the hand, Retrognathia, Short thumb, Microgna...	OMIM:227270
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl...	ORPHA:3320
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Melnick-Needles Syndrome	Tooth malposition, Hypoplastic scapulae, Short distal phalanx of finger, Delayed eruption of teet...	OMIM:309350
Stuve-Wiedemann Syndrome 2	Respiratory distress, Neonatal death, Bowing of the long bones, Death in adolescence, Short long ...	OMIM:619751
Split-Hand/Foot Malformation 3	Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, Split hand, Camptodactyly, High palat...	OMIM:246560
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Respiratory distress, Short humerus, Short ribs, Thin upper ...	OMIM:607143
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Talipes equinovarus, Microcepha...	ORPHA:85279
Fetal Akinesia Deformation Sequence 4	Retrognathia, 11 pairs of ribs, Micrognathia, Prenatal death, Neonatal death, Camptodactyly, High...	OMIM:618393
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite, Cleft palate	OMIM:119540
Atelosteogenesis, Type Ii	Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Micrognath...	OMIM:256050
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Short distal phalanx of finger, Short toe, Abnormal mandible morphology, Cam...	ORPHA:3201
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Microglossia, Microretrognathia, Aplasia/Hypoplasia of the radius, Abn...	ORPHA:1307
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Retrognathia, Elbow dislocation, Camptodactyly of finger, Abnormal...	ORPHA:2631
Moebius Syndrome	Bifid uvula, Abnormality of the dentition, Hand clenching, Abnormal pelvic girdle bone morphology...	OMIM:157900
Phosphoserine Aminotransferase Deficiency	Secondary microcephaly, Cyanotic episode, Apnea, Death in infancy	OMIM:610992
Ivic Syndrome	Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Radioulnar synostosis, C...	OMIM:147750
Atelosteogenesis Type Iii	Hand clenching, Patellar dislocation, Absent humerus, Short tibia, Elbow dislocation, Knee disloc...	ORPHA:56305
Catel-Manzke Syndrome	Ulnar deviation of the 2nd finger, Micrognathia, Narrow mouth, Genu valgum, Talipes equinovarus, ...	OMIM:616145
Cerebrocostomandibular Syndrome	Carious teeth, Cleft soft palate, Micrognathia, Short hard palate, High palate, Pierre-Robin sequ...	OMIM:117650
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Limitation of joint mobility, Short t...	ORPHA:90650
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Delayed eruptio...	OMIM:600373
Auriculocondylar Syndrome 4	Micrognathia, Apnea, Narrow mouth, Glossoptosis, Cleft palate	OMIM:620457
Temtamy Preaxial Brachydactyly Syndrome	Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar...	ORPHA:363417
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Widely spaced te...	OMIM:617102
Auriculocondylar Syndrome	Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno...	ORPHA:137888
Congenital Disorder Of Glycosylation, Type Ie	High, narrow palate, Ankle flexion contracture, Small hand, Upper limb undergrowth, Respiratory d...	OMIM:608799
Primary Pulmonary Hypoplasia	Patellar hypoplasia, Micrognathia, Apnea, Cyanosis, Microcephaly, Tachypnea, Hypoxemia, Cleft palate	ORPHA:2257
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Bifid uvula, Retrognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Mi...	ORPHA:2521
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Diffuse palmoplantar hyperkeratosis, Acrocyanosis	ORPHA:86918
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory oral frenulum...	OMIM:277170
Keipert Syndrome	Short distal phalanx of finger, Hypoplasia of the maxilla, Broad thumb, Broad distal phalanx of f...	ORPHA:2662
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Atelosteogenesis, Type Iii	Hypoplasia of the maxilla, Rhizomelia, Tombstone-shaped proximal phalanges, Radial bowing, Sandal...	OMIM:108721
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Malar flattening, Split hand, Cleft palate, Split foot	OMIM:183700
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac...	ORPHA:93333
Cranioectodermal Dysplasia 1	Clinodactyly, Anodontia, Broad distal phalanges of all fingers, Ectodermal dysplasia, Everted low...	OMIM:218330
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Neonatal death, Hand polydactyly, Tracheoesophageal fistula, Esophageal atresia, A...	OMIM:314390
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Equinovarus deformity, Respiratory distress, Elbow flexion contracture...	ORPHA:1143
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Micrognathia, Genu valgum, Hip contracture, Pes planus, Flattened epiphysis, Advan...	OMIM:618363
Maxillonasal Dysplasia	Short distal phalanx of finger, Hypoplasia of the maxilla, Tooth agenesis, Open bite, Microdontia...	ORPHA:1248
Multiple Epiphyseal Dysplasia Type 4	Limitation of joint mobility, Radial bowing, Hypoplastic cervical vertebrae, Premature osteoarthr...	ORPHA:93307
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Arthralgia of the hip, Broad femoral neck, Hypopl...	OMIM:607078
Terminal Osseous Dysplasia	Toe clinodactyly, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg shortening, Mul...	OMIM:300244
Congenital Myopathy 10A, Severe Variant	Camptodactyly of finger, Respiratory distress, Talipes equinovarus, High palate, Cleft palate	OMIM:614399
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Aarskog-Scott Syndrome	Small hand, Finger syndactyly, Broad foot, Talipes, Pes planus, Everted lower lip vermilion, Shor...	ORPHA:915
Chondrodysplasia With Joint Dislocations, Gpapp Type	Coronal craniosynostosis, Short toe, Knee dislocation, Micrognathia, Limited elbow extension, Nar...	OMIM:614078
Restrictive Dermopathy 2	Hypoplastic facial bones, Microretrognathia, Overtubulated long bones, Respiratory distress, Cyan...	OMIM:619793
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Rhizomelia, Limitation of joint mobility, Abnormal epiphysis morp...	ORPHA:3098
Mesomelia-Synostoses Syndrome	Synostosis of joints, Synostosis of carpal bones, Aplasia/Hypoplasia of the uvula, Abnormal tibia...	ORPHA:2496
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Toe syndactyly, Preaxial foot polydactyly, Split foot, Abnormal palate...	ORPHA:1540
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Radial bowing, Short tibia, Abnormal ...	OMIM:127300
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to...	OMIM:602080
Autosomal Recessive Omodysplasia	Rhizomelia, Micromelia, Long philtrum, Elbow dislocation, Micrognathia, Abnormal femur morphology...	ORPHA:93329
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Lujan-Fryns Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodactyly of finger...	ORPHA:776
Orofaciodigital Syndrome Type 10	Short tibia, Fibular aplasia, Cleft soft palate, Micrognathia, Tarsal synostosis, Mesomelic arm s...	ORPHA:2756
Pfeiffer Syndrome Type 2	Deviation of the thumb, Small hand, Toe syndactyly, Limitation of joint mobility, Tracheomalacia,...	ORPHA:93259
Heart-Hand Syndrome Type 2	Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder mor...	ORPHA:1350
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Long philtrum, Micrognathia, Malar flattening, Abnormal metacarpal morphology, Osteoarthritis, Gl...	ORPHA:166100
Acrorenal Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of...	ORPHA:971
Hypoglossia With Situs Inversus	Microglossia, Respiratory distress, Micrognathia, Narrow mouth, Hypodontia, High palate	OMIM:612776
Acrodysostosis	Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol...	ORPHA:950
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Arthrogryposis-like hand anomaly, Respiratory distress, Absent Achilles reflex, Paradoxical respi...	OMIM:620011
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Micromelia, Joint stiffness, Femoral bowing, Excessive wrinkled skin, Bowing of...	ORPHA:1860
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Symphalangism of the thumb, Short toe, Long philtrum, Clinodactyly, Broad hallux, Thenar muscle a...	OMIM:620494
Nager Syndrome	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasia of the zygomatic bone, Jo...	ORPHA:245
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Joint contracture of the hand, Pes planus, Flattened epiphysis, Dislocated radial head, High pala...	OMIM:612350
Omodysplasia 1	Rhizomelia, Short tibia, Long philtrum, Limited elbow flexion, Limited knee flexion/extension, Li...	OMIM:258315
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Carpal osteolysis, Wrist swelling, Metacar...	OMIM:166300
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg...	ORPHA:199306
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Osteopenia, Hypoplasia of the maxilla, Abnormality of carpal bone ossification, Progeroid facial ...	OMIM:608154
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Abnormal epiphysis morphology, Long philtrum, Abnormal vertebral epiph...	ORPHA:90653
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal, Hypoplasia o...	OMIM:170390
Short Stature, Brussels Type	Delayed epiphyseal ossification, Calcification of cartilage, Microretrognathia, Macrocephaly	ORPHA:2867
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Erythema, Carpal synostosis, Micrognathia, Narrow mouth, Patellar ap...	OMIM:218600
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Cone-shaped epiphyses of the 3rd toe, Hallux valgus, Cone-shaped epiph...	ORPHA:397973
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress, Primary microcephaly	ORPHA:171703
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Alfadhel Syndrome	Retrognathia, Joint hypermobility, Smooth philtrum, Talipes equinovarus, Microcephaly, Thin vermi...	OMIM:620655
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Premature skin wrinkling, Split foot, Microcephaly, Orofa...	OMIM:601349
Weyers Ulnar Ray/Oligodactyly Syndrome	Mesomelia, Finger aplasia, Absent thumb, Cleft upper lip, Micrognathia, Proximal radial head disl...	OMIM:602418
Orofacial Cleft 13	Retrognathia, Micrognathia, Cleft soft palate, Malar flattening, Oligodontia	OMIM:613857
Duane-Radial Ray Syndrome	Aplasia of metacarpal bones, Pes planus, Small thenar eminence, Absent radius, Anal atresia, Synd...	OMIM:607323
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv...	ORPHA:166119
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Apnea, Narrow mouth, Micrognath...	OMIM:602483
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Congenital hip dislocation, Respiratory distress, Arachnodactyly, Multiple prenatal f...	OMIM:271225
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ...	ORPHA:2741
Cleidocranial Dysplasia 2	Osteopenia, Hypoplasia of the maxilla, Broad thumb, Short distal phalanx of finger, Aplastic clav...	OMIM:620099
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Broad phalanx, High pala...	OMIM:166250
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radioulnar synosto...	OMIM:134780
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Death in c...	OMIM:210710
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s...	ORPHA:2632
Oculocerebrofacial Syndrome, Kaufman Type	High, narrow palate, Retrognathia, Abnormal lip morphology, Respiratory distress, Long foot, Abno...	ORPHA:2707
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Hypoplastic ilia, Rhizomelia, Metaphyseal cupping, Severe limb shortening, Radial bowing, Microme...	OMIM:151210
Microphthalmia With Limb Anomalies	Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, P...	ORPHA:1106
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Seizures, Benign Familial Infantile, 1	Apnea, Cyanosis	OMIM:601764
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Cleft soft palate, Microgn...	OMIM:142900
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Hypop...	OMIM:252100
Spondyloepiphyseal Dysplasia Congenita	Bifid uvula, Hypoplasia of the odontoid process, Respiratory distress, Limited hip movement, Dela...	OMIM:183900
Robinow Syndrome, Autosomal Dominant 2	Broad thumb, Clinodactyly, Cleft soft palate, Micrognathia, Oligodontia, Thin upper lip vermilion...	OMIM:616331
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the ...	ORPHA:1856
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Acro-Renal-Ocular Syndrome	Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Aplasia/Hypoplasia of the r...	ORPHA:959
Agnathia-Otocephaly Complex	Microglossia, Tracheomalacia, Respiratory distress, Aglossia, Micrognathia, Narrow mouth, Mandibu...	OMIM:202650
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Ulnar-Mammary Syndrome	Hypoplastic scapulae, Short 5th toe, Absent radius, Anal atresia, Short 5th finger, Hypodontia, P...	OMIM:181450
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Joint stiffness,...	ORPHA:1275
Tetrasomy 5P	Long philtrum, Respiratory distress, Overlapping toe, Micrognathia, Cyanosis, Talipes equinovarus...	ORPHA:3309
Frontonasal Dysplasia 1	Joint contracture of the hand, Hypoplasia of the maxilla, Clinodactyly, Radial deviation of finge...	OMIM:136760
Meier-Gorlin Syndrome 1	Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndactyly, Microg...	OMIM:224690
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypoplasia of the maxilla, Long foot, Long palm, Macrocephaly, High palate, Mandibular prognathia	OMIM:300676
Ulbright-Hodes Syndrome	Abnormal forearm bone morphology, Respiratory distress, Fibular aplasia, Micrognathia, Narrow mou...	ORPHA:3404
Postsynaptic Congenital Myasthenic Syndromes	Shoulder girdle muscle weakness, Cyanosis, Triceps weakness, Abnormality of the musculature of th...	ORPHA:98913
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Downturned corners of mouth, Anteriorly placed anus, Tracheomalacia, Respiratory distress, Clinod...	OMIM:217980
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Broad distal phalanx of finger, Dental crowding, Delayed eruption of teeth, Microgna...	OMIM:300990
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Ectopic accessory finger-like appendage, Postaxial foot polydac...	ORPHA:2919
20P12.3 Microdeletion Syndrome	Hypoplasia of the maxilla, Broad thumb, Long philtrum, Narrow mouth, Malar flattening, Macrocepha...	ORPHA:261295
Dysostosis, Stanescu Type	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morpho...	ORPHA:1798
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Dental malocclusion, Contractures of the large joints, Respiratory distress, Microgna...	ORPHA:329178
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnormality of the epiphysis...	ORPHA:93316
Geroderma Osteodysplasticum	Abnormality of the dentition, Osteopenia, Hypoplasia of the maxilla, Periodontitis, Progeroid fac...	OMIM:231070
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Clubbing of toes, Micrognathia, Cyanosis, Single transverse palmar crease, Thin upper lip vermili...	ORPHA:3304
Hamel Cerebro-Palato-Cardiac Syndrome	Micrognathia, Narrow mouth, Malar flattening, Death in infancy, Arachnodactyly, Microcephaly, Cle...	ORPHA:93946
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Occipital Horn Syndrome	Bruising susceptibility, Long philtrum, Pelvic bone exostoses, Genu valgum, Limited elbow extensi...	OMIM:304150
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Microcephaly, Joint contracture	OMIM:617977
Pfeiffer Syndrome	Coronal craniosynostosis, Hypoplasia of the maxilla, Broad thumb, Dental crowding, Finger syndact...	OMIM:101600
Robinow Syndrome, Autosomal Recessive 2	Abnormality of the dentition, Broad thumb, Clinodactyly, Long philtrum, Prominent fingertip pads,...	OMIM:618529
Classic Glucose Transporter Type 1 Deficiency Syndrome	Progressive microcephaly, Central apnea, Cyanosis	ORPHA:71277
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Micrognathia	OMIM:300580
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy	OMIM:254120
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Pde4D Haploinsufficiency Syndrome	Micrognathia, Broad foot, Pes planus, Broad phalanx, Bilateral coxa valga, Short metacarpal, Hypo...	ORPHA:439822
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Ankle flexion contracture, Micrognathia, Knee flexion contracture, Primary microcephaly, Cyanotic...	ORPHA:284417
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, Small...	OMIM:268305
Cohen Syndrome	High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill...	OMIM:216550
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Poorly ossif...	ORPHA:1263
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Arthrogryposis mu...	OMIM:254210
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Respiratory distress, Joint hypermobil...	ORPHA:2759
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Micrognathia, Microcephaly, Thin vermilion border, Short philtrum	ORPHA:261304
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D...	OMIM:311300
Hereditary Methemoglobinemia	Microcephaly, Exertional dyspnea, Cyanosis, Lip discoloration	ORPHA:621
Say Syndrome	Short distal phalanx of finger, Micrognathia, Ulnar deviation of the 3rd finger, Microcephaly, Cl...	OMIM:181180
Myotubular Myopathy With Abnormal Genital Development	Retrognathia, Respiratory distress, Death in infancy, Neonatal death, Joint hypermobility, High p...	OMIM:300219
Choanal Atresia	Tracheomalacia, Respiratory distress, Cyanosis, Chronic sinusitis, Polydactyly, Craniosynostosis	ORPHA:137914
Ear-Patella-Short Stature Syndrome	Elbow dislocation, Micrognathia, Narrow mouth, Patellar aplasia, High, narrow palate, Hypoplasia ...	ORPHA:2554
Split-Hand/Foot Malformation 1	Finger aplasia, Clinodactyly, Broad hallux, Ectrodactyly, Foot oligodactyly, Split foot, Triphala...	OMIM:183600
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Arthrogryposis multiplex congenita, Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Pycnodysostosis	Small hand, Carious teeth, Acromelia, Hypoplastic iliac wing, Micrognathia, Delayed eruption of p...	ORPHA:763
Waardenburg Syndrome Type 3	Synostosis of carpal bones, Tracheomalacia, Camptodactyly of finger, Joint stiffness, Cutaneous f...	ORPHA:896
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Pfeiffer Syndrome Type 3	Small hand, Toe syndactyly, Limitation of joint mobility, Tracheomalacia, Finger syndactyly, Broa...	ORPHA:93260
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cervical verteb...	OMIM:114290
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna...	OMIM:215140
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Apnea, Short humerus, Polydactyly, Microcephaly, Orofacial cleft, Flexion c...	ORPHA:17
Martsolf Syndrome 1	Tooth malposition, Micrognathia, Talipes equinovarus, Pes planus, Broad fingertip, Finger joint h...	OMIM:212720
Mandibulofacial Dysostosis, Guion-Almeida Type	Slender finger, Preaxial hand polydactyly, Respiratory distress, Micrognathia, Malar flattening, ...	OMIM:610536
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Interphalangeal joint contracture of finger, Respiratory distress, Elb...	ORPHA:1145
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Progressive microcephaly, Long philtrum, Thin upper lip vermilion	OMIM:614741
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Long philtrum, Widely spaced teeth, Short lingual frenulum, Trident pelvis, Short humerus, Microd...	OMIM:619479
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi...	ORPHA:3312
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Long philtrum, Thick lower lip vermilion, Joint contracture of the 5th finger, Microcephaly, Prog...	OMIM:614407
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep philtrum, Bra...	OMIM:605282
8Q22.1 Microdeletion Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Limitation of joint mobility, Finger syn...	ORPHA:178303
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions, Cyanosis	ORPHA:137935
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Hypoplasia of the odontoid process, Limitation of joint mobility, Finger swe...	ORPHA:93284
Crisponi/Cold-Induced Sweating Syndrome 1	Carious teeth, Retrognathia, Long philtrum, Radial deviation of finger, Elbow flexion contracture...	OMIM:272430
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Genu valgum, Joint hypermobility, Microcephaly, Macrocephaly, Wide mouth,...	OMIM:617798
Radio-Renal Syndrome	High, narrow palate, Downturned corners of mouth, Retrognathia, Micromelia, Respiratory distress,...	ORPHA:3015
Arthrogryposis, Distal, Type 3	Bifid uvula, Congenital hip dislocation, Camptodactyly of finger, Ulnar deviation of the hand or ...	OMIM:114300
Hyperparathyroidism, Transient Neonatal	Osteopenia, Fractured rib, Metaphyseal spurs, Respiratory distress, Femoral bowing, Short ribs, S...	OMIM:618188
Van Den Ende-Gupta Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Micrognathia,...	OMIM:600920
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar f...	OMIM:241310
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Ulnar deviation of finger, Camptodactyly of finger, Abnormality of the...	ORPHA:1529
Microphthalmia, Syndromic 12	Retrognathia, Intestinal malrotation, Micrognathia, Neonatal death, Cleft palate	OMIM:615524
Orofaciodigital Syndrome X	Finger aplasia, Retrognathia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal b...	OMIM:165590
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo...	OMIM:201000
Congenital Myasthenic Syndrome	Congenital hip dislocation, Microretrognathia, Pes cavus, Narrow jaw, Cyanosis, Joint hypermobili...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Congenital hip dislocation, Microretrognathia, Pes cavus, Narrow jaw, Cyanosis, Joint hypermobili...	ORPHA:98914
Amish Lethal Microcephaly	Limitation of joint mobility, Micrognathia, Cleft soft palate, Death in infancy, Decreased skull ...	ORPHA:99742
Roberts-Sc Phocomelia Syndrome	Clinodactyly, Hyperplasia of the maxilla, Micrognathia, Abnormal metacarpal morphology, Absent ra...	OMIM:268300
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Narrow mouth, Humeroradial syn...	OMIM:251230
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Death in early adulthood, Open mouth, Pes planus, Everted lower lip ve...	ORPHA:192
Stüve-Wiedemann Syndrome	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Talipes equinovarus, Flexion...	ORPHA:3206
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Wrist hypermobility, Joint hypermobility, Hypodontia, Microcephaly, Hip dys...	ORPHA:544503
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Micromelia, Long philtrum, Respiratory distress, Short ribs, Postaxial polydact...	OMIM:617895
Aarskog-Scott Syndrome	Short 5th finger, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Clinodactyly, Cl...	OMIM:305400
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short 4th toe, Short humerus, Brachydactyly, Short lower limbs, Cone-shaped...	ORPHA:420794
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Open bite, Micrognathia, Genu valgum, Decreased skull ossifi...	ORPHA:1452
Bardet-Biedl Syndrome 16	Respiratory distress, Polydactyly	OMIM:615993
Diaphanospondylodysostosis	Tracheomalacia, Respiratory distress, Micrognathia, Absent in utero rib ossification, Absent in u...	OMIM:608022
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Bifid uvula, Limitation of joint mobility, Dumbbell-shaped femur, Sandal ga...	ORPHA:1427
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Rhizomelic arm shortening, Gingival overgrowth, Short humerus, Brachyd...	ORPHA:508542
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Abnormal epiphysis morphology, Respiratory distress, Prolonged n...	ORPHA:226313
Meier-Gorlin Syndrome 5	Hypoplasia of the maxilla, Clinodactyly, Long philtrum, Slender long bone, Hypoplasia of the capi...	OMIM:613805
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short distal phalanx of finger, Hypoplasia of the maxilla, Mandibular prognathia, Diastema, Furro...	OMIM:300534
Neuropathy, Congenital Hypomyelinating, 3	Hand clenching, Arthrogryposis multiplex congenita, Retrognathia, Abnormal foot morphology, Gingi...	OMIM:618186
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decrea...	OMIM:164900
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad fi...	ORPHA:2751
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Bifid uvula, Micrognathia, Cleft palate	OMIM:606164
Cardioacrofacial Dysplasia 1	Conical tooth, Hypoplasia of the maxilla, Diastema, Genu valgum, Postaxial polydactyly, Limb unde...	OMIM:619142
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Clinodactyly, Prominent scalp veins, Micrognathia, Narrow mouth, Reduced subcutaneou...	OMIM:264090
Orofaciodigital Syndrome Xix	Narrow palate, Carious teeth, Toe syndactyly, Downturned corners of mouth, Lobulated tongue, Retr...	OMIM:620107
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Macroglossia, High palate	ORPHA:254864
Chronic Pneumonitis Of Infancy	Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia	ORPHA:91359
Ollier Disease	Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromatosis, Abnormal m...	ORPHA:296
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Humerus varus, Esophagitis, Genu valgum, Pes planus, Abnormal...	ORPHA:198
Arterial Tortuosity Syndrome	Esophagitis, Arachnodactyly, Hip dislocation, Avascular necrosis of the capital femoral epiphysis...	ORPHA:3342
Acropectorovertebral Dysplasia	High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin...	ORPHA:957
Lowry-Maclean Syndrome	High, narrow palate, Talon cusp, Osteopenia, Hypoplasia of the maxilla, Downturned corners of mou...	ORPHA:2409
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Agenesis of permanent teeth, Cleft soft palate, Short h...	OMIM:216300
Gaucher Disease Type 2	Respiratory distress, Flexion contracture, Abnormal pattern of respiration	ORPHA:77260
Tarp Syndrome	Rocker bottom foot, Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Apnea, Microg...	ORPHA:2886
8Q24.3 Microdeletion Syndrome	Branchial cyst, Secondary microcephaly, Talipes, Pes planus, Short hallux, Cleft maxillary alveol...	ORPHA:508488
Double Outlet Right Ventricle	Intestinal malrotation, Narrow mouth, Cyanosis, Submucous cleft hard palate, Abnormality of carti...	ORPHA:3426
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Micrognathia, Acces...	OMIM:258860
Oculomaxillofacial Dysostosis	Tessier cleft, Abnormality of the dentition, Camptodactyly of finger, Micrognathia, Median cleft ...	ORPHA:1794
Oculofaciocardiodental Syndrome	Tooth malposition, Genu valgum, Radioulnar synostosis, Submucous cleft hard palate, Oligodontia, ...	ORPHA:2712
Schneckenbecken Dysplasia	Hypoplastic scapulae, Stillbirth, Macrocephaly, Malar flattening, Short ribs, Limb undergrowth, D...	OMIM:269250
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Respiratory distress, Primary microcephaly, Adducted thumb, Rocker bottom foot	ORPHA:89844
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Surfactant Metabolism Dysfunction, Pulmonary, 1	Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Dyspnea, Clubbing	OMIM:265120
Myopathy And Diabetes Mellitus	Respiratory distress, Shoulder girdle muscle weakness, Hyporeflexia of upper limbs, Achilles tend...	ORPHA:2596
Mandibulofacial Dysostosis With Alopecia	Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever...	OMIM:616367
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Progressive microcephaly, W...	OMIM:618737
Lethal Kniest-Like Dysplasia	Hypoplastic ilia, Flared metaphysis, Broad long bones, Abnormal cartilage morphology, Mesomelic/r...	ORPHA:2347
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hypoplasia of the maxilla, Broad thumb, Dental crowding, Micrognathia, Open mouth, Joint hypermob...	OMIM:309520
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Microcephaly, Anal atresia, Mandibular prognathia	ORPHA:93950
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Microglossia, Camptodactyly of finger, Micrognathia, Me...	ORPHA:2839
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Micrognathia, Abnormal femur morpholog...	ORPHA:3429
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Cyanosis	OMIM:263000
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Prominent scalp veins, Narrow mouth, Reduced subcutaneous adipose tissue, Synovitis,...	ORPHA:3455
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Aplasia...	ORPHA:485
W Syndrome	Upper lip pit, Broad uvula, Radial bowing, Clinodactyly, Elbow dislocation, Pes cavus, Submucous ...	ORPHA:2804
Cleft Velum	Hypoplasia of the maxilla, Cleft soft palate, Velopharyngeal insufficiency	ORPHA:99772
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:605809
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress	ORPHA:238329
High Altitude Pulmonary Edema	Cyanosis, Tachypnea, Orthopnea, Dyspnea, Hypoxemia	ORPHA:330012
Premature Aging Syndrome, Penttinen Type	Micrognathia, Flexion contracture of finger, Short foot, Hypoplasia of the maxilla, Tibial bowing...	OMIM:601812
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Apnea, Tented upper lip vermilion, Micrognathia, Hypoventilation, Polydacty...	ORPHA:314655
Van Maldergem Syndrome 1	Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Talipes equinovarus...	OMIM:601390
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, High iliac wing, Delayed eruption of teeth, Long philtr...	ORPHA:50814
Benign Familial Infantile Epilepsy	Apnea, Cyanosis	ORPHA:306
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Broad thumb, Broad hallux, Long philtrum, Wrist hypermobility, Joint h...	ORPHA:481152
Achondrogenesis, Type Ii	Microretrognathia, Long philtrum, Broad long bones, Abnormal foot morphology, Hypoplastic iliac w...	OMIM:200610
Osteopathia Striata-Cranial Sclerosis Syndrome	High, narrow palate, Bifid uvula, High iliac wing, Coarse metaphyseal trabecularization, Delayed ...	ORPHA:2780
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Carious teeth, Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Radioulnar synostosis...	ORPHA:536467
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Preaxial hand polydactyly, Secondary microcephaly, Micrognathia, Malar...	ORPHA:79113
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Velopharyngeal insufficiency, Long philtrum, Intestinal malrotation, Cutis marmorata, Submucous c...	OMIM:614701
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Exertional dy...	OMIM:610921
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Joint contracture of the hand, Respiratory distress, Knee contracture, Death in childhood, Death ...	OMIM:620278
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Retrognathia, Respiratory distress, Apnea, Narrow mouth, Open mouth,...	OMIM:608013
Cohen Syndrome	Finger syndactyly, Micrognathia, Open mouth, Genu valgum, Narrow palm, Arachnodactyly, High, narr...	ORPHA:193
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Microcephaly	ORPHA:26792
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Hypoplasia of the zygomatic bone, ...	ORPHA:989
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, Anteriorly placed anus, Tooth agenesi...	ORPHA:1555
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Hyp...	OMIM:257850
Congenital Myopathy 22B, Severe Fetal	Tapered toe, Dental crowding, Shoulder flexion contracture, Retrognathia, Slender long bone, Resp...	OMIM:620369
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation	OMIM:264270
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Immunodeficiency 95	Respiratory distress	OMIM:619773
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Hyperoxemia, Dyspnea, Tracheobronchomalacia	ORPHA:70589
Chitayat Syndrome	Tracheomalacia, Respiratory distress, Hallux valgus, Brachydactyly, Thick vermilion border	OMIM:617180
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Abnormality of the dentition, Small hand, Lower limb asymmetry, Long philtrum, Respi...	OMIM:300968
Laryngeal Abductor Paralysis	Cyanosis, Talipes equinovarus, Microcephaly	OMIM:150260
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita	OMIM:601809
Myhre Syndrome	Bifid uvula, Gingival cleft, Craniofacial hyperostosis, Hypoplasia of the maxilla, Unilateral cle...	ORPHA:2588
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Erythema, Angioedema, Swollen lip	ORPHA:100057
Prader-Willi Syndrome Due To Translocation	Small hand, Carious teeth, Clinodactyly, Overlapping toe, Micrognathia, Pes planus, Everted lower...	ORPHA:177907
Multiple Osteochondromas	Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Abnormal hand morp...	ORPHA:321
Pitt-Hopkins Syndrome	Tooth malposition, Small hand, Esophagitis, Pes planus, Broad fingertip, Abnormal pattern of resp...	ORPHA:2896
Dental Anomalies And Short Stature	Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta...	OMIM:601216
Shprintzen-Goldberg Syndrome	High, narrow palate, Osteopenia, Hypoplasia of the maxilla, Retrognathia, Elbow dislocation, Camp...	ORPHA:2462
Meckel Syndrome 14	Postaxial foot polydactyly, Microretrognathia, Retrognathia, Micrognathia, Cyanosis, Decreased ca...	OMIM:619879
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Small hand, Prominent fingertip pads, Long philtrum, Anteriorly placed anus,...	OMIM:612863
Craniofaciofrontodigital Syndrome	Osteopenia, Long philtrum, Premature skin wrinkling, Respiratory distress, Gingival overgrowth, P...	ORPHA:363705
Craniosynostosis 2	Unicoronal synostosis, Cleft soft palate, Bicoronal synostosis, Triphalangeal thumb, Brachydactyl...	OMIM:604757
Distal Xq28 Microduplication Syndrome	Hypoplasia of the maxilla, Dental crowding, Clinodactyly, Thick lower lip vermilion, Open mouth, ...	ORPHA:293939
Acrodysostosis 1 With Or Without Hormone Resistance	Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Calvarial hyperostosis...	OMIM:101800
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Meier-Gorlin Syndrome 3	Hypoplasia of the maxilla, Microretrognathia, Tracheomalacia, Slender long bone, Patellar hypopla...	OMIM:613803
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Microretrognathia, Bruising susceptibility, Tooth agenesis, Joint hypermo...	OMIM:616229
Chromosome 17Q12 Duplication Syndrome	Broad thumb, Micrognathia, Cleft soft palate, Smooth philtrum, Esophageal atresia, Brachydactyly	OMIM:614526
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, 2-3 toe syndactyly, Long fingers, High palate, Flexion contracture, Ta...	OMIM:218000
Shprintzen-Goldberg Craniosynostosis Syndrome	Genu recurvatum, Osteopenia, Joint contracture of the hand, Hypoplasia of the maxilla, Dental mal...	OMIM:182212
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Triceps weakness, Microcephaly, Calf muscle hypertrophy, Thigh hypertrophy,...	ORPHA:86812
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Talipes equinovarus, Short tibia, Short femur	OMIM:620306
Asbestos Intoxication	Oxygen desaturation on exertion, Cyanosis, Exertional dyspnea, Dyspnea, Hypoxemia, Clubbing of fi...	ORPHA:2302
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
X-Linked Centronuclear Myopathy	Respiratory distress, High palate	ORPHA:596
Microcephaly-Capillary Malformation Syndrome	Short distal phalanx of finger, Hypoplasia of the maxilla, Clinodactyly, Progressive microcephaly...	OMIM:614261
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteomalacia, Micrognathia, Bilateral single transverse palmar creases, Abnormal metacarpal morph...	ORPHA:2636
Treacher-Collins Syndrome	Open bite, Micrognathia, Narrow mouth, High palate, Rectovaginal fistula, Hypoplasia of the maxil...	ORPHA:861
Synaptic Congenital Myasthenic Syndromes	Hand muscle weakness, Respiratory distress, Hypoventilation, Triangular mouth, Limited wrist exte...	ORPHA:98915
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Long philtrum, Respiratory distress, Overlapping toe, Overlapping fingers, Tented upper lip vermi...	OMIM:619383
Beare-Stevenson Cutis Gyrata Syndrome	Bifid uvula, Narrow palate, Natal tooth, Anteriorly placed anus, Respiratory distress, Overlappin...	OMIM:123790
Marshall Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Long p...	ORPHA:560
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Van Maldergem Syndrome 2	Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Talipes equinovarus...	OMIM:615546
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Malar flattening, Abnormal palate morphology, Abnormal metacarpal morp...	ORPHA:93262
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Broad thumb, Finger syndactyly, Prominent crus of helix, Open bite, Cl...	ORPHA:794
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Weill-Marchesani Syndrome 1	Tooth malposition, Hypoplasia of the maxilla, Broad phalanges of the hand, Abnormal dental morpho...	OMIM:277600
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Bifid uvula, Conical tooth, Carious teeth, Hypoplasia of the maxill...	OMIM:129400
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Thick vermilion border, Clinodactyly...	ORPHA:228396
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Hydrolethalus	Bifid uvula, Gingival cleft, Unilateral cleft lip, Retrognathia, Micromelia, Micrognathia, Submuc...	ORPHA:2189
Intellectual Developmental Disorder, Autosomal Dominant 70	Hypoplasia of the maxilla, Retrognathia, Postnatal macrocephaly, Micrognathia, Malar flattening, ...	OMIM:620157
Succinic Acidemia	Respiratory distress	OMIM:600335
Acquired Methemoglobinemia	Respiratory distress, Hypoxemia, Dyspnea, Cyanosis	ORPHA:464453
Pachyonychia Congenita	Natal tooth, Oral leukoplakia, Palmoplantar keratoderma, Palmoplantar blistering, Respiratory dis...	ORPHA:2309
Trisomy 8Q	Camptodactyly of finger, Joint stiffness, Micrognathia, Abnormal oral frenulum morphology, Orofac...	ORPHA:1752
Coffin-Siris Syndrome 11	Bifid uvula, Small hand, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, High...	OMIM:618779
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip ve...	ORPHA:438216
Birk-Barel Syndrome	Bifid uvula, Microretrognathia, Tented upper lip vermilion, Reduced subcutaneous adipose tissue, ...	OMIM:612292
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Familial Osteodysplasia, Anderson Type	Tooth malposition, Aplastic clavicle, Carious teeth, Failure of eruption of permanent teeth, Bifi...	ORPHA:2769
Nablus Mask-Like Facial Syndrome	Abnormality of the dentition, Joint contracture of the hand, Hypoplasia of the maxilla, Retrognat...	OMIM:608156
Intellectual Developmental Disorder, Autosomal Recessive 68	Microcephaly, Hypoplasia of the maxilla, Pes planus	OMIM:618302
Congenital Fibrinogen Deficiency	Gingival bleeding, Bruising susceptibility, Volvulus, Subcutaneous hemorrhage, Cyanosis, Clubbing...	ORPHA:335
Moebius Syndrome	Aplasia of the pectoralis major muscle, Aplasia/Hypoplasia of the radius, Finger syndactyly, Apla...	ORPHA:570
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Short lingual frenulum, Cyanosis, Midgut malrotation, Osteoporosis, Cleft palate	ORPHA:2326
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis	ORPHA:2414
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Finger syndactyly, Elbow ankylosis, Abnormal metacarpal morphology,...	ORPHA:2658
Phocomelia, Schinzel Type	High, narrow palate, Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the ...	ORPHA:2879
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Slender finger, Respiratory distress, Microcephaly, Pes planus, Jaundice	OMIM:250940
Meier-Gorlin Syndrome 4	Genu recurvatum, Hypoplasia of the maxilla, Slender long bone, Thick lower lip vermilion, Microgn...	OMIM:613804
Brachycephaly, Trichomegaly, And Developmental Delay	Bifid uvula, Prominent fingertip pads, Thick lower lip vermilion, Open mouth, Submucous cleft har...	OMIM:617412
Breath-Holding Spells	Cyanosis	OMIM:607578
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Respiratory distress, Femoral bowing, Tibial bowing, Neonatal death, Palmoplantar cut...	OMIM:616482
Cryptogenic Organizing Pneumonia	Respiratory distress, Hypoxemia, Dyspnea, Cyanosis	ORPHA:1302
Infant Acute Respiratory Distress Syndrome	Cyanosis, Tachypnea, Nasal flaring, Hypoxemia	ORPHA:70587
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of finger, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Hypopl...	ORPHA:79345
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Ankyloglossia, Limited hip movement, Micrognathia, Short lingual fr...	ORPHA:740
Cowden Syndrome 5	Colonic diverticula, Hypoplasia of the maxilla, Subcutaneous lipoma, Furrowed tongue, Micrognathi...	OMIM:615108
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Anal atresia, Flat acetabular roof, Cleft lip, Hamartoma of tongue, Fib...	OMIM:616300
Schilbach-Rott Syndrome	2-3 toe cutaneous syndactyly, Bifid uvula, Clinodactyly, Micrognathia, Narrow mouth, Submucous cl...	OMIM:164220
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Microcephaly, Exertional dyspnea, Cyanosis	OMIM:250800
Raine Syndrome	Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Micrognathia, Narrow mouth, Protrud...	OMIM:259775
Microcephaly 30, Primary, Autosomal Recessive	Tracheal stenosis, Cleft soft palate, Thin upper lip vermilion, Primary microcephaly, Clinodactyl...	OMIM:620183
Andersen-Tawil Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Small hand, Dental crowding, Persistence...	ORPHA:37553
Apert Syndrome	Bifid uvula, Hypoplasia of the maxilla, Toe syndactyly, Broad thumb, Delayed eruption of teeth, F...	ORPHA:87
Branchiogenic-Deafness Syndrome	Short distal phalanx of finger, Branchial fistula, Branchial cyst, Abnormal foot morphology, Subm...	OMIM:609166
Congenital Diaphragmatic Hernia	Respiratory distress, Intestinal malrotation, Hypoxemia	ORPHA:2140
Spastic Paraplegia 16, X-Linked	Short distal phalanx of finger, Hypoplasia of the maxilla	OMIM:300266
Weill-Marchesani Syndrome 2	Tooth malposition, Hypoplasia of the maxilla, Broad phalanges of the hand, Short finger, Elbow fl...	OMIM:608328
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Microglossia, Narrow mouth, Mandibular aplasia	ORPHA:990
Microlissencephaly-Micromelia Syndrome	Micromelia, Long philtrum, Respiratory distress, Secondary microcephaly, 11 pairs of ribs, Bilate...	ORPHA:50810
Al-Gazali Syndrome	Osteopenia, Broad distal phalanx of finger, Proximal radio-ulnar synostosis, Micrognathia, Wrist ...	OMIM:609465
Obesity-Hypoventilation Syndrome	Cyanosis, Hypoventilation	OMIM:257500
Oromandibular Dystonia	Respiratory distress, Abnormality of the temporomandibular joint, Abnormal mandible morphology, A...	ORPHA:93958
Branchioskeletogenital Syndrome	Bifid uvula, Abnormality of the dentition, Carious teeth, Hypoplasia of the maxilla, Downturned c...	ORPHA:1299
Pulmonary Alveolar Proteinosis, Acquired	Dyspnea, Cyanosis, Hypoxemia, Clubbing	OMIM:610910
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Metaphyseal dysplasia, Femoral bowing, Limited elbow extension, Knee ...	OMIM:618019
Esophageal Atresia	Barrett esophagus, Cleft lip, Clinodactyly, Respiratory distress, Intestinal malrotation, Esophag...	ORPHA:1199
Dravet Syndrome	Tibial torsion, Pes valgus, Limited knee extension, Pes planus, Cyanotic episode	ORPHA:33069
Loeys-Dietz Syndrome 5	Cleft soft palate, Reduced subcutaneous adipose tissue, Arachnodactyly, Eosinophilic infiltration...	OMIM:615582
Anaplastic Thyroid Carcinoma	Respiratory distress, Laryngotracheal stenosis, Tracheoesophageal fistula, Dyspnea	ORPHA:142
Idiopathic Pulmonary Fibrosis	Acrocyanosis, Orthodeoxia, Exertional dyspnea, Clubbing of fingers	ORPHA:2032
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Apnea, Cyanosis, Protruding tongue, Microcephaly	OMIM:619580
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Cowden Syndrome 6	Colonic diverticula, Hypoplasia of the maxilla, Subcutaneous lipoma, Furrowed tongue, Micrognathi...	OMIM:615109
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Malaria	Respiratory distress	ORPHA:673
Myhre Syndrome	Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Narrow mouth...	OMIM:139210
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Microcephaly, Tapered finger, Short humerus, Short femur	OMIM:618367
Shwachman-Diamond Syndrome 1	Proximal femoral epiphysiolysis, Respiratory distress, Metaphyseal sclerosis, Proximal femoral me...	OMIM:260400
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Joint stiffness, Acrocyanosis	ORPHA:2400
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe...	OMIM:620076
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Microcephaly, Death in childhood	OMIM:615597
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Coronal craniosynostosis, Short distal p...	ORPHA:2095
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, High palate, Death in infancy, Irregular respiration	OMIM:604377
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta, Hip dislocation, Thin metacarpal cortices, Joint hypermobility, Bowed ...	OMIM:616507
Crouzon Syndrome	Hypoplasia of the maxilla, Narrow palate, Multiple suture craniosynostosis	ORPHA:207
X-Linked Intellectual Disability, Porteous Type	Hypoplasia of the maxilla, Short philtrum, Mandibular prognathia	ORPHA:93945
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Block vertebrae, Hypoplasia of the odontoid process, Failure of eruption of...	OMIM:272460
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Acetabular dysplasia, Death in childhood, Flared iliac wing, Microcephaly, ...	OMIM:617303
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Malar flattening, Macrocephaly, Hip dislocation, Coxa valga	OMIM:109120
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Velopharyngeal insufficiency, Clinodactyly, Overlapping toe, Micrognathia, Radiou...	OMIM:154400
Fibrous Dysplasia Of Bone	Osteomalacia, Abnormal tibia morphology, Abnormality of the sphenoid sinus, Bowing of the long bo...	ORPHA:249
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Microcephaly, Flexion contracture	OMIM:618201
Severe Acute Respiratory Syndrome	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:140896
Cerebrofacioarticular Syndrome	Osteopenia, Anal stenosis, Hypoplasia of the maxilla, Caudal appendage, Tracheomalacia, Anteriorl...	ORPHA:314679
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Absent thumb, Retrognathia, Elbow flexion contracture, Hypoplastic pelvis, ...	OMIM:618022
Vertebral Hypersegmentation And Orofacial Anomalies	Unilateral cleft lip, Micrognathia, Submucous cleft hard palate, Joint hypermobility, Unilateral ...	OMIM:619122
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Hand clenching	ORPHA:240103
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Partial duplica...	OMIM:101400
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Microcephaly, Abnormal...	ORPHA:86822
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Nocturnal hypoventilation, Death in childhood, Hand muscle atrophy, Ankle c...	OMIM:211530
Coffin-Lowry Syndrome	Cutis marmorata, Open mouth, Pes planus, Everted lower lip vermilion, High palate, Short metacarp...	OMIM:303600
Familial Nasal Acilia	Respiratory distress, Dyspnea, Chronic sinusitis	ORPHA:922
Hypoadrenocorticism, Familial	Apnea, Cyanosis	OMIM:240200
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Tachypnea, Dyspnea	OMIM:267450
Isolated Right Ventricular Hypoplasia	Cyanosis, Clubbing, Dyspnea, Hypoxemia, Pedal edema	ORPHA:439
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Respiratory distress, Osteomyelitis, Stomatitis, Osteolysis, Fused cervi...	OMIM:612852
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental crowding...	OMIM:123500
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:263400
Distal Deletion 19P	Hypoplasia of the maxilla, Joint hypermobility, Arachnodactyly, Long toe, Short philtrum, Cleft p...	ORPHA:96129
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Flexion contracture	OMIM:616733
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Limitation of joint mobility, Recurrent aphthous stomatitis, Intestinal obstruction, Ar...	ORPHA:343
Doors Syndrome	Equinovarus deformity, Short lingual frenulum, Open mouth, Aplasia/Hypoplasia of the phalanges of...	ORPHA:79500
Kagami-Ogata Syndrome	Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Limb undergrowth, Long fing...	OMIM:608149
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of th...	OMIM:609638
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Malar flattening, Fibular hypoplasia, Short r...	ORPHA:3144
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Microcephaly, High palate	OMIM:619272
Pleural Mesothelioma	Respiratory distress, Dyspnea	ORPHA:50251
Tetanus	Respiratory distress, Tachypnea, Trismus, Stiff neck	ORPHA:3299
Laryngomalacia	Respiratory distress	OMIM:150280
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Micrognathia, Hypoplasia of the maxilla, Enterocolitis, Death in childhood	OMIM:301108
3-Methylglutaconic Aciduria, Type Viib	Brachioradialis areflexia, Rhizomelia, Respiratory distress, Micrognathia, Microcephaly, Trismus,...	OMIM:616271
Frontorhiny	Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger, Brachydactyly, Bifid ton...	ORPHA:391474
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Everted lower lip vermilion, High...	OMIM:608670
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Abnormal bone ossification, Metaphyseal dysplasia, Genu varum, Multiple joint contractures, Macro...	ORPHA:99646
Hereditary Bullous Dystrophy, Macular Type	Microcephaly, Tapered finger, Acrocyanosis, Short finger	ORPHA:1867
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Respiratory distress, Aplasia of the epiglottis, Median cleft upper lip, H...	OMIM:617088
Spondylometaphyseal Dysplasia, Algerian Type	Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v...	OMIM:184253
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress	OMIM:619466
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Cleft palate	ORPHA:2736
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Rubinstein-Taybi Syndrome 1	Broad thumb, Hypoplastic iliac wing, Micrognathia, Narrow mouth, Talipes equinovarus, Pes planus,...	OMIM:180849
Hereditary Angioedema Type 1	Dermatographic urticaria, Respiratory distress, Intestinal edema, Dyspnea, Abnormal soft palate m...	ORPHA:100050
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress	OMIM:613561
Cree Impaired Intellectual Development Syndrome	Cutaneous finger syndactyly, Micrognathia, Cleft soft palate, Aplasia/Hypoplasia of the ribs, Roc...	OMIM:606851
Diamond-Blackfan Anemia 10	Respiratory distress, Micrognathia, Malar flattening, Cleft palate	OMIM:613309
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Respiratory distress, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, Upper lim...	OMIM:620375
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Mogs-Cdg	Retrognathia, Respiratory distress, Overlapping fingers, Apnea, Hypoventilation, High palate	ORPHA:79330
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress	ORPHA:254875
Adnp Syndrome	Broad thumb, Sandal gap, Broad hallux, Thick lower lip vermilion, Respiratory distress, Single tr...	ORPHA:404448
Autoimmune Pulmonary Alveolar Proteinosis	Dyspnea, Cyanosis, Hypoxemia, Clubbing	ORPHA:747
Tricuspid Atresia	Cyanosis	ORPHA:1209
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Cowden Syndrome 1	Colonic diverticula, Hypoplasia of the maxilla, Subcutaneous lipoma, Furrowed tongue, Micrognathi...	OMIM:158350
Pulmonary Capillary Hemangiomatosis	Cyanosis, Exertional dyspnea, Dyspnea, Hypoxemia, Pedal edema, Clubbing of fingers	ORPHA:199241
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Perineal fistula, Rectal atresi...	ORPHA:2753
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Cyanosis, Tachypnea, Dyspnea, Hypoxemia, Clubbing	OMIM:610913
Recurrent Respiratory Papillomatosis	Respiratory distress, Tachypnea, Dyspnea, Tracheomalacia	ORPHA:60032
Arboleda-Tham Syndrome	Enlarged proximal interphalangeal joints, Genu valgum, Narrow mouth, Pes planus, Short hallux, Ge...	OMIM:616268
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Absent radius, A...	OMIM:263650
Hsd10 Disease, Infantile Type	Microcephaly, Cyanosis	ORPHA:391428
Elsahy-Waters Syndrome	Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, Hypoplasia of t...	OMIM:211380
Acute Lung Injury	Respiratory distress, Tachypnea, Dyspnea, Hypoxemia	ORPHA:178320
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Conical tooth, Cleft lip, Hypoplasia of the maxilla, Palmoplantar keratoderma, Selective tooth ag...	OMIM:106260
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Tachypnea, Hypoxemia	ORPHA:264675
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Narro...	ORPHA:96334
Goldberg-Shprintzen Syndrome	Hypoplasia of the maxilla, Small hand, Oligodontia, Aganglionic megacolon, Microcephaly, Everted ...	OMIM:609460
Acute Interstitial Pneumonia	Dyspnea, Tachypnea, Hypoxemia, Cyanosis	ORPHA:79126
Barber-Say Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Velopharyngeal insufficien...	OMIM:209885
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hypoplasia of the maxilla, Cleft upper lip, Macrocephaly, Overlapping toe, Gingival overgrowth, M...	OMIM:213980
Singleton-Merten Syndrome 1	Carious teeth, Shallow acetabular fossae, Hypoplastic distal radial epiphyses, Genu valgum, Talip...	OMIM:182250
Laryngotracheoesophageal Cleft	Dyspnea, Cyanosis	ORPHA:2004
Isolated Arrhinia	Respiratory distress, Absent nasal septal cartilage, Hypoplasia of the nasal bone, Tessier cleft	ORPHA:1134
Slc35A1-Cdg	Respiratory distress, Subcutaneous hemorrhage, Hypoxemia	ORPHA:238459
Stt3B-Cdg	Respiratory distress, Microcephaly	ORPHA:370924
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy, Cyanosis, Microcephaly	OMIM:618426
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Retrognathia, Cleft soft palate, Smooth philtrum, Deep palmar crease, Adducted thumb, Primary mic...	ORPHA:293725
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Stickler Syndrome	Open bite, Micrognathia, Genu valgum, Arachnodactyly, Short hard palate, Hip dislocation, Protrus...	ORPHA:828
Farber Disease	Short toe, Abnormal foot morphology, Respiratory distress, Short finger, Abnormality of the wrist...	ORPHA:333
Buerger Disease	Livedo reticularis, Acrocyanosis	ORPHA:36258
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Flexion contracture, Esophageal varix, Generalized abnormality of skin	ORPHA:367
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Meconium ileus, Knee flexion contracture	OMIM:617239
Angelman Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Secondary microcephaly, Pr...	OMIM:105830
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Paroxysmal dyspnea	ORPHA:444013
Sepsis In Premature Infants	Petechiae, Cyanosis, Enterocolitis, Dyspnea, Jaundice, Nasal flaring, Purpura	ORPHA:90051
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Deformed humerus, Micrognathia, Mandibular condyle hypoplasia, Disl...	ORPHA:2975
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Tachypnea, Death in infancy	OMIM:614299
Congenital Lobar Emphysema	Respiratory distress	ORPHA:1928
Ramos-Arroyo Syndrome	Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Respiratory distress, Narrow mouth, Agan...	ORPHA:1051
Native American Myopathy	Bifid uvula, Congenital contracture, Downturned corners of mouth, Micrognathia, Submucous cleft s...	ORPHA:168572
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Tooth malposition, Small hand, Limitation of joint mobility, Overlapping toe, Pes planus, Patella...	ORPHA:480880
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Hypoplasia of the maxilla, Microdontia, Hypodontia, Everted lower lip vermilion, S...	OMIM:601499
Tularemia	Respiratory distress, Oral ulcer	ORPHA:3392
Dyskeratosis Congenita	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Oral leuko...	ORPHA:1775
Congenital Heart Block	Cyanosis	ORPHA:60041
Multiple Mitochondrial Dysfunctions Syndrome 7	Secondary microcephaly, Apnea, Open mouth, Gingival overgrowth, Cyanosis, Ankle clonus	OMIM:620423
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Everted upper lip verm...	OMIM:305100
Schinzel-Giedion Syndrome	Overlapping toe, Micrognathia, Overlapping fingers, Radioulnar synostosis, High palate, Short 1st...	ORPHA:798
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Anal stenosis, Microdontia, Hypodontia, Everted lower lip vermilion	ORPHA:782
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Micrognathia, Dec...	OMIM:617925
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Macrocephaly, Jaundice, Neonatal death	OMIM:231680
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Progressive microcephaly, Genu valgum, Cyanosis	ORPHA:488627
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Microcephaly	ORPHA:927
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae, Death in infancy	OMIM:602473
Intellectual Developmental Disorder, Autosomal Dominant 73	Ankyloglossia, Cleft soft palate, Bilateral single transverse palmar creases, Pes planus, Everted...	OMIM:620450
Avian Influenza	Respiratory distress, Tachypnea, Dyspnea, Hypoxemia, Miscarriage	ORPHA:454836
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Anteriorly placed anus, Respiratory distress, Episodic tachypnea, Tachypnea, Macrocephaly, Jaundice	ORPHA:26793
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Apnea, Cyanosis	OMIM:261680
Episodic Ataxia Type 1	Respiratory distress, Hand clenching, Calf muscle hypertrophy	ORPHA:37612
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, High palate, Exertional dyspnea, Death in childhood	OMIM:220110
Aicardi-Goutieres Syndrome 1	Erythema, Petechiae, Multiple gastric polyps, Microcephaly, Progressive microcephaly, Prolonged n...	OMIM:225750
Mgat2-Cdg	Osteopenia, Dental crowding, Respiratory distress, Open mouth, Progressive microcephaly, Brachyda...	ORPHA:79329
Zttk Syndrome	Bifid uvula, Abnormality of the dentition, Hypoplasia of the maxilla, Small hand, Downturned corn...	OMIM:617140
Carnitine-Acylcarnitine Translocase Deficiency	Microcephaly, Cyanosis, Sudden episodic apnea	ORPHA:159
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coronal craniosynostosis, Retrognathia, Respiratory distress, Contracture of the distal interphal...	ORPHA:83617
Pulmonary Arteriovenous Malformation	Cyanosis, Telangiectasia, Clubbing, Dyspnea, Hypoxemia	ORPHA:2038
Cutis Laxa, Autosomal Recessive, Type Iic	Hand clenching, Hypoplasia of the maxilla, Dental crowding, Long philtrum, Overlapping toe, Narro...	OMIM:617402
Isolated Atp Synthase Deficiency	Respiratory distress, Microcephaly	ORPHA:254913
Congenital Tracheomalacia	Intercostal retractions, Tracheomalacia, Apnea, Cyanosis, Tracheoesophageal fistula, Esophageal a...	ORPHA:95430
Rodrigues Blindness	Tooth malposition, Nasal flaring, Ectodermal dysplasia	OMIM:268320
Pulmonary Alveolar Microlithiasis	Oxygen desaturation on exertion, Stippled calcification in carpal bones, Cyanosis, Tachypnea, Exe...	ORPHA:60025
7Q31 Microdeletion Syndrome	Hypoplasia of the maxilla, Clinodactyly of the 2nd finger, Long philtrum, Prominent fingertip pad...	ORPHA:251061
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Tachypnea, Dyspnea, Hypoxemia	ORPHA:36238
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Palmoplantar keratoderma, Delayed eruption of teeth, Finger syndactyly, Widely spa...	ORPHA:1071
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Tachypnea, Hypoxemia	ORPHA:860
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress	OMIM:245590
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Finger clinodactyly, Ca...	ORPHA:306542
Peters-Plus Syndrome	Square pelvis bone, Micrognathia, Short lingual frenulum, Broad foot, Limited elbow movement, Sho...	OMIM:261540
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Microcephaly, Abnormality of cartilage...	ORPHA:2399
Nipah Virus Disease	Respiratory distress	ORPHA:99825
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis	OMIM:606763
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Ankyloglossia, Cleft soft palate, Open mouth, Reduced subcutaneous adipose tissue, Excessive wrin...	OMIM:619950
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Hypoplasia of the maxilla, Ulnar deviation of finger, Long philtrum, Camptod...	ORPHA:1101
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental malocclu...	OMIM:614188
Bacterial Toxic-Shock Syndrome	Respiratory distress, Osteomyelitis, Abnormality of the lower limb, Ecchymosis, Tachypnea, Arthri...	ORPHA:36234
Poems Syndrome	Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Metaphyseal sclerosis, P...	ORPHA:2905
Eosinophilic Fasciitis	Acrocyanosis, Arthritis	ORPHA:3165
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Atrial Septal Defect, Ostium Primum Type	Clubbing of toes, Cyanosis, Tachypnea, Exertional dyspnea, Dyspnea, Clubbing of fingers	ORPHA:99106
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Oxygen desaturation on exertion, Tachypnea, Hypoxemia	OMIM:610978
Eosinophilic Granulomatosis With Polyangiitis	Cutis marmorata, Intestinal obstruction, Arthritis, Sinusitis, Acrocyanosis, Purpura, Urticaria	ORPHA:183
Meconium Aspiration Syndrome	Respiratory distress, Hypoxemia	ORPHA:70588
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Microcephaly, Short ribs, Postaxial hand polydactyly	ORPHA:2519
Infantile Krabbe Disease	Shoulder girdle muscle weakness, Respiratory distress, Ankle clonus, Decreased head circumference...	ORPHA:206436
Ethylene Glycol Poisoning	Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Gastritis, Tachypnea	ORPHA:31826
Congenital Tracheal Stenosis	Meckel diverticulum, Duodenal stenosis, Respiratory distress, Abnormal stomach morphology, Cyanos...	ORPHA:141127
Primary Dystonia, Dyt4 Type	Respiratory distress, Open mouth	ORPHA:98805
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the maxilla	OMIM:167730
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Dyspnea	ORPHA:411703
Classical Ehlers-Danlos Syndrome	Poor wound healing, Talipes equinovarus, Pes planus, Fragile skin, Patellar dislocation, Dislocat...	ORPHA:287
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Micrognathia, Cleft soft palate, Submucous cleft soft palate, Microcephaly, Hypoxemia	ORPHA:2282
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan...	ORPHA:348
Congenital Disorder Of Deglycosylation 1	Small hand, Respiratory distress, Open mouth, Single transverse palmar crease, Microcephaly, Intr...	OMIM:615273
Structural Heart Defects And Renal Anomalies Syndrome	Microcephaly, Overlapping toe, Cyanosis, Death in infancy	OMIM:617478
Primary Hyperoxaluria	Abnormality of the dentition, Abnormal dental pulp morphology, Cutis marmorata, Generalized osteo...	ORPHA:416
Holoprosencephaly 9	Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Dental malocclusion, Downturned corners ...	OMIM:610829
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hypoplasia of the maxilla, Carious teeth, Xerostomia, Toe syndactyly, Selective tooth agenesis, C...	OMIM:129900
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Thyroid Lymphoma	Respiratory distress, Dyspnea	ORPHA:97285
Necrotizing Enterocolitis	Apnea, Cyanosis	ORPHA:391673
Primrose Syndrome	Genu valgum, Narrow mouth, Hip contracture, Torus palatinus, High palate, Hypoplasia of the maxil...	OMIM:259050
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal oral mucosa morphology, Abnormal fingertip morphology, Respiratory distress, Erosion of ...	ORPHA:79404
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Macroglossia, Apnea, Cyanosis	OMIM:261740
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Respiratory distress, Posteri...	OMIM:306955
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Limb-Mammary Syndrome	Bifid uvula, Cleft lip, Toe syndactyly, Oligodactyly, Malar flattening, Submucous cleft soft pala...	ORPHA:69085
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Carious teeth, Xerostomia, Hypoplasia of the maxilla, Selective tooth agenesis, Cl...	OMIM:604292
Chiari Malformation Type Ii	Cyanosis	OMIM:207950
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Ankle swelling, Angioedema, Swelling of proximal interphalangeal joints, Respirato...	ORPHA:3260
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress	OMIM:620166
Mitochondrial Phosphate Carrier Deficiency	Cyanosis	OMIM:610773
Hypohidrotic Ectodermal Dysplasia	Abnormality of the dentition, Hypoplasia of the maxilla, Xerostomia, Tooth agenesis, Abnormal den...	ORPHA:238468
Congenital Alveolar Capillary Dysplasia	Volvulus, Duodenal stenosis, Respiratory distress, Intestinal malrotation, Aganglionic megacolon,...	ORPHA:210122
Mitochondrial Complex I Deficiency, Nuclear Type 1	Apnea, Cyanosis, Death in infancy, Microcephaly, Progressive macrocephaly	OMIM:252010
Japanese Encephalitis	Genu recurvatum, Distal upper limb muscle weakness, Abnormal pattern of respiration, Respiratory ...	ORPHA:79139
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Knee flexion contracture, Talipes equinovarus, Wrist flexion contracture, C...	OMIM:618733
Histiocytoid Cardiomyopathy	Tachypnea, Cyanosis, Cleft palate	ORPHA:137675
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Death in adolescence, Prolonged neonatal jaundice, Jaundice	OMIM:615512
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telang...	OMIM:187300
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Double Outlet Left Ventricle	Tachypnea, Orofacial cleft, Cyanosis	ORPHA:3427
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Tachypnea	OMIM:237310
Holoprosencephaly 7	Hypoplasia of the premaxilla, Unilateral cleft lip, Median cleft palate, Bilateral cleft palate, ...	OMIM:610828
Microphthalmia With Linear Skin Defects Syndrome	Erythema, Retrognathia, Respiratory distress, Abnormal rectum morphology, Abnormal dental enamel ...	ORPHA:2556
Cardiogenic Shock	Dyspnea, Cyanosis, Orthopnea, Hypoxemia	ORPHA:97292
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Myasthenia Gravis	Dyspnea, Rheumatoid arthritis, Acrocyanosis	ORPHA:589
Complete Atrioventricular Septal Defect	Tachypnea, Intercostal retractions, Cyanosis	ORPHA:1329
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Fucosidosis	Abnormality of the dentition, Acrocyanosis, Vascular skin abnormality	ORPHA:349
Congenital Tricuspid Valve Dysplasia	Cyanosis, Tachypnea, Hypoxemia	ORPHA:555874
Hypermobile Ehlers-Danlos Syndrome	High, narrow palate, Hip dislocation, Dental crowding, Limitation of joint mobility, Bruising sus...	ORPHA:285
Telangiectasia, Hereditary Hemorrhagic, Type 2	Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia...	OMIM:600376
Coccidioidomycosis	Respiratory distress, Osteomyelitis, Abnormal long bone morphology, Abnormal metacarpal morpholog...	ORPHA:228123
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Central hypoventilation, Cyanosis, Hypoventilation, Brachydactyly, Everted lower lip vermilion, M...	ORPHA:293987
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Painless fractures due to injury, Respiratory distress, Autoamputation of digits, Increased susce...	OMIM:256810
Alternating Hemiplegia Of Childhood	Skewfoot, Downturned corners of mouth, Respiratory distress, Apnea, Exaggerated cupid's bow, Flus...	ORPHA:2131
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Osteomyelitis, Ileus, Abnormal intestine morphology, Gastritis, Colitis, Ur...	ORPHA:37042
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Smooth philtrum, Microcephaly, Jaundice, Glossitis, Stomatitis	ORPHA:79282
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Joint stiffness, Deep palmar crease, Thick vermilion border, Macroglossia, ...	ORPHA:505248
Nasolacrimal Duct Cyst	Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress	ORPHA:141083
Atrial Septal Defect, Ostium Secundum Type	Cyanosis, Exertional dyspnea, Orthopnea, Dyspnea, Pedal edema	ORPHA:99103
Bifid Uvula	Bifid uvula, Cleft lip, Submucous cleft soft palate	ORPHA:99771
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Mercury Poisoning	Respiratory distress, Dyspnea	ORPHA:330021
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Internally rotated shoulders, Cleft soft palate, Narrow mouth, Micrognathia, Hip contra...	OMIM:619503
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Carious teeth, Clinodactyly, Short thumb, Dislocated radial head, Pers...	ORPHA:2044
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Exertional dyspnea, Orthopnea, Osteoporosis, Macroglossia, Flexion contracture	ORPHA:365
Toxic Epidermal Necrolysis	Respiratory distress, Erythema, Tracheoesophageal fistula, Intestinal perforation	ORPHA:537
Treacher Collins Syndrome 1	Cleft soft palate, Narrow mouth, Micrognathia, Malar flattening, Wide mouth, Abnormal parotid gla...	OMIM:154500
Ablepharon Macrostomia Syndrome	Hypoplasia of the maxilla, Toe syndactyly, Hypoplasia of the zygomatic bone, Camptodactyly of fin...	ORPHA:920
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress	OMIM:615595
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:274150
Viss Syndrome	Cleft soft palate, Micrognathia, Genu valgum, Contracture of the proximal interphalangeal joint o...	OMIM:619472
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telangiectasia, Conjunctival te...	OMIM:610655
Branchiooculofacial Syndrome	Abnormality of the dentition, Short thumb, Cleft upper lip, Fusion of middle ear ossicles, Elbow ...	OMIM:113620
Acrofacial Dysostosis, Cincinnati Type	Hypoplasia of the maxilla, Cleft lip, Retrognathia, Median pseudocleft lip, Tracheobronchomalacia...	OMIM:616462
Lujo Hemorrhagic Fever	Respiratory distress, Purpura, Ecchymosis, Stiff neck	ORPHA:319213
Atrial Septal Defect, Coronary Sinus Type	Dyspnea, Exertional dyspnea, Cyanosis	ORPHA:99104
Oculopharyngodistal Myopathy 1	Respiratory distress, High palate, Hypercapnia	OMIM:164310
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Bruising susceptibility, Large joint hypermobilty, Cleft soft palate, Talipes equinov...	OMIM:614557
Brain-Lung-Thyroid Syndrome	Respiratory distress, Hypodontia, Microcephaly	ORPHA:209905
Generalized Arterial Calcification Of Infancy	Calcification of the auricular cartilage, Osteomalacia, Respiratory distress, Abnormal hip joint ...	ORPHA:51608
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Downturned corners of mouth, Single transverse palmar crease, Thin upper lip vermilion, Pes valgu...	ORPHA:466943
Unilateral Polymicrogyria	Microcephaly, Apnea, Cyanosis	ORPHA:268943
Diamond-Blackfan Anemia	Cleft lip, Absent thumb, Short thumb, Abnormality of the thenar eminence, Cleft soft palate, Micr...	ORPHA:124
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Ulnar deviation of the hand, Malar flattening	OMIM:122880
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Bifid uvula, Hypoplasia of the maxilla, Absent thumb, Downturned corners of mouth, Slender long b...	ORPHA:500150
Neuroblastoma	Respiratory distress, Pathologic fracture	ORPHA:635
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Genu valgum, Smooth philt...	OMIM:619321
Cryptococcosis	Respiratory distress, Osteomyelitis, Dyspnea, Osteolysis	ORPHA:1546
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea, Pedal edema	ORPHA:2299
Congenital Enterovirus Infection	Respiratory distress	ORPHA:292
Familial Dysautonomia	Acrocyanosis, Recurrent fractures, Osteolysis	ORPHA:1764
Absence Of The Pulmonary Artery	Cyanosis, Hypocapnia, Orthopnea, Dyspnea, Pedal edema	ORPHA:980
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Macrocephaly, Bone cyst, Osteolysis	ORPHA:2396
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Heterotaxy, Visceral, 7, Autosomal	Intestinal malrotation, Cyanosis	OMIM:616749
Listeriosis	Respiratory distress, Osteomyelitis, Stiff neck, Septic arthritis, Jaundice, Miscarriage	ORPHA:533
Biotinidase Deficiency	Respiratory distress, Hyperventilation, Apnea	ORPHA:79241
Q Fever	Respiratory distress, Osteomyelitis, Purpura	ORPHA:781
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Macroglossia	ORPHA:308552
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Retrognathia, Short 5th toe, Widely spaced teeth, 2-4 toe cutaneous syndactyly, Abnormal foot mor...	ORPHA:268261
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density, Cutis marmorata, Acrocyanosis	OMIM:259900
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Jaundice, Death in infancy	OMIM:617156
Criss-Cross Heart	Cyanosis	ORPHA:1461
Hardikar Syndrome	Unilateral cleft lip, Intestinal malrotation, Cleft soft palate, Bilateral cleft palate, Prolonge...	OMIM:301068
Cocaine Intoxication	Respiratory distress, Colitis, Tachypnea, Hyperventilation, Intestinal perforation	ORPHA:90068
Gaisböck Syndrome	Increased red blood cell count, Increased hematocrit, Increased mean corpuscular hemoglobin conce...	ORPHA:90041
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:3044
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Tooth malposition, Secondary microcephaly, Long hallux, Genu valgum, Open mouth, Arachnodactyly, ...	ORPHA:261537
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Exertional dyspnea, Hypoxemia, Clubbing, Pedal edema	ORPHA:97214
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Erythema, Respiratory distress, Narrow mouth, Microcephaly, Fragile skin	OMIM:614748
Kasabach-Merritt Phenomenon	Respiratory distress, Purpura, Hypopnea, Petechiae	ORPHA:2330
Axenfeld-Rieger Syndrome, Type 1	Anal stenosis, Hypoplasia of the maxilla, Oligodontia, Thin upper lip vermilion, Hypodontia, Shor...	OMIM:180500
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Aicardi-Goutières Syndrome	Cutis marmorata, Multiple joint contractures, Microcephaly, Arthritis, Prolonged neonatal jaundic...	ORPHA:51
Plague	Inflammation of the large intestine, Chapped lip, Respiratory distress, Ileitis, Enterocolitis, A...	ORPHA:707
Lymphatic Malformation 7	Respiratory distress	OMIM:617300
Craniofacial Microsomia 1	Block vertebrae, Hypoplasia of the maxilla, Cleft upper lip, Micrognathia, Branchial anomaly, Mal...	OMIM:164210
Mowat-Wilson Syndrome	Tooth malposition, Genu valgum, Open mouth, Pes planus, Everted lower lip vermilion, Syndactyly, ...	ORPHA:2152
Dermatomyositis	Erythema, Shawl sign, V-sign, Cutaneous photosensitivity, Gastrointestinal stroma tumor, Facial e...	ORPHA:221
Pmm2-Cdg	Osteopenia, Mandibular prognathia, Retrognathia, Long philtrum, Respiratory distress, Multiple jo...	ORPHA:79318
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Exertional dyspnea, Cyanosis	ORPHA:99050
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Dyspnea, Petechiae, Ecchymosis	ORPHA:340
Truncus Arteriosus	Aplasia/hypoplasia involving bones of the extremities, Tachypnea, Cyanosis	ORPHA:3384
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Hyperventilation, Apnea, Episodic respiratory distress	ORPHA:255210
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Tooth malposition, Secondary microcephaly, Long hallux, Genu valgum, Open mouth, Arachnodactyly, ...	ORPHA:261552
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Acrocyanosis	OMIM:223900
Colchicine Poisoning	Respiratory distress	ORPHA:31824
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Arthritis, Vasculitis in the skin, Acrocyanosis	ORPHA:48435
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Xerostomia, Oral synechia, Generalized abnormality of skin, Respiratory distress, Oral mucosal bl...	ORPHA:95455
Nocardiosis	Respiratory distress, Osteomyelitis, Dyspnea	ORPHA:31204
Gitelman Syndrome	Respiratory distress, Gout	ORPHA:358
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Intestinal malrotation, Mild microcephaly	ORPHA:2255
Goodpasture Syndrome	Tachypnea, Exertional dyspnea, Cyanosis	OMIM:233450
Tuberous Sclerosis Complex	Respiratory distress, Generalized abnormality of skin	ORPHA:805
Scimitar Syndrome	Respiratory distress	ORPHA:185
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
Congenital Total Pulmonary Venous Return Anomaly	Paroxysmal dyspnea, Respiratory distress, Cyanosis, Apneic episodes in infancy, Exertional dyspnea	ORPHA:99125
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis	ORPHA:216694
Leptospirosis	Respiratory distress, Jaundice	ORPHA:509
Alström Syndrome	Short toe, Tooth agenesis, Respiratory distress, Short finger, Dorsocervical fat pad, Recurrent s...	ORPHA:64
Ptosis, Hereditary Congenital 1		OMIM:178300

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 Zfhx4

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 Zfhx4.

No publications found that use IMPC mice or data for Zfhx4.

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MGI Allele	Allele Type	Produced
Zfhx4^em1(IMPC)J	Intra-exon deletion	Mice
Zfhx4^{tm113007(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Zfhx4^em2(IMPC)J	Exon Deletion	Mice

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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Gene: Zfhx4 MGI:2137668

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

Electroretinography 3

Combined SHIRPA and Dysmorphology

X-ray

X-ray

MicroCT E18.5

Eye Morphology

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Zfhx4 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data