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Gene: Zeb1 MGI:1344313

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
zinc finger E-box binding homeobox 1
Synonyms:
Zfhx1a,  3110032K11Rik,  [delta]EF1,  Nil2,  Tcf18,  MEB1,  AREB6,  Tw,  Tcf8,  Zfx1a,  Zfhep,  ZEB

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Zeb1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Zeb1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974

The table below shows human diseases predicted to be associated to Zeb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... OMIM:619924
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe... OMIM:618261
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... OMIM:618459
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... ORPHA:401942
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Micrognathia, Nasogastric tube feeding in infancy, Dyspnea, Temporomandibul... ORPHA:141152
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Immunodeficiency 102
Hepatomegaly, Increased circulating interleukin 6 concentration, Partial absence of specific anti... OMIM:301082
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Pierre Robin Syndrome
Neonatal respiratory distress, Micrognathia, Feeding difficulties in infancy, Pierre-Robin sequen... OMIM:261800
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Deafness-Oligodontia Syndrome
Vertigo, Oligodontia, Abnormality of the inner ear, Sensorineural hearing impairment ORPHA:3230
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Telecanthus
Anodontia, Bilateral cleft lip and palate OMIM:187350
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... OMIM:300400
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... OMIM:619281
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... OMIM:619510
Atelosteogenesis, Type I
Polyhydramnios, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Ne... OMIM:108720
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... OMIM:615513
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Schneckenbecken Dysplasia
Polyhydramnios, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydrops fetalis, ... OMIM:269250
Disorganization, Mouse, Homolog Of
Sensorineural hearing impairment, Cleft palate, Cleft upper lip OMIM:223200
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Platyspondylic Dysplasia, Torrance Type
Micromelia, Polyhydramnios, Abnormal carpal morphology, Hydrops fetalis, Narrow chest, Short palm... ORPHA:85166
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Accelerated skeletal maturation, Abnormal hand morphology, Metap... ORPHA:93307
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Fibrochondrogenesis 1
Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely... OMIM:228520
Syngnathia
Cleft palate OMIM:119550
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... OMIM:241600
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Sandal gap, Rhizomelia, Cervical kyphosis, Micrognat... OMIM:108721
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... ORPHA:2496
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac w... OMIM:210720
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... OMIM:607594
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi... OMIM:614078
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Dermoids Of Cornea
Corneal opacity OMIM:304730
Auriculocondylar Syndrome 2A
Respiratory distress, Dental crowding, Apnea, Micrognathia, Glossoptosis, Mandibular condyle apla... OMIM:614669
Achondroplasia
Respiratory distress, Limited hip extension, Polyhydramnios, Bowing of the legs, Generalized join... OMIM:100800
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... ORPHA:1452
Hypertelorism, Microtia, Facial Clefting Syndrome
Broad nasal tip, Micrognathia, Cleft upper lip, Facial cleft, Cleft palate, Microtia, Bifid nose,... OMIM:239800
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,... OMIM:223800
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Narrow greater sciatic notch, Hyp... OMIM:608940
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy OMIM:607541
Isolated Pierre Robin Syndrome
Neonatal respiratory distress, Micrognathia, Upper airway obstruction, Cleft palate, Glossoptosis ORPHA:718
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Femoral-Facial Syndrome
Maternal diabetes, Micrognathia, Coxa vara, Orofacial cleft, Vertebral segmentation defect, Aplas... ORPHA:1988
Acromesomelic Dysplasia 4
Mandibular prognathia, Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Sho... OMIM:619636
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Premature birth, Micromelia, Micrognathia, Accelerated skeletal maturatio... OMIM:215045
Kniest Dysplasia
Respiratory distress, Enlarged joints, Delayed epiphyseal ossification, Coxa vara, Tibial bowing,... OMIM:156550
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Oligodontia, Short palm, Abnormal vertebral segmentation and fusion,... ORPHA:90650
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... OMIM:206920
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, Hypoplasia of the... OMIM:600920
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, M... ORPHA:3035
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Polyhydramnios, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Ti... ORPHA:1427
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... ORPHA:440354
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Micrognathia, Narrow greater sciatic notch, High palate, Conductive hearing impairment, Joint con... OMIM:602471
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Hemivertebrae, Short palm, Thoracic he... OMIM:268310
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... ORPHA:169079
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip OMIM:600251
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Micromelia, Polyhydramnios, Narrow chest, Neonatal short-limb short stature... OMIM:151210
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Cleft ala nasi, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge, Convex nasal... ORPHA:2007
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... OMIM:224300
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
X-Linked Intellectual Disability, Abidi Type
Prominent nasal bridge, Non-midline cleft lip, Cleft palate, Protruding ear, Hearing impairment ORPHA:85273
Spondyloepimetaphyseal Dysplasia, Irapa Type
Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin... ORPHA:93351
Tarp Syndrome
Single transverse palmar crease, Micrognathia, Glossoptosis, Premature rupture of membranes, High... OMIM:311900
Frontometaphyseal Dysplasia 1
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... OMIM:305620
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... OMIM:277440
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Fetal akinesia sequence, Flexion contrac... OMIM:156530
Greenberg Dysplasia
Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Pa... OMIM:215140
Campomelic Dysplasia
Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cer... OMIM:114290
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Choanal atresia, Abnormal nasal morphology, Non-midline cleft ... ORPHA:1104
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... OMIM:200600
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... OMIM:137550
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... OMIM:164900
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Polyhydramnios, Beaded ribs, Micrognathia, Multiple prenatal fractures, Flexion contr... OMIM:616897
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t... OMIM:620045
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia ORPHA:329249
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Bowing of the legs, Micrognathia, Flexion contracture, Hydrops fetalis, Narrow chest,... ORPHA:1865
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Holzgreve Syndrome
Cleft palate, Cleft upper lip OMIM:236110
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... ORPHA:93314
Cousin Syndrome
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... OMIM:260660
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j... ORPHA:2741
Oculomaxillofacial Dysostosis
Median cleft lip, Underdeveloped nasal alae, Abnormality of the nose, Micrognathia, Abnormality o... ORPHA:1794
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Achondrogenesis Type 1B
Thickened nuchal skin fold, Severe short stature, Anteverted nares, Micromelia, Micrognathia, Abn... ORPHA:93298
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Osteoglophonic Dysplasia
Mandibular prognathia, Osteopenia, Respiratory distress, Hypoplasia of the maxilla, Short metatar... OMIM:166250
Stuve-Wiedemann Syndrome 1
Enlarged joints, Apnea, Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bow... OMIM:601559
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Osteogenesis Imperfecta, Type Ii
Beaded ribs, Multiple prenatal fractures, Tibial bowing, Premature birth, Nonimmune hydrops fetal... OMIM:166210
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Kyphosis, Wi... OMIM:259420
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... ORPHA:1106
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Achondrogenesis Type 1A
Thickened nuchal skin fold, Multiple rib fractures, Severe short stature, Anteverted nares, Recur... ORPHA:93299
Cenani-Lenz Syndrome
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Protruding ear, Foot olig... ORPHA:3258
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Micrognathia, Hemivertebrae, Orofacial cleft, Pectus carinatum, Hig... ORPHA:958
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Short stature, Premature birth, Abnormality of the philtrum, Abnormality of th... ORPHA:3268
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Short-Rib Thoracic Dysplasia 12
Edema, Bowing of the legs, Polyhydramnios, Lobulated tongue, Thoracic dysplasia, Narrow chest, Ho... OMIM:269860
Orofacial Cleft 14
Median cleft lip OMIM:615892
Kyphomelic Dysplasia
Micromelia, Micrognathia, Lateral clavicle hook, Tibial bowing, Femoral bowing, Pterygium, Short ... OMIM:211350
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... OMIM:264700
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... ORPHA:324575
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Polyhydramnio... ORPHA:96334
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... OMIM:619752
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Intestinal malrotation, Thin upper lip vermilion, Radial bowing, Thoracic hypoplasia, Postaxial p... OMIM:617866
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:172880
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Posteriorly rotated ears, Micrognathia, Dyspnea, Gingival fibromatosis, Gin... ORPHA:1832
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased c... OMIM:620210
Smith-Mccort Dysplasia 1
Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac crest serration... OMIM:607326
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... ORPHA:90652
Thanatophoric Dysplasia, Type I
Champagne cork sign, Polyhydramnios, Femoral bowing, Narrow chest, Neonatal death, Neonatal respi... OMIM:187600
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... OMIM:154780
Frontonasal Dysplasia 3
Posteriorly rotated ears, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Facial clef... OMIM:613456
Thanatophoric Dysplasia, Type Ii
Decreased fetal movement, Small abnormally formed scapulae, Micromelia, Polyhydramnios, Hypoplast... OMIM:187601
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Abnormal immunoglobulin level, ... ORPHA:276
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Shox-Related Short Stature
Short stature, Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm ... ORPHA:314795
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... ORPHA:98813
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Posteriorly rotated ears, Choanal atresia, Cleft upper lip, High, narrow palate, Depressed nasal ... OMIM:607597
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Crane-Heise Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormally ossified vertebrae, Toe syndacty... ORPHA:1512
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:199306
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Cleidocranial Dysplasia 1
Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of ... OMIM:119600
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate, Hearing impairment OMIM:120433
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Glossoptosis, Vert... OMIM:611209
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con... OMIM:271640
Osteogenesis Imperfecta, Type X
Osteopenia, Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint... OMIM:613848
Achondrogenesis, Type Ib
Micromelia, Edema, Hypoplastic ilia, Polyhydramnios, Breech presentation, Hydrops fetalis, Respir... OMIM:600972
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... OMIM:271650
Campomelic Dysplasia
Micrognathia, Tibial bowing, Femoral bowing, Narrow chest, Hypoplastic inferior ilia, Poorly ossi... ORPHA:140
Cleft Lip-Retinopathy Syndrome
Non-midline cleft lip ORPHA:1995
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem... OMIM:304120
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Odontochondrodysplasia 1
Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow... OMIM:184260
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Tarp Syndrome
Extramedullary hematopoiesis, Apnea, Single transverse palmar crease, Micrognathia, Glossoptosis,... ORPHA:2886
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... OMIM:601812
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... OMIM:602111
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Short stature, Rhizomelia, Micrognathia, Cleft hard palate, ... ORPHA:166016
Fibrochondrogenesis
Micromelia, Abnormal form of the vertebral bodies, Narrow chest, Broad ribs, Short stature, Antev... ORPHA:2021
Momo Syndrome
Delayed eruption of teeth, Short stature, Cutis marmorata, Underfolded helix, Abnormality of the ... ORPHA:2563
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short lingual frenulum, Micromelia, Hydrops fetalis, Fused teeth, Thoracic dysplasia, Narrow ches... OMIM:614091
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased... OMIM:614878
Perching Syndrome
Respiratory distress, High palate, Dysphagia, Feeding difficulties OMIM:617055
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Phocomelia, Schinzel Type
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Hydrops fetalis, Protru... ORPHA:2879
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Single transverse palmar crease, Micrognathia, Fetal akinesia sequence, Kypho... OMIM:611890
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Flexion contracture, Tibi... OMIM:143095
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... OMIM:615703
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Apnea, Accelerated s... OMIM:602535
Mesomelic Dysplasia, Kantaputra Type
Short stature, Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, A... ORPHA:1836
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Micrognathia, Clef... ORPHA:2015
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Cartilage-Hair Hypoplasia
Micromelia, Accelerated skeletal maturation, Heart block, Metaphyseal chondrodysplasia, Depressed... ORPHA:175
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Fryns Microphthalmia Syndrome
Macrotia, Abnormality of the ear, Facial cleft, Bilateral cleft lip and palate OMIM:600776
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... OMIM:243700
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micrognathia, Micro... ORPHA:628
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Cleft palate... OMIM:249710
Waardenburg Syndrome, Type 3
Mandibular prognathia, Scapular winging, Aganglionic megacolon, Camptodactyly of finger, Prominen... OMIM:148820
Cerebrooculonasal Syndrome
Low-set, posteriorly rotated ears, Facial cleft, Abnormal tragus morphology, High palate, Widely ... ORPHA:66625
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Edema of the dorsum of hands, F... OMIM:274000
Thomas Syndrome
Cleft palate, Cleft upper lip ORPHA:3316
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Burn-Mckeown Syndrome
Mandibular prognathia, Prominent nasal bridge, Choanal atresia, Micrognathia, Underdeveloped nasa... OMIM:608572
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Smooth philtrum, Ulnar deviation of the hand, Short stature, Posteriorly rotated ears, Proximal p... OMIM:620113
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... OMIM:249700
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... OMIM:605282
Mucolipidosis Ii Alpha/Beta
Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hy... OMIM:252500
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Orofacial cleft, Broad nasal tip ORPHA:85287
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Bulbous nose, Tongue... OMIM:258850
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Muenke Syndrome
Broad hallux, Hearing impairment, Capitate-hamate fusion, Sensorineural hearing impairment, Denta... OMIM:602849
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... ORPHA:276575
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Micromelia, High, nar... OMIM:122470
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Zechi-Ceide Syndrome
Wide nose, Underdeveloped nasal alae, Cleft upper lip, Wide nasal bridge, Cleft palate, Oligodont... OMIM:612916
Infantile Sialic Acid Storage Disease
Osteopenia, Anteverted nares, Premature birth, Splenomegaly, Abnormal thorax morphology, Vacuolat... OMIM:269920
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Dental crowding, Convex nasal ridge, Micrognathia, Generalized joint laxity, Tibial b... ORPHA:251028
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Achondrogenesis, Type Ii
Barrel-shaped chest, Microretrognathia, Absent vertebral body mineralization, Broad long bones, E... OMIM:200610
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
2q33.1 deletion syndrome
Feeding difficulties in infancy, High palate, Cleft palate DECIPHER:51
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... ORPHA:99772
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Hypocalcemic Vitamin D-Dependent Rickets
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Deformed rib cag... ORPHA:289157
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Weismann-Netter Syndrome
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... OMIM:112350
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Micrognathia, Flexion contracture, Hydrops fetalis, Talipes calcaneo... OMIM:265000
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Death in infancy, Lumbar hyperlordosis, Depressed na... OMIM:256050
Ruvalcaba Syndrome
Dental crowding, Proximal placement of thumb, Micromelia, Pectus carinatum, Narrow chest, Clinoda... ORPHA:3121
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Intrauterine growth retardation, Hypertrophic car... ORPHA:295
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Adrenal hypop... OMIM:308050
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Endocrine-Cerebroosteodysplasia
Single transverse palmar crease, Micromelia, Micrognathia, Adrenal hypoplasia, Polyhydramnios, Pr... OMIM:612651
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Spondylocarpotarsal Synostosis Syndrome
Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Verte... OMIM:272460
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
W Syndrome
Hypoplasia of the ulna, Pes planus, Radial bowing, Broad uvula, Depressed nasal bridge, Broad nas... ORPHA:2804
Orofaciodigital Syndrome Vi
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Conductive hearing impairment, Short ... OMIM:277170
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Polyphagia, Hypoglycemic seizures... ORPHA:276580
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Stiff neck, Micrognathia, Fetal akinesia sequence, Hydrops fetalis, Femoral b... OMIM:617022
Megaepiphyseal Dwarfism
Cleft palate OMIM:249230
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly... OMIM:616100
Osteogenesis Imperfecta, Type Viii
Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat... OMIM:610915
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Hi... ORPHA:957
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... OMIM:600081
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, Polyhydramnios, Short metatarsal, Narrow foot, Tibial bowing, Tarsometa... OMIM:600383
Fibular Aplasia-Complex Brachydactyly Syndrome
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal syno... ORPHA:2639
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ... OMIM:616050
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... OMIM:602196
Hemifacial Microsomia With Radial Defects
Non-midline cleft lip, Orofacial cleft, Cleft palate, Microtia, Atresia of the external auditory ... OMIM:141400
Intellectual Disability, Wolff Type
Microretrognathia, Bulbous nose, Macrotia, Thick lower lip vermilion, Wide nasal bridge, Orofacia... ORPHA:3080
Achondrogenesis
Thickened nuchal skin fold, Severe short stature, Anteverted nares, Micromelia, Micrognathia, Abn... ORPHA:932
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis... OMIM:612350
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Orofacial cleft ORPHA:3434
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Long thorax, Mesomelia, Convex nasal ... ORPHA:1277
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Anencephaly 2
Median cleft lip, Median cleft palate, Bifid nose, Cleft maxillary alveolar ridge OMIM:619452
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Anteverted nares, Hearing abnormality, Depressed nasal ridge, Wide ... ORPHA:2412
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Rocker bottom foot, Recurrent fractures, Micrognathia, Prominent nose, Talipes equ... ORPHA:453510
Diprosopus
External ear malformation, Non-midline cleft lip, Cleft palate, Abnormality of the nose ORPHA:1681
Developmental And Epileptic Encephalopathy 96
Death in infancy, Neonatal respiratory distress, Hydrops fetalis OMIM:619340
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Brachydactyly, Short stature, Hyperlordosis, Wide nasal... ORPHA:710
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior, Low-set ears ORPHA:436151
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Spina bifida occulta, Low-s... ORPHA:2311
Grant Syndrome
Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing OMIM:138930
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc... OMIM:608600
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Facial cleft, Low-set ears OMIM:601357
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance, Gait disturbance ORPHA:2398
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Melnick-Needles Syndrome
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... OMIM:309350
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Hydrops feta... ORPHA:45452
Momo Syndrome
Delayed eruption of teeth, Cutis marmorata, Underfolded helix, Delayed skeletal maturation, Thick... OMIM:157980
Ulbright-Hodes Syndrome
Respiratory distress, Maternal diabetes, Micrognathia, Ovoid thoracolumbar vertebrae, High palate... ORPHA:3404
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... ORPHA:83451
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Micrognathia, Accelerated skeletal maturation, Hydrops fetalis, Narrow chest, Neo... ORPHA:50945
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin... ORPHA:79085
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Abnormal pinna morphology, Intestinal malrotation, Underdeveloped nasal alae, Micrognathia, Deep ... ORPHA:77300
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, 2-5 finger cutaneous syndactyly, Toe syndactyly, Small hypothenar eminence, Ab... ORPHA:3246
Corneal Dystrophy, Lattice Type Iiia
Corneal erosion, Lattice corneal dystrophy OMIM:608471
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... OMIM:612526
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Ocular anterior segment dysge... OMIM:614195
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:311895
Split hand/foot malformation 1 (SHFM1)
Sensorineural hearing impairment, Median cleft lip, Cleft palate DECIPHER:46
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Hearing impairment,... ORPHA:93333
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metatarsal, Widely spaced teeth, Narrow chest, Short phalanx of finge... OMIM:617102
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Pectus carinatum, Downturned corners o... ORPHA:1507
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Acrorenal-Mandibular Syndrome
Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split... OMIM:200980
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... OMIM:601820
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Decreased fetal movement, Posteriorly rotated ears, Rocker bottom foot, Polyhyd... OMIM:618393
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Tibial bowing, Femoral bowing, Narrow chest, Neonatal death, Brain abscess,... OMIM:616482
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Enlarged joints, ... OMIM:313420
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ... OMIM:242860
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Polyhydramnios, Tracheobronchomalacia, Narrow chest,... ORPHA:56304
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Hypoplasia of the m... OMIM:156510
Aarskog-Scott Syndrome
Genu recurvatum, Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Sho... ORPHA:915
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Polyhydramnios, Knee ... ORPHA:3103
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Open bite, Depressed na... ORPHA:1248
Skraban-Deardorff Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Absent cupid's bow, Cleft palate, Feeding... OMIM:617616
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Lateral clavicle hook, Shoulder dislocation, Conductive hearing ... OMIM:171480
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... OMIM:241530
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Glass Syndrome
Dental crowding, Anterior tibial bowing, Apnea, Micrognathia, Long nose, Conical tooth, Oligodont... OMIM:612313
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Unilateral Ocular Duplication
Midline facial cleft, Median cleft lip, Cleft palate ORPHA:3374
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... OMIM:101200
Steel Syndrome
Carpal synostosis, Pes planus, Lumbar hyperlordosis, Short stature, Anteverted nares, Sensorineur... OMIM:615155
Turnpenny-Fry Syndrome
Mandibular prognathia, Dental crowding, Polyhydramnios, Prominent interphalangeal joints, Pectus ... OMIM:618371
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Short stature, Anteverted nares, Micrognathia, Kyphosis, Respi... ORPHA:3191
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Coxa vara, Tibial bowing, Pectus carinatum, Iron deficiency anemia, Reduced bone mineral density,... ORPHA:93315
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Death in infancy, Short stature, Rhizomelia, Micrognathia, Metaphyseal chondrodysplas... ORPHA:163966
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Short stature, Depressed nasal bridge, Abnormal rib morphology, Wide n... ORPHA:1513
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Facial cleft, Abnormal antihelix morphology, Abnorma... ORPHA:952
Arthrogryposis, Distal, Type 1A
Congenital hip dislocation, Single transverse palmar crease, Calcaneovalgus deformity, Knee flexi... OMIM:108120
Congenital Heart Block
Premature birth, Crackles, First degree atrioventricular block, Pericardial effusion, Gallop rhyt... ORPHA:60041
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholestero... OMIM:232700
Ellis-Van Creveld Syndrome
Pectus carinatum, Ectodermal dysplasia, Narrow chest, Hypoplastic iliac wing, Neonatal short-limb... OMIM:225500
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Schneckenbecken Dysplasia
Micromelia, Accelerated skeletal maturation, Lateral clavicle hook, Polyhydramnios, Lymphedema, A... ORPHA:3144
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Short stature, Camptodactyly of finger, Micrognathia, Hyperlordosis, Joint sti... ORPHA:1323
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost... OMIM:612961
Autosomal Recessive Multiple Pterygium Syndrome
Multiple pterygia, Micrognathia, Symphalangism affecting the phalanges of the hand, Orofacial cle... ORPHA:2990
Wt Limb-Blood Syndrome
Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Cryptor... OMIM:194350
Metaphyseal Dysplasia, Spahr Type
Progressive leg bowing, Metaphyseal dysplasia, Short stature, Bowing of the legs, Metaphyseal scl... OMIM:250400
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Cubitus valgus, Hearing abnormality, Humeroradial synostosis, Progressive fusi... OMIM:186570
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... OMIM:602875
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Knee flexion contractu... OMIM:114300
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion OMIM:619462
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce... OMIM:601349
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Accelerated skeletal maturation, ... ORPHA:439822
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Severe short stature, Abnormal dental ename... ORPHA:1005
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Bent Bone Dysplasia Syndrome 2
Osteopenia, Femoral bowing, Hypoplastic iliac wing, Short tibia, Depressed nasal bridge, Ulnar bo... OMIM:620076
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ... ORPHA:1791
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Elevated circu... ORPHA:435660
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Short stature, Progeroid facial appearance, Hypoplasia of the maxilla, Cubitus valgus... OMIM:608154
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Muenke Syndrome
Tarsal synostosis, High, narrow palate, Hydrocephalus, Sensorineural hearing impairment, Cone-sha... ORPHA:53271
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Hydrops Fetalis, Nonimmune
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Geroderma Osteodysplasticum
Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Hypoplasia of the max... OMIM:231070
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Spondyloepimetaphyseal Dysplasia, Missouri Type
Disproportionate short stature, Flared metaphysis, Knee osteoarthritis, Flattened epiphysis, Tibi... ORPHA:93356
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level OMIM:193670
Phenobarbital Embryopathy
Mandibular prognathia, Abnormal nasal base norphology, Unilateral cleft lip, Low-set ears, Malar ... ORPHA:1919
Genitopalatocardiac Syndrome
Cleft palate, Micrognathia, Low-set ears, Cleft upper lip OMIM:231060
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Parietal Foramina 1
Cleft palate, Cleft upper lip OMIM:168500
Epiphyseal Dysplasia, Multiple, 1
Delayed epiphyseal ossification, Generalized joint laxity, Irregular vertebral endplates, Short p... OMIM:132400
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft lip, Cleft palate ORPHA:1484
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, En... OMIM:307800
Scarf Syndrome
Low-set, posteriorly rotated ears, Craniosynostosis, Cryptorchidism, Wide nasal base, Abnormal fo... ORPHA:3134
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Ve... ORPHA:87
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Orofaciodigital Syndrome Viii
Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, High palate OMIM:300484
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased circulating Ig... OMIM:616005
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp... OMIM:215150
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contracture, Hypop... OMIM:611717
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Irregular vertebral endplat... OMIM:618363
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... ORPHA:40366
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... OMIM:609813
Meckel Syndrome, Type 8
Cleft upper lip, Abdominal distention, Depressed nasal ridge, Cleft palate, Low-set ears, Short nose OMIM:613885
Lethal Recessive Chondrodysplasia
Respiratory distress, Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized oste... ORPHA:1423
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle... ORPHA:2790
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Cleft palate, Respiratory insufficiency, Restrictive ventilatory defect, Re... OMIM:614399