Gene Summary

Name:
DNA methyltransferase 3B
Synonyms:
N/A

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal craniofacial morphology Dnmt3bem1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta vasculature Dnmt3bem1(IMPC)Mbp HOM E15.5 0.00
abnormal facial morphology Dnmt3bem1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Dnmt3bem1(IMPC)Mbp HOM   Early adult 0.00
hemorrhage Dnmt3bem1(IMPC)Mbp HET E15.5 0.00
hemorrhage Dnmt3bem1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Dnmt3bem1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Dnmt3bem1(IMPC)Mbp HOM E15.5 0.00
edema Dnmt3bem1(IMPC)Mbp HOM E15.5 0.00
cleft palate Dnmt3bem1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Dnmt3bem1(IMPC)Mbp HOM E15.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

Gross Morphology Embryo E14.5-E15.5

Images

34 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Human diseases caused by Dnmt3b 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 Dnmt3b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short nose, Anteverted nares, T lymphocytopenia, Increased circulating IgM level, Micrognathia, D... OMIM:242860
Icf Syndrome
Anemia, Decreased circulating antibody level, Micrognathia, Lymphopenia, Abnormality of neutrophi... ORPHA:2268
Facioscapulohumeral Dystrophy
Hyperlordosis ORPHA:269
Facioscapulohumeral Muscular Dystrophy 4, Digenic
OMIM:619478

The table below shows human diseases predicted to be associated to Dnmt3b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Wide anterior fon... OMIM:617241
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Death in childhood, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Abnormal vertebral morphology, Anteverted nares, Micrognathia, Short neck ORPHA:2015
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Abnormal B cell morphology, Decreased circulating antibody level, Agammaglobulinemia, Hypertelori... OMIM:616911
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Immunodeficiency 105
Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Deat... OMIM:619924
Immunodeficiency 52
Defective T cell proliferation, Death in childhood, Lymphadenopathy, Abnormal natural killer cell... OMIM:617514
Maxillonasal Dysplasia, Binder Type
Short nose, Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion, Depressed na... OMIM:155050
Teebi Hypertelorism Syndrome 2
Short nose, Delayed eruption of teeth, Wide anterior fontanel, Proptosis, Broad nasal tip, Hypert... OMIM:619736
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia, Cleft palate, Edema OMIM:616570
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Chromosome 16Q22 Deletion Syndrome
Wide anterior fontanel, Prominent metopic ridge, Micrognathia, Wormian bones, Cryptorchidism, Wid... OMIM:614541
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Wide anterior fontanel, Anteverted nares, Micrognathia, Hypertelorism, Depressed nasal bridge OMIM:618272
Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Wide anterior fontanel, Depressed nasal bridge, Decreased circulating T4 concentr... OMIM:275100
Rhizomelic Syndrome
Wide anterior fontanel, Micrognathia OMIM:268250
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neonatal death, Neutropenia OMIM:257100
Trigonocephaly 2
Metopic synostosis, Hypertelorism, Wide nasal bridge, Depressed nasal bridge OMIM:614485
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Wide anterior fontanel, Deeply set eye, Death in childhood, Death in infancy OMIM:619064
Acrocallosal Syndrome
Wide anterior fontanel, Cryptorchidism, Hypertelorism ORPHA:36
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Donnai-Barrow Syndrome
Short nose, Wide anterior fontanel, Proptosis, Hypertelorism, Depressed nasal bridge ORPHA:2143
Gomez-Lopez-Hernandez Syndrome
Short nose, Decreased response to growth hormone stimulation test, Wide anterior fontanel, Anteve... OMIM:601853
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Patchy distortion of vertebrae, Mandibular prognathia, S... ORPHA:1248
Peroxisome Biogenesis Disorder 11A (Zellweger)
Wide anterior fontanel, Large fontanelles, Anteverted nares, Depressed nasal bridge OMIM:614883
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Smith-Kingsmore Syndrome
Short nose, Wide anterior fontanel, Thrombocytopenia, Depressed nasal bridge, Cryptorchidism, Hyp... OMIM:616638
Six2-Related Frontonasal Dysplasia
Wide anterior fontanel, Broad nasal tip, Metopic synostosis, Hypertelorism, Premature posterior f... ORPHA:488437
Acrofacial Dysostosis Syndrome Of Rodriguez
Wide anterior fontanel, Micrognathia, Prominent nose, Deeply set eye, Hypertelorism, Wide nasal b... OMIM:201170
Lissencephaly, X-Linked, 2
Wide anterior fontanel, Decreased testicular size, Micrognathia, Prominent nasal bridge, Wide nas... OMIM:300215
Gillessen-Kaesbach-Nishimura Syndrome
Retrognathia, Wide anterior fontanel, Proptosis, Micrognathia, Convex nasal ridge, Hypertelorism,... OMIM:263210
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Fryns Microphthalmia Syndrome
Tessier cleft, Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft palate, Bilatera... OMIM:600776
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Cleft palate, Microphthalmia OMIM:600251
Immunodeficiency 76
Death in childhood, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Neonatal Adrenoleukodystrophy
Wide anterior fontanel, Primary adrenal insufficiency, Anteverted nares, Wide nasal bridge ORPHA:44
Peroxisome Biogenesis Disorder 3A (Zellweger)
Wide anterior fontanel, Wide nasal bridge OMIM:614859
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
20P13 Microdeletion Syndrome
Wide anterior fontanel, Deeply set eye, Hypertelorism, Prominent nasal bridge ORPHA:313781
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Anteverted nares, Death in infancy, Micrognathia, Cryptorchidism, Hyperte... OMIM:619135
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Short nose, Wide anterior fontanel, Anteverted nares, Micrognathi... ORPHA:163649
Peroxisome Biogenesis Disorder 7A (Zellweger)
Wide anterior fontanel, Large posterior fontanelle, Death in infancy OMIM:614872
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Short nose, Anteverted nares, Mandibular aplasia, Depressed nasal ridge, Micrognath... ORPHA:1832
Mitochondrial Complex I Deficiency, Nuclear Type 18
Wide anterior fontanel, Death in infancy OMIM:618240
Acrofrontofacionasal Dysostosis 2
Wide anterior fontanel, Hypertelorism, Proptosis, Wide nose OMIM:239710
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Wide anterior fontanel, Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Dec... ORPHA:95715
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Narrow mouth, High palate, Short stature, Growth delay ORPHA:2528
Larsen-Like Syndrome
Wide anterior fontanel, Dental malocclusion, Hypertelorism, Absent nasal bridge OMIM:608545
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Hypoplasia... OMIM:300400
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate ORPHA:2432
Sweeney-Cox Syndrome
Low hanging columella, Wide anterior fontanel, Choanal atresia, Bilateral cryptorchidism, Promine... OMIM:617746
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Non-Distal Duplication 10Q
Short nose, Scoliosis, Micrognathia, Convex nasal ridge, Depressed nasal bridge ORPHA:1695
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Wide anterior fontanel, Patent ductus arteriosus, Prominent nose, Wide nasal brid... OMIM:614886
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Heart And Brain Malformation Syndrome
Wide anterior fontanel, Anteverted nares, Prominent metopic ridge, Hypertelorism, Wide nasal brid... OMIM:616920
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Orofacial cleft, Microphthalmia, Anophthalmia OMIM:611638
Rhizomelic Syndrome, Urbach Type
Wide anterior fontanel, Micrognathia, Depressed nasal bridge ORPHA:3098
Transaldolase Deficiency
Anemia, Pancytopenia, Wide anterior fontanel, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly,... OMIM:606003
17Q21.31 Microduplication Syndrome
Anteverted nares, Micrognathia, Short nose ORPHA:217340
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Brachydactyly, Type B1
Delayed eruption of permanent teeth, Delayed cranial suture closure, Wide anterior fontanel OMIM:113000
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Wide anterior fontanel OMIM:601356
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Rhiny
Short nose, Anteverted nares OMIM:180360
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Obtuse angle of mandible, Wide anterior fontanel, Proptosis, Micrognathia, Wormian bones ORPHA:85184
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Wide anterior fontanel, Anemia of inadequate production, Persistence ... OMIM:613673
Mmep Syndrome
Orofacial cleft, Microphthalmia, Median cleft upper lip ORPHA:3434
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Wide anterior fontanel, Anteverted nares, Micrognathia, Patent ductus arteriosus, Cry... OMIM:217980
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Microphthalmia, Cleft palate OMIM:120433
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Scoliosis, Micrognathia, Kyphosis ORPHA:2598
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Wide anterior fontanel, Proptosis, Choanal atresia, Coronal craniosy... OMIM:207410
2Q24 Microdeletion Syndrome
Microphthalmia, Short philtrum, Abnormal oral frenulum morphology, Growth delay, Cleft palate ORPHA:1617
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Saul-Wilson Syndrome
Narrow nasal bridge, Wide anterior fontanel, Proptosis, Micrognathia, Convex nasal ridge, Neutrop... OMIM:618150
Autosomal Recessive Cutis Laxa Type 2A
Wide anterior fontanel, Delayed cranial suture closure, Persistent open anterior fontanelle, Prom... ORPHA:357058
Fibrochondrogenesis 1
Stillbirth, Short nose, Widely patent coronal suture, Wide anterior fontanel, Anteverted nares, P... OMIM:228520
Developmental And Epileptic Encephalopathy 73
Short nose, Scoliosis, Narrow nasal bridge OMIM:618379
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short nose, Scoliosis, Kyphosis, Mandibular prognathia ORPHA:2429
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Anteverted nares, Depressed nasal ridge ORPHA:1355
Ritscher-Schinzel Syndrome 2
Wide anterior fontanel, Patent ductus arteriosus, Convex nasal ridge, Cryptorchidism, Hypertelorism OMIM:300963
Bartsocas-Papas Syndrome 2
Wide anterior fontanel, Micrognathia OMIM:619339
Donnai-Barrow Syndrome
Short nose, Wide anterior fontanel, Proptosis, Broad nasal tip, Hypertelorism, Depressed nasal br... OMIM:222448
Marden-Walker Syndrome
Wide anterior fontanel, Anteverted nares, Micrognathia, Cryptorchidism, Hypertelorism OMIM:248700
Tetrasomy 5P
Short nose, Wide anterior fontanel, Anteverted nares, Micrognathia, Hypertelorism, Wide nasal bridge ORPHA:3309
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2370
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Short nose, Lumbar platyspondyly, Increased intervertebral space, An... OMIM:618961
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Zellweger Syndrome
Wide anterior fontanel, Death in infancy, Primary adrenal insufficiency, Micrognathia, Cryptorchi... ORPHA:912
Osteogenesis Imperfecta, Type Iii
Wormian bones, Wide anterior fontanel, Micrognathia, Dentinogenesis imperfecta OMIM:259420
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Retrognathia, Short nose, B lymphocytopenia, Anteverted nares, Decreased circulating antibody lev... OMIM:614069
Anencephaly 2
Anencephaly, Anophthalmia, Median cleft palate, Cleft maxillary alveolar ridge, Median cleft uppe... OMIM:619452
Hartsfield Syndrome
Microphthalmia, Encephalocele, Non-midline cleft of the upper lip, Cleft palate, Intrauterine gro... ORPHA:2117
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Wide anterior fontanel, Anteverted nares, Hypoplasia of teeth, Carious... OMIM:607812
Fibrochondrogenesis
Wide anterior fontanel, Anteverted nares, Proptosis, Hypertelorism, Depressed nasal bridge ORPHA:2021
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Thanatophoric Dysplasia Type 1
Wide anterior fontanel, Proptosis, Depressed nasal bridge, Patent ductus arteriosus ORPHA:1860
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Increased circulating antibody lev... ORPHA:169154
Gapo Syndrome
Breast hypoplasia, Short nose, Wide anterior fontanel, Eruption failure, Hypoplastic nipples, Del... OMIM:230740
Rhizomelic Dysplasia, Patterson-Lowry Type
Short nose, Wide nose, Abnormal form of the vertebral bodies, Mandibular prognathia, Hyperlordosi... ORPHA:2831
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Meckel Syndrome, Type 8
Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Cleft upper lip, Pericardia... OMIM:613885
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Microphthalmia, Syndromic 8
Orofacial cleft, Microphthalmia, Cleft upper lip, Cleft palate, Widely-spaced maxillary central i... OMIM:601349
Multiple Acyl-Coa Dehydrogenase Deficiency
Wide anterior fontanel, Neonatal death, Hepatic periportal necrosis, Depressed nasal bridge OMIM:231680
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Burn-Mckeown Syndrome
Short nose, Bilateral choanal atresia, Prominent nasal bridge, Wide nasal bridge ORPHA:1200
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, L... ORPHA:277
Immunodeficiency 13
B lymphocytopenia, Nasal polyposis, T lymphocytopenia, Decreased proportion of CD4-positive helpe... OMIM:615518
Van Maldergem Syndrome 2
Wide anterior fontanel, Hypoplastic nipples, Hypoplasia of the maxilla, Micrognathia, Wide crania... OMIM:615546
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... OMIM:610163
Diabetes Insipidus, Neurohypophyseal
Short nose, Wide nose OMIM:125700
Progeroid Syndrome, Petty Type
Wide anterior fontanel, Mandibular prognathia ORPHA:2963
Anauxetic Dysplasia 3
Retrognathia, Wide anterior fontanel, Depressed nasal bridge OMIM:618853
Shprintzen-Goldberg Craniosynostosis Syndrome
Wide anterior fontanel, Anteverted nares, Proptosis, Shallow orbits, Hypoplasia of the maxilla, M... OMIM:182212
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Craniometadiaphyseal Dysplasia
Wide anterior fontanel, Mandibular prognathia, Carious teeth, Natal tooth, Wormian bones OMIM:269300
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios, Narrow mouth, Anal atresia ORPHA:3469
Odontochondrodysplasia
Retrognathia, Short nose, Delayed eruption of teeth, Scoliosis, Dentinogenesis imperfecta, Platys... ORPHA:166272
Fibrochondrogenesis 2
Short nose, Anteverted nares, Short ribs, Cupped ribs, Micrognathia, Platyspondyly OMIM:614524
Acromicric Dysplasia
Anteverted nares, Short nose, Ovoid vertebral bodies, Bulbous nose ORPHA:969
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares ORPHA:1450
Developmental And Epileptic Encephalopathy 111
Wide anterior fontanel, Cryptorchidism, Hypertelorism OMIM:620504
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Retrognathia, Short nose, Broad nasal tip OMIM:613670
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Opitz Gbbb Syndrome
Wide anterior fontanel, Anteverted nares, Abnormal nasopharynx morphology, Cryptorchidism, Wide n... OMIM:300000
Isolated Arrhinia
Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Absent nasal septal cartilage... ORPHA:1134
Acrocephalopolydactyly
Short neck, Short nose, Depressed nasal ridge ORPHA:221054
Van Maldergem Syndrome 1
Wide anterior fontanel, Hypoplasia of the maxilla, Micrognathia, Wide cranial sutures, Dental mal... OMIM:601390
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Craniodigital-Intellectual Disability Syndrome
Short nose, Micrognathia, Spina bifida occulta, Narrow nasal bridge ORPHA:1514
Cutis Laxa, Autosomal Recessive, Type Iia
Carious teeth, Anteverted nares, Wide anterior fontanel, Short nose OMIM:219200
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe... OMIM:618108
Peroxisome Biogenesis Disorder 1A (Zellweger)
Death in childhood, Wide anterior fontanel, Anteverted nares, Micrognathia, Patent ductus arterio... OMIM:214100
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Wide anterior fontanel, Micrognathia, Neonatal death, Natal tooth, Large posterior fontanelle, Ab... OMIM:617925
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Splenic cyst, Wide anterior fontanel, Pancreatic hypoplasia, Choanal atresia, Sagittal craniosyno... OMIM:610199
Mpdu1-Cdg
Wide anterior fontanel, Decreased response to growth hormone stimulation test ORPHA:79323
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Orofacial cleft, Occipital encephalocele, Microphthalmia ORPHA:324416
Brachytelephalangic Chondrodysplasia Punctata
Butterfly vertebrae, Cervical spinal canal stenosis, Nasal congestion, Spinal canal stenosis, Bro... ORPHA:79345
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan... OMIM:618986
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Wide anterior fontanel, Neonatal death, Depressed nasal bridge, Brain abscess OMIM:616482
Achondroplasia
Wide anterior fontanel, Anteverted nares, Short nasal bridge, Depressed nasal bridge ORPHA:15
Cofs Syndrome
Intrauterine growth retardation, Microphthalmia, Everted lower lip vermilion, Short stature ORPHA:1466
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares ORPHA:46
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Decreased circulat... OMIM:619510
Dubowitz Syndrome
Hypoparathyroidism, Anemia, Spina bifida occulta, Delayed eruption of teeth, Wide anterior fontan... ORPHA:235
Congenital Disorder Of Glycosylation, Type If
Wide anterior fontanel, Death in infancy OMIM:609180
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Cleft palate, High palate, Tooth agenesis ORPHA:1135
Intellectual Developmental Disorder, X-Linked 91
Short nose OMIM:300577
Microphthalmia, Syndromic 12
Intestinal malrotation, Microphthalmia, Cleft palate, Anophthalmia OMIM:615524
Nanophthalmos
Microphthalmia ORPHA:35612
Peroxisome Biogenesis Disorder 5A (Zellweger)
Large fontanelles, Wide anterior fontanel, Hypoplastic nipples, Death in adolescence, Death in in... OMIM:614866
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental enamel morphology, Wide anterior fontanel, Delayed cranial suture closure, Propto... ORPHA:85199
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short nose, Bilateral choanal atresia, Lumbar hemivertebrae, Anteverted nares, Choanal atresia, M... OMIM:619859
Monosomy 18P
Microphthalmia, Short philtrum, Tooth malposition, Hypertension, Lymphedema, Short stature, Cario... ORPHA:1598
Stickler Syndrome Type 1
Platyspondyly, Short nose, Abnormal vertebral epiphysis morphology, Hypoplasia of the maxilla ORPHA:90653
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Anteverted nares, Scoliosis, Micrognathia, Wide nasal bridge OMIM:618577
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Hydrolethalus
Gingival cleft, Microphthalmia, Polyhydramnios, Anencephaly, Anophthalmia, Bifid uvula, Unilatera... ORPHA:2189
Seckel Syndrome 2
Microphthalmia, Microdontia, Short stature, Growth delay, Microglossia, Heart murmur OMIM:606744
Baker-Gordon Syndrome
Short nose, Scoliosis, Prominent nasal tip OMIM:618218
17P13.3 Microduplication Syndrome
Short neck, Short nose, Wide nose ORPHA:217385
Pierpont Syndrome
Thin vermilion border, Microphthalmia, Widely spaced teeth, Long upper lip, Prominent median pala... OMIM:602342
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Short nasal septum, Abnormality of the vertebral column, Anosmia, Depressed nasal bridge OMIM:302950
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
14Q11.2 Microdeletion Syndrome
Short nose, Micrognathia, Depressed nasal bridge ORPHA:261120
Craniofacial-Deafness-Hand Syndrome
Short nose, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Hypoplasia of the maxil... ORPHA:1529
Oculocerebrocutaneous Syndrome
Microphthalmia, Cleft palate, Orbital encephalocele, Anophthalmia OMIM:164180
Craniosynostosis 4
Retrognathia, Lambdoidal craniosynostosis, Bicoronal synostosis, Proptosis, Coronal craniosynosto... OMIM:600775
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Distal Duplication 18Q
Short nose, Anteverted nares, Choanal atresia, Carious teeth, Micrognathia, Prominent nasal bridg... ORPHA:1716
Chromosome 6Q11-Q14 Deletion Syndrome
Short nose, Sacral dimple, Micrognathia, Broad nasal tip, Prominent nasal bridge, Short neck OMIM:613544
Microphthalmia, Syndromic 13
Widely-spaced incisors, Microphthalmia, Short stature OMIM:300915
Pierpont Syndrome
Thin vermilion border, Microphthalmia, Widely spaced teeth, Long upper lip, Everted lower lip ver... ORPHA:487825
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Alg9-Cdg
Short nose, Hypoplasia of the ovary, Wide anterior fontanel, Delayed cranial suture closure, Hypo... ORPHA:79328
Codas Syndrome
Short nose, Midline defect of the nose, Delayed eruption of teeth, Abnormal form of the vertebral... ORPHA:1458
Miller-Dieker Syndrome
Short nose, Anteverted nares, Sacral dimple ORPHA:531
Cat-Eye Syndrome
Short stature, Microphthalmia, Intrauterine growth retardation, Anal atresia ORPHA:195
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Microphthalmia, Syndromic 11
Cleft upper lip, Microphthalmia, Cleft palate OMIM:614402
Weiss-Kruszka Syndrome
Short nose, Prominent nasal tip ORPHA:502430
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:616171
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Multiple Benign Circumferential Skin Creases On Limbs
Congestive heart failure, Microphthalmia, Short stature, Cleft palate, Umbilical hernia, Long phi... ORPHA:2505
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Peho-Like Syndrome
Retrognathia, Short nose OMIM:617507
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Wide anterior fontanel, Hepatic periportal necrosis, Depressed nasal bridge ORPHA:26791
Nanophthalmos 4
Microphthalmia OMIM:615972
Frank-Ter Haar Syndrome
Wide anterior fontanel, Delayed cranial suture closure, Anteverted nares, Proptosis, Micrognathia... OMIM:249420
Vitamin K Antagonist Embryofetopathy
Short nose, Anteverted nares, Choanal atresia, Punctate vertebral calcifications, Short neck, Dep... ORPHA:1914
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia OMIM:601457
Immunodeficiency 68
Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess OMIM:612260
Verheij Syndrome
Retrognathia, Short nose, Anteverted nares, Scoliosis, Hemivertebrae, Broad nasal tip, Short neck... OMIM:615583
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, L... OMIM:242700
Opitz-Kaveggia Syndrome
Wide anterior fontanel, Choanal atresia, Micrognathia, Hypertelorism, Prominent nose, Cryptorchid... OMIM:305450
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Even-Plus Syndrome
Short nose, Bifid nasal tip, Depressed nasal ridge, Vertebral clefting, Coronal cleft vertebrae, ... OMIM:616854
Achondrogenesis Type 1B
Short nose, Anteverted nares, Abnormal rib morphology, Micrognathia, Short neck ORPHA:93298
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Wide anterior fontanel, Delayed eruption of prima... OMIM:620099
17Q12 Microduplication Syndrome
Polyhydramnios, Microphthalmia, Cleft palate, Tracheoesophageal fistula ORPHA:261272
Ogden Syndrome
Bifid nasal tip, Proptosis, Depressed nasal tip, Patent ductus arteriosus, Hypertelorism, Depress... OMIM:300855
Diamond-Blackfan Anemia 8
Short nose, Macrocytic anemia, Increased mean corpuscular volume, Hypertelorism, Wide nasal bridg... OMIM:612563
Meckel Syndrome, Type 2
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intestinal malrotation, Cleft palate, In... OMIM:603194
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Wide anterior fontanel, Short nose, Supernumerary nipple ORPHA:457279
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Recurrent mandibular subluxations, Micrognathia, Wide anterior fontanel, Delayed closure of the a... OMIM:225410
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Microphthalmia, Delayed eruption of teeth, Periodont... ORPHA:2791
Braddock-Carey Syndrome 2
Microphthalmia, Pierre-Robin sequence, Wide mouth, Cleft palate OMIM:619981
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Short nose, Scoliosis, Micrognathia, Slender nose OMIM:615419
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly, Cleft upper lip, Cleft palate OMIM:611561
3Mc Syndrome 1
Lambdoidal craniosynostosis, Spina bifida occulta, Wide anterior fontanel, Coronal craniosynostos... OMIM:257920
Baraitser-Winter Syndrome 2
Orofacial cleft, Microphthalmia, Short stature, Wide mouth, Long philtrum, Thin upper lip vermilion OMIM:614583
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Depressed nasal bridge ORPHA:438178
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Restrictive Dermopathy 1
Stillbirth, Large fontanelles, Wide anterior fontanel, Narrow nasal ridge, Temporomandibular join... OMIM:275210
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Microphthalmia, Widely spaced teeth, Microdontia, Hypoplasia of tee... ORPHA:2728
Achondrogenesis Type 1A
Short nose, Anteverted nares, Micrognathia, Short neck, Multiple rib fractures ORPHA:93299
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Wormian bones, T lymphocytopenia, Dec... OMIM:617237
Melanocytic Nevus Syndrome, Congenital
Short nose, Narrow nasal ridge, Anteverted nares, Broad nasal tip, Prominence of the premaxilla OMIM:137550
Trigonocephaly 1
Short nose, Wide nasal bridge, Lumbar hemivertebrae OMIM:190440
Osteogenesis Imperfecta, Type Viii
Wormian bones, Wide anterior fontanel, Proptosis, Dentinogenesis imperfecta OMIM:610915
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Camptodactyly Syndrome, Guadalajara Type 1
Short nose, Sacral dimple, Abnormal form of the vertebral bodies, Anteverted nares, Mandibular pr... ORPHA:1327
Achondrogenesis
Short neck, Micrognathia, Anteverted nares, Short nose ORPHA:932
Holoprosencephaly 9
Agenesis of incisor, Decreased response to growth hormone stimulation test, Short nose, Hypotelor... OMIM:610829
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Dermotrichic Syndrome
Short nose, Abnormal vertebral morphology, Depressed nasal bridge ORPHA:99688
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose OMIM:245570
Congenital Disorder Of Glycosylation, Type Iu
Short nose, Scoliosis, Micrognathia OMIM:615042
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short nose, Anteverted nares, T lymphocytopenia, Increased circulating IgM level, Micrognathia, D... OMIM:242860
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Microphthalmia, Macroglossia, Cardiomyopathy OMIM:613155
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Encephalocele, Conical tooth, Abnormality of the dentition, Broad philtrum, Intra... ORPHA:228390
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Short nose, Anteverted nares OMIM:618506
Microphthalmia, Isolated 5
Cystoid macular edema, Microphthalmia OMIM:611040
Mend Syndrome
Abnormal nasal bridge morphology, Wide anterior fontanel, Micrognathia, Prominent nasal bridge, C... ORPHA:401973
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Biemond Syndrome Type 2
Delayed puberty, Microphthalmia, Short stature ORPHA:141333
Congenital Toxoplasmosis
Intrauterine growth retardation, Microphthalmia, Ascites ORPHA:858
Harel-Yoon Syndrome
Short nose, Scoliosis, Micrognathia, Mandibular prognathia OMIM:617183
Osteogenesis Imperfecta, Type Vii
Wide anterior fontanel, Delayed cranial suture closure, Proptosis, Death in infancy, Dentinogenes... OMIM:610682
Femoral-Facial Syndrome
Short nose, Scoliosis, Vertebral segmentation defect, Abnormal rib morphology, Micrognathia, Rib ... ORPHA:1988
Rubinstein-Taybi Syndrome 1
Retrognathia, Proptosis, Accessory spleen, Talon cusp, Patent ductus arteriosus, Hypertelorism, S... OMIM:180849
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Stillbirth, Short nose, Abnormal ovarian morphology, Wide anterior fontanel, Enlarged polycystic ... ORPHA:95699
Meier-Gorlin Syndrome 7
Breast aplasia, Wide anterior fontanel, Proptosis, Choanal atresia, Craniosynostosis, Cryptorchid... OMIM:617063
Fontaine Progeroid Syndrome
Convex nasal ridge, Retrognathia, Short nose, Wide anterior fontanel, Mandibular prognathia, Hypo... OMIM:612289
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, High, narrow palate, Bilateral microphthalmos, Ethmoidal encephalocele, Optic nerv... OMIM:607597
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Potocki-Shaffer Syndrome
Short nose, Wide nasal bridge, Underdeveloped nasal alae OMIM:601224
Perlman Syndrome
Retrognathia, Short nose, Anteverted nares, Micrognathia, Wide nasal bridge ORPHA:2849
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency 17
Autoimmune hemolytic anemia, Death in childhood, Decreased proportion of CD8-positive T cells, Ab... OMIM:615607
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Frontonasal Dysplasia 1
Microphthalmia, Anterior basal encephalocele, Median cleft palate, Cranium bifidum occultum, Medi... OMIM:136760
Trisomy 13
High, narrow palate, Microphthalmia, Hydrops fetalis, Anophthalmia, Abnormality of the dentition,... ORPHA:3378
Fetal Alcohol Syndrome
Microphthalmia, Non-midline cleft of the upper lip, Microdontia, Short stature, Cleft palate, Smo... ORPHA:1915
Linear Skin Defects With Multiple Congenital Anomalies 2
Long philtrum, Microphthalmia, Pulmonary arterial hypertension, Short stature OMIM:300887
Fetal Trimethadione Syndrome
Short nose, Scoliosis, Micrognathia, Depressed nasal bridge ORPHA:1913
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Anteverted nares, Mandibular prognathia, Spinal canal stenosis, Depressed nasal bridge OMIM:614613
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Wide anterior fontanel, Micrognathia, Anteverted nares, Broad nasal tip OMIM:618548
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Oligohydramnios, Microphthalmia, High palate, Hypertrophic cardiomyopathy OMIM:619053
Diaphanospondylodysostosis
Absent in utero rib ossification, Short nose, Lumbosacral meningocele, Absent in utero ossificati... OMIM:608022
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, 11 pairs of ribs, Thin ribs, Depressed nasal ridge, Platyspondyly OMIM:300863
Warburg Micro Syndrome 1
Short stature, Thin vermilion border, Microphthalmia, Narrow mouth OMIM:600118
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Short nose, Anteverted nares, Abnormal intervertebral disk morphology ORPHA:2701
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Anemia, Wide anterior fontanel, Prominent metopic ridge, Micrognathia, Hepatosplenomegaly, Cranio... OMIM:266920
Acrocallosal Syndrome
Short nose, Wide anterior fontanel, Mandibular prognathia, Persistence of primary teeth, Hypoplas... OMIM:200990
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Microphthalmia OMIM:610023
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Bilateral cleft palate, Microphthalmia ORPHA:1473
Schinzel-Giedion Syndrome
Retrognathia, Annular pancreas, Short nose, Delayed eruption of teeth, Wide anterior fontanel, Pr... ORPHA:798
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short nose, Micrognathia, Wide nasal bridge, Intervertebral space narrowing OMIM:614078
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Micrognathia ORPHA:1495
Schneckenbecken Dysplasia
Stillbirth, Short nose, Short ribs, Narrow vertebral interpedicular distance, Ovoid vertebral bod... OMIM:269250
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Short nose, Wide anterior fontanel, Delayed cranial suture closure, Anteverted nare... OMIM:268310
Absent Eyebrows And Eyelashes With Mental Retardation
Convex nasal ridge, Short nose OMIM:200130
Meckel Syndrome, Type 4
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Cleft palate, Intrauterine growth retard... OMIM:611134
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short nose, Wide nose, Anteverted nares, Short ribs, Dysplastic sacrum, Severe platyspondyly, Sho... OMIM:613320
Chung-Jansen Syndrome
Anteverted nares, Micrognathia, Short nose OMIM:617991
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Retrognathia, Short nose, Thick nasal alae, Micrognathia, Supernumerary ribs ORPHA:163961
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Short nose, Micrognathia, Abnormal rib morphology ORPHA:2145
Boomerang Dysplasia
Hypoplastic nasal septum, Neonatal death, Wide nasal bridge, Underdeveloped nasal alae OMIM:112310
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Clark-Baraitser Syndrome
Anteverted nares, Short nose, Depressed nasal bridge, Low hanging columella OMIM:617752
Lethal Kniest-Like Dysplasia
Wide anterior fontanel ORPHA:2347
Bresek Syndrome
Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia, Growth delay, Cleft palate, Intrau... ORPHA:85284
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele, Meningocele ORPHA:101030
Frontonasal Dysplasia 3
Tessier cleft, Microphthalmia, Cleft palate OMIM:613456
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short nose, Thin ribs, Depressed nasal ridge, Micrognathia, Platyspondyly ORPHA:163966
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Denys-Drash Syndrome
Ovarian gonadoblastoma, Wide anterior fontanel, Neonatal death OMIM:194080
Foxg1 Syndrome Due To 14Q12 Microdeletion
Short nose, Scoliosis, Mandibular prognathia, Kyphosis, Bulbous nose, Depressed nasal bridge ORPHA:261144
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Microphthalmia, Increased nuchal translucency, Oligohydramnios, Cleft palate... OMIM:618494
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short nose, Anteverted nares, Micrognathia, Bulbous nose, Wide nasal bridge OMIM:613604
Anophthalmia Plus Syndrome
Tessier cleft, Anophthalmia, Non-midline cleft of the upper lip, Bilateral cleft palate, Spina bi... ORPHA:1104
Ring Chromosome 10 Syndrome
Thin vermilion border, Microphthalmia, Aganglionic megacolon, Long philtrum, Intrauterine growth ... ORPHA:1438
Temtamy Syndrome
Abnormal palate morphology, Microphthalmia, Thick lower lip vermilion ORPHA:1777
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Fg Syndrome 5
Short nose, Anteverted nares, Depressed nasal bridge OMIM:300581
Malan Syndrome
Retrognathia, Advanced eruption of teeth, Short nose, Scoliosis, Mandibular prognathia, Hyperplas... OMIM:614753
Robinow Syndrome, Autosomal Dominant 1
Retrognathia, Short nose, Delayed eruption of teeth, Wide anterior fontanel, Anteverted nares, Pr... OMIM:180700
Toriello-Carey Syndrome
Short nose, Wide anterior fontanel, Micrognathia, Patent ductus arteriosus, Cryptorchidism ORPHA:3338
Distal Deletion 12Q
Supernumerary tooth, Annular pancreas, Wide anterior fontanel, Anteverted nares, Unilateral crypt... ORPHA:96149
Baraitser-Winter Syndrome 1
Postnatal growth retardation, Orofacial cleft, Microphthalmia, Aortic valve stenosis, Cleft upper... OMIM:243310
Joubert Syndrome 14
Microphthalmia, Encephalocele, Short philtrum, Meningocele, Hypertension, Growth delay, Cleft pal... OMIM:614424
Acrodysostosis
Short nose, Delayed eruption of teeth, Abnormal form of the vertebral bodies, Anteverted nares, S... ORPHA:950
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:48431
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Microphthalmia, Solitary median maxillary central incisor, Tooth malp... ORPHA:2712
Nabais Sa-De Vries Syndrome, Type 1
Short nose, Sacral dimple, Prominent nasal bridge, Bulbous nose, Depressed nasal bridge OMIM:618828
Wrinkly Skin Syndrome
Delayed eruption of teeth, Wide anterior fontanel, Delayed cranial suture closure, Carious teeth,... OMIM:278250
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Retrognathia, Short nose, Scoliosis, Thoracic kyphosis, Hypoplasia of teeth, Micrognathia, Short ... OMIM:620250
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Anteverted nares, Short ribs, Micrognathia, Platyspondyly, Short neck, Wide nasal bri... OMIM:616897
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Downturned corners of mouth, Microphthalmia, Rhizomelia, Short philtrum ORPHA:93267
Solitary Median Maxillary Central Incisor
Microphthalmia, Solitary median maxillary central incisor, Anophthalmia, Prominent median palatal... OMIM:147250
Foxp1 Syndrome
Retrognathia, Short nose, Mandibular prognathia, Broad nasal tip, Recurrent upper respiratory tra... ORPHA:391372
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short nose, Anteverted nares, Micrognathia, Depressed nasal bridge, Short columella ORPHA:171839
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Polyhydramnios, Microphthalmia, Duodenal stenosis ORPHA:2547
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Microphthalmia, Oligodontia, Exaggerated cupid's bow, Long upper lip, Ever... ORPHA:364577
Glutamine Deficiency, Congenital
Short nose, Anteverted nares, Neonatal death, Wide nasal bridge, Depressed nasal bridge OMIM:610015
Pde4D Haploinsufficiency Syndrome
Caudal interpedicular narrowing, Short nose, Abnormal dental enamel morphology, Mandibular progna... ORPHA:439822
Baller-Gerold Syndrome
Large fontanelles, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Wide ... OMIM:218600
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Tetrasomy 18P
Short nose, Scoliosis ORPHA:3307
Pterygium Colli, Isolated
Short nose OMIM:177990
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Short nose, Scoliosis, Wide nasal bridge OMIM:218000
Pallister-Hall-Like Syndrome
Short nose, Micrognathia, Short ribs, Depressed nasal bridge OMIM:241800
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Short nose, Hypoplasia of the zygomatic bone, Depressed nasal bridge ORPHA:2835
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Kyphoscoliosis, Short nose, Wide nose, Anteverted nares, Scoliosis, Hypoplasia of teeth, Microgna... ORPHA:391408
Frontofacionasal Dysplasia
Tessier cleft, Microphthalmia, Encephalocele, Non-midline cleft of the upper lip, Short stature, ... ORPHA:1791
Facial Paresis, Hereditary Congenital, 3
Anteverted nares, Micrognathia, Short nose, Depressed nasal bridge OMIM:614744
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Short nose, Micrognathia, Prominent nasal bridge, Short neck, Underdeveloped nasal alae ORPHA:2083
Tetrasomy 12P
Short neck, Short nose, Anteverted nares, Delayed eruption of teeth ORPHA:884
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Lymphadenopat... OMIM:606367
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Retrognathia, Wide nose, Wide anterior fontanel, Miscarriage, Hypoplastic nipples, Mandibular pro... ORPHA:96334
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Widely spaced teeth, Microdontia OMIM:619694
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Delayed eruption of permanent teeth, Micrognathia, Anteverted nares, Short nose OMIM:619356
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Thick lower lip vermilion, Lymphedema, Long philtrum, Deep philtrum, Thin upper l... OMIM:152950
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Widely spaced teeth, Short philtrum, High palate, Short stature, Cleft upper lip,... OMIM:612530
Beckwith-Wiedemann Syndrome
Large fontanelles, Abnormal pancreas morphology, Otosclerosis, Wide anterior fontanel, Mandibular... ORPHA:116
Smith-Magenis Syndrome
Short nose, Abnormal form of the vertebral bodies, Anteverted nares, Mandibular prognathia, Scoli... ORPHA:819
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short nose, Mandibular prognathia, Short neck, Bulbous nose, Wide nasal bridge, Depressed nasal b... ORPHA:369891
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Short nose, Scoliosis, Micrognathia, Mandibular prognathia ORPHA:496790
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun... ORPHA:35078
Lymphedema-Distichiasis Syndrome
Microphthalmia, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Cleft upper lip, Cl... OMIM:153400
Edinburgh Malformation Syndrome
Anteverted nares, Micrognathia, Choanal atresia, Short nose ORPHA:1895
Desbuquois Dysplasia 1
Short nose, Scoliosis, Hyperlordosis, Kyphosis, Concave nasal ridge, Microretrognathia, Platyspon... OMIM:251450
Joubert Syndrome 22
Intrauterine growth retardation, Microphthalmia OMIM:615665
Subaortic Stenosis-Short Stature Syndrome
Short stature, Microphthalmia, Microdontia, Arrhythmia ORPHA:3191
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Abnormal oral frenulum morphology, Intestinal malrotation, Downturned corners of ... ORPHA:404440
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Retrognathia, Short nose, Scoliosis, Kyphosis, Micrognathia, Bulbous nose, Wide nasal bridge, Dep... OMIM:617061
Oculopalatocerebral Syndrome
Short stature, Microphthalmia, Cleft palate OMIM:257910
Icf Syndrome
Anemia, Decreased circulating antibody level, Micrognathia, Lymphopenia, Abnormality of neutrophi... ORPHA:2268
Fanconi Anemia, Complementation Group S
Narrow palate, Microphthalmia, Short stature, Thick upper lip vermilion, Dental malocclusion, Mac... OMIM:617883
Cerebrooculofacioskeletal Syndrome 1
Thin vermilion border, Microphthalmia, Delayed eruption of teeth, Dehydration, Carious teeth, Lon... OMIM:214150
Chiari Malformation Type Ii
Hydrocephalus, Cervical myelopathy, Myelomeningocele, Spina bifida OMIM:207950
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Short stature, Microphthalmia OMIM:251270
Lymphatic Malformation 5
Facial edema, Cleft palate, Predominantly lower limb lymphedema OMIM:153200
Spondylo-Ocular Syndrome
Thin vermilion border, Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproporti... ORPHA:85194
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short nose, Wide anterior fontanel, Proptosis, Depressed nasal ridge, Micrognathia, Enlarged nari... OMIM:271665
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, 11 pairs of ribs, Spondylolisthesis, Spina bifida occulta, Anterior open-bite maloccl... OMIM:617877
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Orofacial cleft, Microphthalmia, High palate OMIM:618804
Periventricular Nodular Heterotopia 7
Anteverted nares, Micrognathia, Short nose, Microretrognathia OMIM:617201
Ohdo Syndrome
Short nose, Anteverted nares, Hypoplasia of teeth, Micrognathia, Wide nasal bridge, Depressed nas... OMIM:249620
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Short nose, Narrow nasal bridge, Low hanging columella, Anteverted nares, Scoliosis, Broad colume... OMIM:619383
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose ORPHA:833
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Short nose, Prominent nasal bridge OMIM:300558
Difference Of Sex Development-Intellectual Disability Syndrome
Short neck, Short nose, Spina bifida occulta, Kyphosis ORPHA:2983
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Anteverted nares, Short nose, Depressed nasal bridge OMIM:613443
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short nose, Microretrognathia ORPHA:1389
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Short nose, Anteverted nares, Scoliosis, Prominent nose, Wide nasal bridge, Depressed nasal bridge OMIM:618316
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia, Narrow mouth, Short stature, Mild short stature OMIM:614833
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Downturned corners of mouth, Microphthalmia, Smooth philtrum OMIM:618652
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Microphthalmia, Retinal neovascularization, Lymphedema, Vitreous hemorrha... ORPHA:891
Cebalid Syndrome
Anteverted nares, Short nose, Depressed nasal bridge, Depressed nasal ridge OMIM:618774
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Lissencephaly 8
Occipital encephalocele, Microphthalmia OMIM:617255
Intellectual Developmental Disorder, X-Linked 21
Short nose, Mandibular prognathia OMIM:300143
Cerebrofaciothoracic Dysplasia
Short nose, Bifid ribs, Wide nose, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Rib f... ORPHA:1394
Achondrogenesis, Type Ia
Stillbirth, Hypoplastic sacrum, Short nose, Unossified vertebral bodies, Anteverted nares, Short ... OMIM:200600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Short nose, Depressed nasal bridge OMIM:616910
Chromosome 3Q29 Duplication Syndrome
Short nose, Bulbous nose, Wide nasal bridge OMIM:611936
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted lower lip vermilion... OMIM:608670
Chromosome 13Q33-Q34 Deletion Syndrome
Advanced eruption of teeth, Microphthalmia, Anencephaly, Short philtrum, Delayed eruption of teet... OMIM:619148
Ruvalcaba Syndrome
Short nose, Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis, Convex nasal ridge ORPHA:3121
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Short nose, Bulbous nose, Wide nasal bridge OMIM:620292
Marshall-Smith Syndrome
Retrognathia, Short nose, Anteverted nares, Scoliosis, Choanal atresia ORPHA:561
Congenital Rubella Syndrome
Intrauterine growth retardation, Microphthalmia, Aplasia/Hypoplasia of the iris, Short stature ORPHA:290
Microphthalmia With Limb Anomalies
Postnatal growth retardation, Microphthalmia, Anophthalmia, High palate, Growth delay, Cleft uppe... OMIM:206920
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Microphthalmia, Reduced systolic function OMIM:618805
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr... ORPHA:216694
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Kyphoscoliosis, Short nose, Anteverted nares, Mandibular prognathia, Thoracic kyphosis, Lumbar in... OMIM:271510
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Smooth philtrum OMIM:602501
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Meckel diverticulum, Eclabion, Carious teeth, Pyloric stenosis, Natal tooth, Shor... OMIM:616395
Trisomy 12P
Short neck, Micrognathia, Wide nasal bridge, Short nose ORPHA:1699
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
3C Syndrome
Short nose, Scoliosis, Hemivertebrae, Missing ribs, Kyphosis, Micrognathia, Short neck, Wide nasa... ORPHA:7
Oculogastrointestinal Neurodevelopmental Syndrome
Short stature, Bilateral microphthalmos, Unilateral microphthalmos, Anal atresia OMIM:619318
Campomelic Dysplasia
Wide anterior fontanel, Depressed nasal ridge, Carious teeth, Micrognathia, Recurrent upper respi... OMIM:114290
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature, Cleft palate OMIM:610125
Waardenburg Syndrome Type 1
Short nose, Scoliosis, Mandibular prognathia, Wide nasal bridge, Underdeveloped nasal alae ORPHA:894
9q subtelomeric deletion syndrome
Short nose, Anteverted nares DECIPHER:52
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Short nose, Broad nasal tip, Wide nasal bridge OMIM:615716
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Holoprosencephaly, Intrauterine growth re... ORPHA:1908
Gracile Bone Dysplasia
Microphthalmia, Aniridia, Ascites, Ankyloglossia, Short stature OMIM:602361
Galloway-Mowat Syndrome 3
Microphthalmia, Hypertension, Narrow mouth, High palate, Short stature, Intrauterine growth retar... OMIM:617729
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Smooth philtrum, Esophageal atresia, Cleft soft palate OMIM:614526
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Short nose, Scoliosis, Bulbous nose, Depressed nasal bridge OMIM:618430
3P25.3 Microdeletion Syndrome
High, narrow palate, Microphthalmia, Short philtrum, Pyloric stenosis, Pulmonic stenosis, Downtur... ORPHA:435638
Temtamy Syndrome
Microphthalmia, Aortic regurgitation, Dental crowding, Hypoplasia of teeth, Long philtrum OMIM:218340
Congenital Fibrinogen Deficiency
Microphthalmia, Gingival bleeding, Internal hemorrhage, Volvulus, Tachycardia ORPHA:335
Aarskog-Scott Syndrome
Short nose, Anteverted nares, Scoliosis, Hypoplasia of the maxilla, Hypoplasia of the odontoid pr... OMIM:305400
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Short philtrum, High palate, Tented upper lip vermilion, Long philtrum OMIM:614105
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia OMIM:308350
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short nose, Scoliosis, Microretrognathia, Short neck, Bulbous nose, Wide nasal bridge OMIM:618571
Otopalatodigital Syndrome, Type Ii
Stillbirth, Wide anterior fontanel, Micrognathia, Hypertelorism, Wormian bones, Cryptorchidism, D... OMIM:304120
Cenani-Lenz Syndrome
Short nose, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Scoliosis, ... ORPHA:3258
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Cervical spinal canal stenosis, Short nose, Scoliosis, Hyperlordosis, Mandibular prognathia, Unde... OMIM:616007
Turnpenny-Fry Syndrome
Hypoplasia of the primary teeth, Wide anterior fontanel, Mandibular prognathia, Prominent nasal t... OMIM:618371
Myoclonic-Astatic Epilepsy
Microphthalmia, Thick lower lip vermilion, Wide mouth, Broad philtrum, Long philtrum, Thin upper ... ORPHA:1942
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Thin vermilion border, Microphthalmia, Severe intrauterine growth r... OMIM:241410
Autosomal Dominant Omodysplasia
Short nose, Micrognathia, Depressed nasal bridge ORPHA:93328
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Microphthalmia, Growth delay OMIM:610756
Intellectual Developmental Disorder, Autosomal Dominant 1
Retrognathia, Short nose, Scoliosis, Hemivertebrae, Mandibular prognathia, Depressed nasal ridge,... OMIM:156200
Chromosome 1P36 Deletion Syndrome, Distal
Wide anterior fontanel, Depressed nasal ridge, Congenital hypothyroidism, Hypothyroidism, Hyperte... OMIM:607872
Fryns Syndrome
Microphthalmia, Aganglionic megacolon, Polyhydramnios, Non-midline cleft of the upper lip, Ectopi... ORPHA:2059
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites... OMIM:265300
Pontocerebellar Hypoplasia, Type 2E
Short nose, Scoliosis, Micrognathia, Wide nose OMIM:615851
Lowry-Maclean Syndrome
Retrognathia, Short nose, Talon cusp, Choanal atresia, Hypoplasia of the maxilla, Micrognathia, S... ORPHA:2409
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Short nose, Scoliosis, Narrow nasal bridge ORPHA:544503
Atelosteogenesis, Type I
Stillbirth, Short nose, Fused cervical vertebrae, 11 pairs of ribs, Vertebral hypoplasia, Microgn... OMIM:108720
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Wildervanck Syndrome
Meningocele ORPHA:3456
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Short philtrum, High palate, Furrowed tongue, Everted lower lip vermilion, Pulmon... OMIM:616449
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Short nose OMIM:619854
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Bilateral cleft palate, High palate, Unilateral microphthalmos, Ankyloglossia, Short stature, Ena... OMIM:618874
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Short nose, Wide nasal bridge O