banner
Genes Phenotypes Help, News, Blog

Gene: Col11a2 MGI:88447

Log in to follow

Gene Summary

Name:
collagen, type XI, alpha 2
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating bilirubin level Col11a2tm1b(KOMP)Wtsi HET Early adult 1.51×10-07
decreased circulating triglyceride level Col11a2tm1b(KOMP)Wtsi HET Early adult 2.37×10-07
decreased cardiac output Col11a2tm1b(KOMP)Wtsi HET Early adult 2.78×10-05
preweaning lethality, incomplete penetrance Col11a2tm1b(KOMP)Wtsi HOM   Early adult 0.00196
increased startle reflex Col11a2tm1b(KOMP)Wtsi HET Early adult 6.25×10-06
increased lean body mass Col11a2tm1b(KOMP)Wtsi HET Early adult 8.90×10-05
decreased mean corpuscular volume Col11a2tm1b(KOMP)Wtsi HET Early adult 3.67×10-06
increased circulating unsaturated transferrin level Col11a2tm1b(KOMP)Wtsi HET Early adult 1.70×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Electrocardiogram (ECG)

Waveform Image

22 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Human diseases caused by Col11a2 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 predicted to be associated to Col11a2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glutathione Peroxidase Deficiency
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia OMIM:614164
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Short Stature, Brussels Type
Microretrognathia, Short stature, Delayed epiphyseal ossification, Growth delay, Calcification of... ORPHA:2867
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... OMIM:237800
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Narrow face, Ulnar deviation of the wrist, Depressed nasal... ORPHA:1529
Chromosome 3Pter-P25 Deletion Syndrome
Micrognathia, Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Short stature, T... OMIM:613792
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Coronal craniosynostosis, Knee dislocation, Irregular epiphyses of the metacarpals,... OMIM:614078
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Chromosome 15Q26-Qter Deletion Syndrome
Short stature, Micrognathia, Wide nasal bridge, Short middle phalanx of finger, Low-set ears, Int... OMIM:612626
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type
Coarse facial features, Prominent nose, Bulbous nose, Thick nasal alae, Triangular face ORPHA:293707
Malaria
Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Slender nose, Micrognathia, Postnatal growth retardati... OMIM:615419
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia OMIM:179700
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Mesomelia-Synostoses Syndrome
Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of the 5th finge... ORPHA:2496
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Alazami Syndrome
Wide nose, Severe short stature, Depressed nasal bridge, Wide nasal bridge, Low-set ears, Triangu... OMIM:615071
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Crigler-Najjar Syndrome Type 1
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Arthrogryposis, Distal, Type 2B1
Mandibular prognathia, Ulnar deviation of the wrist, Camptodactyly of finger, Short stature, Rock... OMIM:601680
17Q21.31 Microduplication Syndrome
Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Delayed puberty, Clinodactyly of the ... ORPHA:217340
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Round face, Anteverted nares, Prominent na... ORPHA:2332
17P11.2 Microduplication Syndrome
Low-set, posteriorly rotated ears, Short stature, Micrognathia, EEG abnormality, Triangular face,... ORPHA:1713
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... ORPHA:3202
Distal Duplication 18Q
Low-set, posteriorly rotated ears, Round face, Anteverted nares, Camptodactyly of finger, Promine... ORPHA:1716
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Micrognathia, Short nose ORPHA:2015
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Arthrogryposis, Distal, Type 2B2
Sandal gap, Ulnar deviation of the wrist, Broad hallux, Tapered finger, Metatarsus adductus, Shor... OMIM:618435
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Short stature, Delayed closure of the anterior fontanelle, Postnatal growth retardation, Protrudi... ORPHA:231140
Congenital Myopathy 19
Posteriorly rotated ears, Micrognathia, Depressed nasal ridge, Low-set ears, Triangular face, Hea... OMIM:618578
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia, Splen... OMIM:620010
Edinburgh Malformation Syndrome
Failure to thrive, Neonatal hyperbilirubinemia OMIM:129850
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Adenylosuccinate Lyase Deficiency
Prominent metopic ridge, Anteverted nares, Abnormal facial shape, Low-set ears, Short nose ORPHA:46
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
3-Hydroxyisobutyric Aciduria
Intrauterine growth retardation, Microtia, Triangular face, Micrognathia ORPHA:939
Distal 17P13.1 Microdeletion Syndrome
Triangular face, Arachnodactyly, Prominent nasal bridge, Limited elbow movement, Retrognathia, Pr... ORPHA:319171
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu... ORPHA:98870
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Anteverted nares, Short stature, Micrognathia, Persistence of primary teeth, Sensorineural hearin... OMIM:618342
Short Stature, Dauber-Argente Type
Long toe, Delayed eruption of teeth, Arachnodactyly, Short stature, Decreased fibular diameter, P... OMIM:619489
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Short stature, Long nose, Protruding ear, EEG abnormality, Abnormal facial shape, Triangular face... ORPHA:85329
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Mandibular prognathia, Triangular face, Prominent nasal bridge... ORPHA:1110
Intellectual Developmental Disorder, X-Linked 91
Small hand, Short foot, Abnormal facial shape, Short 5th finger, Cubitus valgus, Clinodactyly, Sh... OMIM:300577
Legg-Calvé-Perthes Disease
Joint dislocation, Short stature, Cartilage destruction ORPHA:2380
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Polydactyly, Low-set ears, Conductive hearing impairment, Intrauterine gr... OMIM:616910
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Long face, Brachydactyly, Short stature, Anteverted nares, Posteriorly rotated ears, Micrognathia... OMIM:613604
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Posteriorly rotated ears, Micrognathia, Depressed nasal ridge, Low-set ears, Ma... ORPHA:1832
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Syndactyly, Round face, Short stature, Depressed nasal bridge, Bulbous nos... ORPHA:369891
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Round face, Short stature, Coxa valga, Genu valgum, Conductive hearing impa... OMIM:132450
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Mulchandani-Bhoj-Conlin Syndrome
Severe short stature, Posteriorly rotated ears, 2-3 toe syndactyly, Intrauterine growth retardati... OMIM:617352
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Silver-Russell Syndrome Due To 11P15 Microduplication
Short stature, Postnatal growth retardation, Severe intrauterine growth retardation, Clinodactyly... ORPHA:231144
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Short stature, Abnormal pelvic girdle bone morphology, Hip dys... ORPHA:2370
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Stickler Syndrome, Type Iv
Epiphyseal dysplasia, Short stature, Flat capital femoral epiphysis, Sensorineural hearing impair... OMIM:614134
Nicolaides-Baraitser Syndrome
Narrow nasal bridge, Joint dislocation, Severe short stature, Anteverted nares, Sandal gap, Abnor... ORPHA:3051
Potocki-Lupski Syndrome
Mandibular prognathia, Short stature, Micrognathia, Dental malocclusion, EEG abnormality, Promine... OMIM:610883
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:616649
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia of inadequate ... OMIM:224120
Acromicric Dysplasia
Round face, Severe short stature, Anteverted nares, Short metacarpal, Decreased nerve conduction ... ORPHA:969
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Low-set, posteriorly rotated ears, Hip contracture, Triangular face, Anteverted nares, Prominent ... ORPHA:371364
Distal Deletion 10Q
Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Clinodactyly, Short metatarsal, Protr... ORPHA:96148
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Dental malocclusion, Large earlobe, Short columella, Short nose, Short di... OMIM:155050
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Short stature, Growth delay, Abnormal facial shape, Short nose, Macrotia ORPHA:438178
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Dentinogenesis imperfecta, Tibial bowi... OMIM:259420
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Arachnodactyly, Bulbous nose, Low-set ears, Hypoplasia of the antihelix, Short ... OMIM:616420
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, ... ORPHA:1458
Chondrodysplasia Punctata 1, X-Linked Recessive
Short stature, Depressed nasal bridge, Anosmia, Epiphyseal stippling, Short nose, Short nasal sep... OMIM:302950
Three M Syndrome 3
Anteverted nares, Short stature, Protruding ear, Growth delay, Slender long bone, Hip dysplasia, ... OMIM:614205
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:612653
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me... OMIM:185000
Chromosome 10Q26 Deletion Syndrome
Congenital hip dislocation, Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Protrudin... OMIM:609625
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Ring Chromosome 8 Syndrome
Deviation of finger, Short nose, Anteverted nares, Round ear ORPHA:1450
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Short stature, Prominent nasal bridge, Micrognathia, Sensorine... ORPHA:1131
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Prominent no... OMIM:616801
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Short nose, Hip dysplasia, Sensorineural hearing impairment OMIM:618379
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Short stature, Camptodactyly of finger, Micrognathia, Avascular necrosis of the... ORPHA:77258
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Depressed nasal bridge, Anteverted nares, Short stature, Proximal placement of... ORPHA:1825
Al Kaissi Syndrome
Depressed nasal bridge, Short stature, Posteriorly rotated ears, Broad nasal tip, Postnatal growt... OMIM:617694
Three M Syndrome 1
Joint dislocation, Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Short stature... OMIM:273750
Metaphyseal Acroscyphodysplasia
Joint dislocation, Brachydactyly, Severe short stature, Cone-shaped metacarpal epiphyses, Bowing ... ORPHA:1240
Three M Syndrome 2
Delayed eruption of teeth, Severe short stature, Depressed nasal bridge, Anteverted nares, Short ... OMIM:612921
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Arachnodactyly, Optic atrophy, Deviation of finger, Congenital finger flexion contractures, Macro... ORPHA:1154
Silver-Russell Syndrome 5
Birth length less than 3rd percentile, Intrauterine growth retardation, Triangular face OMIM:618908
Silver-Russell Syndrome 3
Syndactyly, Short stature, Postnatal growth retardation, Small hand, Antecubital pterygium, Low-s... OMIM:616489
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity,... OMIM:616278
Nabais Sa-De Vries Syndrome, Type 2
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Prominent nose, Posteriorly rot... OMIM:618829
Arthrogryposis, Distal, Type 2B3
Hallux valgus, Short stature, Camptodactyly, Overlapping fingers, Triangular face, Adducted thumb OMIM:618436
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Round face, Anteverted nares, Short stature, Depressed nasal ridge, Short nose ORPHA:1355
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... ORPHA:363417
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Prominent fingertip pads, Short stature, Postnatal growth retardation, Clinodactyly of the 5th fi... ORPHA:231137
3M Syndrome
Delayed eruption of teeth, Hypoplasia of the ulna, Congenital hip dislocation, Anteverted nares, ... ORPHA:2616
Acrocephalopolydactyly
Genu recurvatum, Depressed nasal ridge, Short long bone, Microtia, Short nose, Brachydactyly ORPHA:221054
20Q11.2 Microduplication Syndrome
Low-set, posteriorly rotated ears, Prominent metopic ridge, Coarse facial features, Depressed nas... ORPHA:363659
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Anteverted nares, Arachnodactyly, Broad hallux, Hypoplasia of the maxilla, Bulbous nose, Hip disl... ORPHA:481152
Rhizomelic Dysplasia, Patterson-Lowry Type
Large face, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Mandibular prognathia, Depres... ORPHA:2831
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Micrognathia, Wrist swelling, Wide nasal bridge, Slender long bone, Meta... ORPHA:2774
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... OMIM:235700
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Short stature, Micrognathia, Elbow dislocation, Hypoplasia of the maxill... OMIM:613805
Silver-Russell Syndrome 2
Short stature, Delayed closure of the anterior fontanelle, Micrognathia, 2-3 toe syndactyly, Clin... OMIM:618905
Autosomal Recessive Stickler Syndrome
Epiphyseal dysplasia, Short stature, Micrognathia, Sensorineural hearing impairment, Genu valgum,... ORPHA:250984
Mosaic Variegated Aneuploidy Syndrome 2
Long face, Rhizomelia, Short stature, Depressed nasal bridge, Craniosynostosis, Micrognathia, Bul... OMIM:614114
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Bradycardia, Dystonia, Pulmonary arterial hypertension, Incre... OMIM:616299
Intellectual Developmental Disorder With Neuropsychiatric Features
Depressed nasal bridge, Triangular face OMIM:617532
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:182900
Acromesomelic Dysplasia 4
Mandibular prognathia, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, R... OMIM:619636
Multicentric Carpotarsal Osteolysis Syndrome
Ankle swelling, Micrognathia, Wrist swelling, Hypoplasia of the maxilla, Osteolysis involving tar... OMIM:166300
Osteogenesis Imperfecta, Type V
Hyperextensibility of the finger joints, Short stature, Dentinogenesis imperfecta, Abnormal pelvi... OMIM:610967
Camptodactyly Syndrome, Guadalajara Type 1
Attached earlobe, Mandibular prognathia, Narrow face, Long face, Low-set, posteriorly rotated ear... ORPHA:1327
Partington Syndrome
EEG abnormality, Triangular face, Camptodactyly OMIM:309510
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Tremor, Hyperbilirubinemia ORPHA:713
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,... ORPHA:439822
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Spherocytosis, H... ORPHA:71275
Mulibrey Nanism
Wide nose, Depressed nasal bridge, Short stature, Thickened cortex of long bones, Dental malocclu... OMIM:253250
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Triangular face, Short stature, Arachnodactyly, Hearing impairment, Wide dista... OMIM:614856
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Depressed nasal bridge, Anteverted nares, Underfolded helix, Prominent nose, Posteriorl... OMIM:618316
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Depressed nasal bridge, Short stature, Recurrent upper respiratory tract infec... ORPHA:314389
Silver-Russell Syndrome 4
Birth length less than 3rd percentile, Triangular face OMIM:618907
Short Syndrome
Delayed eruption of teeth, Enlarged epiphyses, Underdeveloped nasal alae, Micrognathia, Sensorine... OMIM:269880
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short stature, Camptodactyly of finger, Micrognathia, Optic atrophy, Protruding ear, Growth delay... ORPHA:1495
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short stature, Prominent nasal bridge, Sensorineural hearing impairmen... ORPHA:71267
Mevalonic Aciduria
Low-set, posteriorly rotated ears, Short stature, Triangular face ORPHA:29
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly, Anteverted ears, Abnormal facial shape, Macrotia, Triangular face, Long face ORPHA:544254
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... ORPHA:288
Legius Syndrome
Posteriorly rotated ears, Triangular face, Low-set ears, Micrognathia OMIM:611431
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Round face, Depressed nasal bridge, Short stature, Anteverted nares, Iliac crest serra... OMIM:613320
Non-Distal Duplication 10Q
Low-set, posteriorly rotated ears, Depressed nasal bridge, Short stature, Micrognathia, Short nos... ORPHA:1695
Rhizomelic Chondrodysplasia Punctata, Type 1
Severe short stature, Rhizomelia, Depressed nasal bridge, Micrognathia, Sensorineural hearing imp... OMIM:215100
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Conductive hearing impairment, Broad di... OMIM:311300
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Depressed nasal bridge, Growth delay, Microtia, Camptodactyly, Abnormal facial shape,... OMIM:616006
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Optic atrophy, Epiphyse... ORPHA:1914
Alazami Syndrome
Wide nose, Postnatal growth retardation, Slender long bone, Low-set ears, Triangular face ORPHA:319671
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Round face, Depressed nasal bridge, Bulbous nose, Low-set ears, Clinodactyly, Macrotia, Triangula... OMIM:616789
Chopra-Amiel-Gordon Syndrome
Short stature, Postnatal growth retardation, Flared nostrils, EEG abnormality, Thick nasal alae, ... OMIM:619504
Osteogenesis Imperfecta, Type Xi
Short stature, Protrusio acetabuli, Dentinogenesis imperfecta, Coxa vara, Wormian bones, Triangul... OMIM:610968
Arthrogryposis, Distal, Type 5
Short stature, Arachnodactyly, Limited wrist extension, Absent phalangeal crease, Protruding ear,... OMIM:108145
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Enlarged epiphyses, Depressed nasal bridge, Anteverted nares, Sensorineural... OMIM:184840
Pierpont Syndrome
Wide nose, Short stature, Posteriorly rotated ears, Broad nasal tip, Short toe, Large fleshy ears... OMIM:602342
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Short stature, Posteriorly rotated ears, Proximal placement of thumb, Long nose, Postnatal growth... OMIM:620113
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Mandibular prognathia, Prominent nose, Short metatarsal, Long face, Short metacarpal, Rhizomelia,... OMIM:614813
Insulin-Like Growth Factor I, Resistance To
Severe short stature, Short stature, Sandal gap, Micrognathia, Clinodactyly, Small hand, Wide nas... OMIM:270450
Global Developmental Delay With Speech And Behavioral Abnormalities
Recurrent otitis media, Micrognathia, Triangular face, Hearing impairment OMIM:619243
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Short stature, Hearing impairment, Abnormal femoral epiphysis morphology, Triangular face, Brachy... ORPHA:3218
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Clinodactyly of the 5th finger, Intrauterine growth retardation, Triangular face, Facial asymmetry ORPHA:231147
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Sensor... OMIM:109120
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... OMIM:266200
Larsen-Like Syndrome
Joint dislocation, Short stature, Wide anterior fontanel, Dental malocclusion, Absent nasal bridg... OMIM:608545
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Abnormal epiphysis m... ORPHA:90653
Keutel Syndrome
Long face, Wide nose, Short stature, Depressed nasal bridge, Underdeveloped nasal alae, Optic atr... ORPHA:85202
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Rhizomelia, Depressed nasal bridge, Short stature, Anteverted ... ORPHA:93329
Orofaciodigital Syndrome Xv
Broad hallux, Anteverted nares, Postaxial hand polydactyly, Duplication of phalanx of hallux, Wid... OMIM:617127
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Increased total bilirubin ORPHA:2924
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... OMIM:300908
Periventricular Nodular Heterotopia 7
Microretrognathia, Optic disc pallor, Round face, Contracture of the proximal interphalangeal joi... OMIM:617201
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Syndactyly, Anteverted nares, Prominent nasal bridge, Proportionate short statu... OMIM:227330
16P11.2P12.2 Microdeletion Syndrome
Long face, Microretrognathia, Toe syndactyly, Anteverted nares, Short stature, Camptodactyly of f... ORPHA:261211
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis, Postnatal ... OMIM:614732
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Usher Syndrome, Type Ig
Abnormal vestibular function, Sensorineural hearing impairment, Hypoplasia of the nasal bone OMIM:606943
Andersen Cardiodysrhythmic Periodic Paralysis
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short... OMIM:170390
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Increased total... ORPHA:90037
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... ORPHA:90044
Acrodysostosis
Mandibular prognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metatarsal, Hypopl... ORPHA:950
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short stature, Absent tragus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly,... ORPHA:79113
Arthrogryposis, Distal, Type 2A
Joint dislocation, Mandibular prognathia, Knee flexion contracture, Spina bifida occulta, Wrist f... OMIM:193700
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Brachydactyly, Anteverted nares, Short stature, Carious teeth,... ORPHA:2701
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne... OMIM:618892
Abruzzo-Erickson Syndrome
Toe syndactyly, Short stature, Sensorineural hearing impairment, Short toe, Ulnar deviation of fi... ORPHA:921
15q26 overgrowth syndrome
Mandibular prognathia, Prominent nose, Micrognathia, Abnormal finger morphology, Abnormal facial ... DECIPHER:81
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna morphology, De... OMIM:618774
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Yuan-Harel-Lupski Syndrome
Wide nose, Sandal gap, Decreased nerve conduction velocity, Clinodactyly of the 5th finger, Talip... OMIM:616652
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
20Q13.33 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Hallux valgus, Short lower limbs, Tapered finger, Prominent cr... ORPHA:261311
Sotos Syndrome
Mandibular prognathia, Narrow face, Triangular face, Depressed nasal bridge, Anteverted nares, Po... OMIM:117550
17P13.3 Microduplication Syndrome
Wide nose, Congenital hip dislocation, Low-set ears, Clinodactyly of the 5th finger, Short nose ORPHA:217385
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia OMIM:214900
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Micrognathia, Postnatal growth retardation, Short 5th finger, Polydactyly, Low-set ea... ORPHA:397590
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Toe syndactyly, Depressed nasal bridge, Micrognathia, Toe clin... ORPHA:261120
Ohdo Syndrome, X-Linked
Long face, Coarse facial features, Depressed nasal bridge, Posteriorly rotated ears, Overlapping ... OMIM:300895
Hepatic Veno-Occlusive Disease
Increased body weight, Increased total bilirubin ORPHA:890
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Wide nose, Narrow face, Anteverted nares, Round face, Proportionate short stature, Deviation of t... ORPHA:391408
Peroxisome Biogenesis Disorder 11A (Zellweger)
Large face, Depressed nasal bridge, Anteverted nares, Wide anterior fontanel, Triangular face OMIM:614883
Kniest Dysplasia
Hip contracture, Round face, Enlarged joints, Rhizomelia, Depressed nasal bridge, Dumbbell-shaped... OMIM:156550
Hennekam-Beemer Syndrome
Wide nose, Short stature, Camptodactyly of finger, Micrognathia, Long nose, Optic atrophy, Wide n... ORPHA:2135
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn... ORPHA:1427
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Coarse facial features, Micrognathia, Carious teeth, Flared metaphysis, Hypoplastic pubic bone, S... ORPHA:93346
Short Syndrome
Severe short stature, Abnormal dental enamel morphology, Sensorineural hearing impairment, Wide n... ORPHA:3163
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Long face, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Postnatal growth retardatio... ORPHA:480907
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Broad nasal tip, Wide anterior fon... OMIM:619736
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Continuous spike and waves during slow sleep, Short nose, EEG with centrotemporal focal spike wav... OMIM:245570
Steel Syndrome
Anteverted nares, Short stature, Sensorineural hearing impairment, Hip dislocation, Wide nasal br... OMIM:615155
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Prominent nasal bridge, Short stature, Prominent fingertip pads, Short nose, Ma... OMIM:300558
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Thrombocytopenia 5
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Neonatal hyperbilirubinemia ORPHA:3363
Chung-Jansen Syndrome
Round face, Anteverted nares, Tapered finger, Micrognathia, Large earlobe, Hip dysplasia, Clinoda... OMIM:617991
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... OMIM:617519
Emery-Nelson Syndrome
Depressed nasal bridge, Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb... ORPHA:1927
Paganini-Miozzo Syndrome
Mandibular prognathia, Posteriorly rotated ears, Microtia, Low-set ears, Triangular face OMIM:301025
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Posteriorly rotated ears, Anteverted nares, Rocker bottom foot, Delayed eruption of permanent tee... OMIM:618506
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Anteverted nares, Abnormal thumb morphology... ORPHA:1842
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening,... OMIM:251450
3Q27.3 Microdeletion Syndrome
Mandibular prognathia, Slender nose, Arachnodactyly, Convex nasal ridge, Low-set ears, Small earl... ORPHA:397695
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short stature, Craniosynostosis, Micrognathia, Split hand, Abnormal antihelix ... ORPHA:2145
Grant Syndrome
Joint dislocation, Large face, Bowing of the long bones, Depressed nasal bridge, Short stature, M... ORPHA:2097
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... ORPHA:91547
Otodental Dysplasia
Delayed eruption of teeth, Anteverted nares, Sensorineural hearing impairment, Pulp calcification... OMIM:166750
Cutis Laxa, Autosomal Dominant 3
Postnatal growth retardation, Hip dislocation, Protruding ear, Low-set ears, Wormian bones, Intra... OMIM:616603
Cutis Laxa, Autosomal Recessive, Type Iib
Bowing of the long bones, Congenital hip dislocation, Narrow nasal ridge, Bulbous nose, Protrudin... OMIM:612940
Spondylodysplastic Ehlers-Danlos Syndrome
Joint dislocation, Abnormality of the temporomandibular joint, Hemifacial hypoplasia, Micrognathi... ORPHA:536471
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Long face, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity... OMIM:218000
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... ORPHA:93258
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Fa... OMIM:269920
Ohdo Syndrome
Depressed nasal bridge, Short stature, Anteverted nares, Micrognathia, Wide nasal bridge, Hypopla... OMIM:249620
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Abnormal pinna morphology, Rocker bottom foot, Micrognathia, Recurren... ORPHA:3078
Silver-Russell Syndrome 1
Syndactyly, Short middle phalanx of the 5th finger, Micrognathia, Short distal phalanx of the 5th... OMIM:180860
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Femoral bowing, Broad thumb, Wormian bones, Short 4th metacarpal, Triangular face, Sh... OMIM:619638
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Wide nose, Short femur, Abnormal pinna morphology, Rhizomelia, Sandal gap, Sensori... OMIM:607143
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Short stature, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of pro... OMIM:300863
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Failure to thrive, Hyperbilirubinemia, Steatorrhea OMIM:235555
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Triangular face, Low-set ears ORPHA:65288
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Peroxisome Biogenesis Disorder 3A (Zellweger)
Wide anterior fontanel, Wide nasal bridge, Epiphyseal stippling, Low-set ears, Flat face OMIM:614859
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Short stature, Camptodac... ORPHA:2994
Fanconi Anemia, Complementation Group I
Short stature, Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Fused... OMIM:609053
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... OMIM:232800
Simosa Craniofacial Syndrome
Posteriorly rotated ears, Abnormal pinna morphology, Underdeveloped nasal alae, Long nose, Hearin... OMIM:182150
Andersen-Tawil Syndrome
Abnormality of dental color, Short stature, Micrognathia, Hypoplasia of the maxilla, Persistence ... ORPHA:37553
Short Stature, Microcephaly, And Endocrine Dysfunction
Triangular face, Short stature, Prominent nasal bridge, Broad nasal tip, Long nose, Sensorineural... OMIM:616541
Thanatophoric Dysplasia
Brachydactyly, Depressed nasal bridge, Abnormal sacroiliac joint morphology, Hip dysplasia, Dispr... ORPHA:2655
Phosphoribosylpyrophosphate Synthetase Superactivity
Triangular face, Depressed nasal bridge, Short stature, Sensorineural hearing impairment, Gout, L... OMIM:300661
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brachydactyly, Prominent nasal bridge, Long nose, Postnatal growth retardation, Short long bone, ... OMIM:619184
Intellectual Developmental Disorder, Autosomal Dominant 59
Short stature, Protruding ear, Short foot, Low-set ears, Short palm, Mild short stature, Flat fac... OMIM:618522
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,... OMIM:206920
Silver-Russell Syndrome
Low-set, posteriorly rotated ears, Short stature, Sandal gap, Micrognathia, Postnatal growth reta... ORPHA:813
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Tremor, Increased total iron binding capacity, Unconjugated hyperbilirubinemia... OMIM:613280
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Depressed nasal bridge, Bulbous nose, Wide nasal bridge, 2-3 toe syndactyly, Protruding ear, Join... OMIM:620098
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Facial palsy, Micrognathia, S... OMIM:614744
Weiss-Kruszka Syndrome
Prominent metopic ridge, Anteverted nares, Hearing impairment, Proximal placement of thumb, Cuppe... OMIM:618619
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hearing impairment, Narrow naris... OMIM:122880
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Round face, Short metacarpal, Depressed nasal bridge, Anteverted nares, Br... OMIM:614613
Spondyloepiphyseal Dysplasia, Nishimura Type
Osteoarthritis, Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Disproportion... OMIM:618618
Chromosome 16Q22 Deletion Syndrome
Prominent metopic ridge, Depressed nasal bridge, Posteriorly rotated ears, Broad hallux, Microgna... OMIM:614541
Perlman Syndrome
Round face, Anteverted nares, Posteriorly rotated ears, Micrognathia, Wide nasal bridge, Low-set ... ORPHA:2849
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short stature, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Ab... ORPHA:163966
Ruijs-Aalfs Syndrome
Short stature, Prominent nasal bridge, Down-sloping shoulders, Micrognathia, Bulbous nose, Elbow ... OMIM:616200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Round face, Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infection... OMIM:614069
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Coarse facial features, Depressed nasal bridge, Short stature, Abnormal audito... OMIM:619260
Burn-Mckeown Syndrome
Short stature, Prominent nasal bridge, Wide nasal bridge, Short nose, Bilateral choanal atresia ORPHA:1200
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Clark-Baraitser Syndrome
Depressed nasal bridge, Anteverted nares, Sandal gap, Clinodactyly, Large earlobe, Low-set ears, ... OMIM:617752
Cole-Carpenter Syndrome 2
Microretrognathia, Wide cranial sutures, Short stature, Postnatal growth retardation, Dentinogene... OMIM:616294
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Enlarged joints, Short stature, Bowing of the legs, Disproportionate short-limb short stature, Li... ORPHA:156728
16Q24.3 Microdeletion Syndrome
Anteverted nares, Optic nerve hypoplasia, Hearing impairment, Proximal placement of thumb, Microg... ORPHA:261250
Intellectual Developmental Disorder, Autosomal Recessive 45
Round face, Coarse facial features, Anteverted nares, Bulbous nose, Wide nasal bridge, Retrognath... OMIM:615979
Meier-Gorlin Syndrome 3
Microretrognathia, Short stature, Prominent nasal bridge, Posteriorly rotated ears, Aplasia/Hypop... OMIM:613803
Rhiny
Short nose, Anteverted nares OMIM:180360
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Short stature, Micrognathia, Postnatal growth retardation, Congenital ... ORPHA:73272
Distal Deletion 3P
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Micrognathia, Postaxial hand ... ORPHA:1620
Al-Raqad Syndrome
Sandal gap, Low-set ears, Short nose, Flat face, Brachydactyly OMIM:616459
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Thrombocytopenia, Splenomegaly, ... ORPHA:64743
Distal Monosomy 7Q36
Large face, Short stature, Micrognathia, Bulbous nose, Optic atrophy, Symphalangism affecting the... ORPHA:1636
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Craniosynosto... ORPHA:171839
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Brachydactyly, Anteverted nares, Prominent nasal bridge, Short stature, Poster... ORPHA:1974
Marbach-Rustad Progeroid Syndrome
Triangular face, Short stature, Femur fracture, Delayed eruption of primary teeth, Micrognathia, ... OMIM:619322
Odontochondrodysplasia
Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Short stature, Coxa ... ORPHA:166272
Dermotrichic Syndrome
Aganglionic megacolon, Depressed nasal bridge, Proportionate short stature, EEG abnormality, Shor... ORPHA:99688
Peho-Like Syndrome
Tapered finger, Optic atrophy, Hypsarrhythmia, Short nose, Retrognathia OMIM:617507
Noonan Syndrome 14
Coarse facial features, Short stature, Prominent nasal bridge, Posteriorly rotated ears, Prominen... OMIM:619745
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Interictal EEG abnormality, Tapered finger, Sensorineural hearing impairment... ORPHA:544503
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Short stature, Delayed closure of the anterior fontanelle, Prominen... OMIM:614886
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Anteverted nares, Micrognathia, Postnatal growth retardation, Metaphyseal widening, Triangular sh... ORPHA:73230
Miller-Dieker Syndrome
Anteverted nares, Growth delay, EEG abnormality, Clinodactyly of the 5th finger, Short nose ORPHA:531
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Round face, Bulbous nose, Wide nasal bridge, Mild short stature, Short nose, Macrotia OMIM:620292
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Posteriorly rotated ears, Prominent nasal bridge, Aganglionic megacolon, Tapered finger, Bulbous ... OMIM:613870
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... OMIM:601455
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Round face, Short stature, Wide nasal bridge, Growth delay, Low-set ears, Camptodactyly, Cervical... OMIM:617333
Pterygium Colli, Isolated
Short nose, Protruding ear OMIM:177990
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cutaneous syndactyly of toes, Cutaneous finger syndactyly, Abnormality of the ear, Triangular face OMIM:225060
Cutis Laxa, Autosomal Recessive, Type Iiib
Posteriorly rotated ears, Narrow nasal ridge, Underdeveloped nasal alae, Prominent ear helix, Elb... OMIM:614438
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
High-frequency sensorineural hearing impairment, Mandibular prognathia, Postnatal growth retardat... ORPHA:2324
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Prominent nasal bridge, Optic nerve hypoplasia, Bulbous nose, Clinodactyl... OMIM:618828
Tolchin-Le Caignec Syndrome
Abnormal vestibular function, Arachnodactyly, Prominent nose, Micrognathia, Sensorineural hearing... OMIM:618971
Larsen Syndrome
Finger syndactyly, Brachydactyly, Depressed nasal bridge, Short stature, Craniosynostosis, Large ... ORPHA:503
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Triangular face ORPHA:1174
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Short stature, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee disloca... OMIM:620269
Partington Syndrome
EEG abnormality, Triangular face ORPHA:94083
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... ORPHA:2347
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Posteriorly rotated ears, Prominent nasal bridge, Camptodactyly of finger, Underdeveloped nasal a... ORPHA:2083
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Mullegama-Klein-Martinez Syndrome
Depressed nasal bridge, Short stature, Facial palsy, Prominent nose, Micrognathia, Bulbous nose, ... OMIM:301022
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Long face, Coarse facial features, Depressed nasal bridge, Short stature, Posteriorly rotated ear... OMIM:619833
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... OMIM:603553
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Facial asymmetry, Wide anterior fontanel, Low-set ears, Contracture o... ORPHA:457279
Congenital Bile Acid Synthesis Defect Type 2
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Steatorrhea, Hyperbilirubinemia, Abn... ORPHA:79303
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ... OMIM:228520
Kbg Syndrome
Vertebral fusion, Round face, Syndactyly, Anteverted nares, Prominent nasal bridge, Short stature... OMIM:148050
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Coarse facial features, Short stature, Prominent nose, Wide nasal bridge, Symphalangism affecting... ORPHA:1292
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Overlappin... OMIM:612394
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Anteverted nares, Sensorineural hearing impairment, Depressed nasal ridg... ORPHA:464288
Spinocerebellar Ataxia-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Genu recurvatum, Anteverted nares, Short stature, Optic atroph... ORPHA:1185
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Prominent fingertip pads, Broad nasal tip, Clinodactyly, Recurrent upper r... ORPHA:391372
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Nicolaides-Baraitser Syndrome
Enlarged joints, Short metatarsal, Prominent interphalangeal joints, Short phalanx of finger, Lon... OMIM:601358
Transaldolase Deficiency
Depressed nasal bridge, Wide anterior fontanel, Low-set ears, Intrauterine growth retardation, Tr... OMIM:606003
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Bowing of the legs, Metaphyseal widening, Squared iliac... OMIM:608728
Marshall Syndrome
Micrognathia, Knee osteoarthritis, Clinodactyly of the 5th finger, Small proximal tibial epiphyse... OMIM:154780
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Mixed hearing impairment, Enlarged joints, Depressed nasal bridge, Antevert... OMIM:215150
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Wormian bones, Sho... OMIM:601224
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Growth del... OMIM:615716
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Abnormality of the ear, Tibial metaphyseal irregularity, Coxa vara, Incr... ORPHA:457395
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Short stature, Overlapping toe, Underdeveloped nasal alae, Postnatal growth ret... OMIM:613026
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Wide nose, Abnormal pinna morphology, Sandal gap, Decreased nerve conduction velocity, 2-3 toe sy... ORPHA:477817
Marshall-Smith Syndrome
Distal widening of metacarpals, Coxa vara, Choanal stenosis, Prominent fingertip pads, Clinodacty... OMIM:602535
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Thanatophoric Dysplasia Type 1
Brachydactyly, Short femur, Depressed nasal bridge, Bowing of the long bones, Hypoplastic ilia, A... ORPHA:1860
Verheij Syndrome
Vertebral fusion, Square face, Anteverted nares, Short stature, Optic nerve hypoplasia, Broad nas... OMIM:615583
Desbuquois Dysplasia 2
Metaphyseal widening, Knee dislocation, Short phalanx of finger, Genu varum, Short metacarpal, De... OMIM:615777
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Hea... ORPHA:3258
Difference Of Sex Development-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Genu valgum, Microtia, Severe sensorineural hearing impairment... ORPHA:2983
Halperin-Birk Syndrome
Micrognathia, Optic atrophy, Hip dislocation, Intrauterine growth retardation, Triangular face, H... OMIM:618651
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Severe short stature, Posteriorly rotated ears, Facial palsy, Microgna... ORPHA:2780
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Short stature, Choanal stenosis, Low-s... OMIM:619859
Chromosome 6Q11-Q14 Deletion Syndrome
Short stature, Prominent nasal bridge, Broad nasal tip, Micrognathia, Low-set ears, Short nose OMIM:613544
Thoracomelic Dysplasia
Round face, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bo... ORPHA:1803
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Anteverted nares, Broad hallux, Tapered finger, Hypsarrhythmia, EEG abnormality, Retrognathia, Tr... OMIM:301044
Craniometaphyseal Dysplasia
Depressed nasal bridge, Facial palsy, Sensorineural hearing impairment, Wide nasal bridge, Conduc... ORPHA:1522
Femoral-Facial Syndrome
Short femur, Short stature, Micrognathia, Coxa vara, Abnormal fibula morphology, Radioulnar synos... ORPHA:1988
Baraitser-Winter Syndrome 1
Anteverted nares, Short stature, Postnatal growth retardation, Sensorineural hearing impairment, ... OMIM:243310
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Narrow face, Short stature, Cupped ear, Protruding ear, Growth delay, Triangular face, Long face ORPHA:93947
Saul-Wilson Syndrome
Narrow nasal bridge, Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the ... OMIM:618150
Bruck Syndrome
Bowing of the long bones, Short stature, Wormian bones, Pterygium, Triangular face ORPHA:2771
Trisomy 12P
Short stature, Micrognathia, Wide nasal bridge, Abnormal antihelix morphology, Low-set ears, Clin... ORPHA:1699
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Cree Mental Retardation Syndrome
Posteriorly rotated ears, Rocker bottom foot, Micrognathia, Cutaneous finger syndactyly, Low-set ... OMIM:606851
Noonan Syndrome With Multiple Lentigines
Low-set, posteriorly rotated ears, Short stature, Sensorineural hearing impairment, Wide nasal br... ORPHA:500
Chromosome 14Q11-Q22 Deletion Syndrome
Prominent metopic ridge, Triangular face, Depressed nasal bridge, Proportionate short stature, Mi... OMIM:613457
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Failure to thrive, Hematochezia, Hyperbilirubinemia OMIM:214950
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Anteverted nares, Posteriorly rotated ears, Fractured radius, Decreased fibular diam... OMIM:616897
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Micrognathia, Protruding ear, Long face, Short stature, Depressed nasal bridge, Tapered finger, L... OMIM:309590
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Short stature, Prominent nasal bridge, Broad nasal tip, Po... OMIM:223370
17Q24.2 Microdeletion Syndrome
Otosclerosis, Micrognathia, Wide nasal bridge, Upper limb undergrowth, Microtia, Recurrent otitis... ORPHA:529962
Cockayne Syndrome B
Mandibular prognathia, Slender nose, Severe short stature, Abnormal pinna morphology, Prominent n... OMIM:133540
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... OMIM:277410
Microcephaly-Capillary Malformation Syndrome
Wide nose, Brachydactyly, Short stature, Hypoplasia of the maxilla, Clinodactyly, Optic atrophy, ... OMIM:614261
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Increased total bilirubin ORPHA:90036
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Obesity, Hyperbilirubinemia OMIM:609734
Even-Plus Syndrome
Epiphyseal dysplasia, Severe short stature, Bifid nasal tip, Depressed nasal ridge, Microtia, Sho... OMIM:616854
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Ulnar deviation of finger, Low-set... ORPHA:1895
Distal Duplication 5Q
Hypoplasia of the ulna, Short stature, Prominent nasal bridge, Craniosynostosis, Absent thumb, Mi... ORPHA:96097
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Depressed nasal bridge, Short stature, Anteverted nares, Sensorineural hearing impair... OMIM:616430
Distal Deletion 15Q
Coarse facial features, Short stature, Broad nasal tip, Postnatal growth retardation, Micrognathi... ORPHA:1596
Congenital Disorder Of Glycosylation, Type Ii
Short stature, Sensorineural hearing impairment, Wide nasal bridge, Hypsarrhythmia, Low-set ears,... OMIM:607906
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Low-set ears, Clinodactyly of the 5... OMIM:613443
Donnai-Barrow Syndrome
Posteriorly rotated ears, Depressed nasal bridge, Wide anterior fontanel, Sensorineural hearing i... ORPHA:2143
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose OMIM:125700
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Severe short stature, Coxa valga, Elbow dislocation, Metatarsu... ORPHA:2557
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
12Q14 Microdeletion Syndrome
Wide nose, Short stature, Prominent nasal bridge, Micrognathia, Clinodactyly of the 5th finger, A... ORPHA:94063
Spondylocarpotarsal Synostosis Syndrome
Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, Anteverted nares, ... OMIM:272460
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Brachydactyly, Short stature, Wide nasal bridge, Sympha... ORPHA:710
Leopard Syndrome 1
Mandibular prognathia, Short stature, Posteriorly rotated ears, Limited elbow movement, Sensorine... OMIM:151100
Chromosome 5Q12 Deletion Syndrome
Long toe, Coarse facial features, Posteriorly rotated ears, Prominent nose, Postnatal growth reta... OMIM:615668
Robinow Syndrome, Autosomal Dominant 2
Mixed hearing impairment, Brachydactyly, Depressed nasal bridge, Short stature, Anteverted nares,... OMIM:616331
Fetal Hydantoin Syndrome
Low-set, posteriorly rotated ears, Short stature, Abnormal pinna morphology, Hearing abnormality,... ORPHA:1912
Trisomy 10P
Micrognathia, Abnormality of the ear, EEG with focal spikes, Abnormal facial shape, Abnormal hip ... ORPHA:171929
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Anteverted nares, Short stature, Posteriorly rotated ears, Sandal gap, Short toe, Anterior open-b... OMIM:617877
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Coarse facial features, Tapered finger, Bulbous nose, 2-3 toe syndactyly, Large ea... ORPHA:485405
Wiedemann-Steiner Syndrome
Micrognathia, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, Short stature... OMIM:605130
Achondrogenesis Type 1B
Severe short stature, Anteverted nares, Micrognathia, Disproportionate short stature, Short foot,... ORPHA:93298
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Micrognathia, Symphalangism affecting the phalanges of the hand, Microti... ORPHA:2547
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... ORPHA:542323
Flat Face-Microstomia-Ear Anomaly Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Underdeveloped nasal alae, Long nose,... ORPHA:1968
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short fourth metatarsal, Short metacarpal, Depressed nasal bridge, Short stature, Craniosynostosi... OMIM:616723
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive, Epistaxis OMIM:211600
Smith-Magenis Syndrome
Large face, Mandibular prognathia, Toe syndactyly, Depressed nasal bridge, Short stature, Antever... ORPHA:819
Glycogen Storage Disease Xii
Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Normochromic... OMIM:611881
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... ORPHA:93357
Marshall Syndrome
Depressed nasal bridge, Short stature, Anteverted nares, Micrognathia, Hypoplasia of the maxilla,... ORPHA:560
Fetal Trimethadione Syndrome
Depressed nasal bridge, Micrognathia, Overfolded helix, Abnormal helix morphology, Low-set ears, ... ORPHA:1913
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Triphalangeal thumb, Clinodactyly of the 5th finger, Conductive hearin... ORPHA:794
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Short palm, Hypoplastic il... OMIM:611717
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Anteverted nares, Micrognathia, Microtia, Low-set ears, Intrauterine grow... OMIM:608013
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Coarse facial features, Radial bowing, Rhizomelia, Depressed nasal bridge, Dumbbell-shaped long b... OMIM:151210
Tetrasomy 5P
Coarse facial features, Anteverted nares, Posteriorly rotated ears, Short hallux, Overlapping toe... ORPHA:3309
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short metatarsal, Pugilistic facies, Hypoplasia of the ul... OMIM:271700
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Bowing of the long bones, Congenital hip dislocation, Short stature, Shoulder fl... OMIM:255800
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Posteriorly rotated ears, Short stature, Sandal gap, Short nose OMIM:300887
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Splenomegaly, Steatorrhea, Failure to thrive, Hypocholesterolemia OMIM:607765
Menke-Hennekam Syndrome 2
Narrow nasal bridge, Square face, Depressed nasal bridge, Overlapping toe, Sandal gap, Micrognath... OMIM:618333
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Bilateral conductiv... OMIM:617802
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Short stature, Proximal placement of thumb, Micrognathia, Prea... OMIM:610536
Marshall-Smith Syndrome
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Optic atrophy, Sle... ORPHA:561
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Narrow joint spaces of the elbow, Syndactyly, Delayed closure of the anterior fontanelle, Microgn... ORPHA:96182
Trisomy 18
Low-set, posteriorly rotated ears, Microretrognathia, Narrow face, Short stature, Choanal atresia... ORPHA:3380
Nizon-Isidor Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Long fingers, Bulbous nose, Pro... OMIM:618872
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Floating-Harbor Syndrome
Prominent nose, Short middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Conductiv... OMIM:136140
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Thanatophoric Dysplasia Type 2
Brachydactyly, Depressed nasal bridge, Short stature, Abnormal metaphysis morphology, Flat face, ... ORPHA:93274
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Short stature, Micrognathia, Short nose, Spina bifida occ... ORPHA:1514
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow face, Tapered finger, Micrognathia, Wide nasal bridge, Retrognathia, Hypoplasia of teeth, ... OMIM:620250
Craniofacioskeletal Syndrome
Posteriorly rotated ears, Short stature, Choanal atresia, Micrognathia, Small hand, Short foot, M... OMIM:300712
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Short nose, Retrognathia, Broad nasal tip OMIM:613670
Kyphomelic Dysplasia
Bowing of the long bones, Micrognathia, Disproportionate short stature, Flat acetabular roof, Abn... ORPHA:1801
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic disc pallor, Short stature, Prominent nasal bridge, Optic nerve hypoplasia, Broad nasal tip... OMIM:300749
Intellectual Disability-Strabismus Syndrome
Long face, Short stature, Depressed nasal bridge, Narrow nasal ridge, Prominent nose, Facial asym... ORPHA:363528
Neurodegeneration With Brain Iron Accumulation 2A
Micrognathia, Decreased nerve conduction velocity, Optic atrophy, Short nose, Hearing impairment OMIM:256600
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Short stature, Underdevelope... OMIM:615866
Schimke Immunoosseous Dysplasia
Depressed nasal bridge, Bulbous nose, Disproportionate short-trunk short stature, Wide nasal brid... OMIM:242900
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Congenital hip dislocation, Depressed nasal bridge, Short stature, Underde... OMIM:616007
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Triangular face OMIM:619264
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Depressed nasal bridge, Anteverted nares, Short stature, Posteriorly rotated ears, Postnatal grow... OMIM:613563
Achondrogenesis Type 1A
Severe short stature, Anteverted nares, Micrognathia, Short foot, Short palm, Short nose, Flat face ORPHA:93299
Idiopathic Congenital Hypothyroidism
Bradycardia, Neonatal hyperbilirubinemia ORPHA:95717
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Hematochezia, Hyperbilirubinemia, Steatorrhea, Failure to thrive OMIM:613812
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... ORPHA:1667
Brachytelephalangic Chondrodysplasia Punctata
Mixed hearing impairment, Calcaneal epiphyseal stippling, Optic nerve hypoplasia, Proportionate s... ORPHA:79345
Autosomal Dominant Omodysplasia
Short humerus, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislocation, Patellar disl... ORPHA:93328
Witteveen-Kolk Syndrome
Narrow face, Glue ear, Uplifted earlobe, Proximal placement of thumb, Clinodactyly, Protruding ea... OMIM:613406
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Short nose, Coarse facial features ORPHA:2429
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Joubert Syndrome 27
Polydactyly, Triangular face OMIM:617120
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Flat face, Low-set ears OMIM:616994
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Short stature, Posteriorly rotated ears, Broad nasal tip, Broad hallux, Sandal ... OMIM:618529
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Severe short stature, Posteriorly rotated ears, Micrognathia, Wide nasa... OMIM:224410
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Coarse facial features, Posteriorly rotated ears, Short stature, EEG with burst suppression, Low-... OMIM:617260
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depres... ORPHA:87
Spondyloepiphyseal Dysplasia Congenita
Coarse facial features, Short femur, Limited elbow movement, Micrognathia, Disproportionate short... ORPHA:94068
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Round face, Posteriorly rotated ears, Anteverted nares, Micrognathia, Wide nasal bridge, Microtia... OMIM:602562
Campomelic Dysplasia
Bowing of the long bones, Depressed nasal bridge, Short stature, Small abnormally formed scapulae... ORPHA:140
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Depressed nasal bridge, Short stature, Broad nasal tip, Cupped ear, Depressed nasal tip, Contract... OMIM:618223
Feingold Syndrome 1
Anteverted nares, Posteriorly rotated ears, Facial asymmetry, Micrognathia, Short thumb, Short to... OMIM:164280
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Coarse facial features, Anteverted nares, Overlapping toe, Optic atrophy, Wi... OMIM:619383
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia, Opisthotonus OMIM:619685
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Narrow face, Convex nasal ridge, Micrognathia, Tibial bowing, Clinodactyly of the 5th finger, Abn... ORPHA:251028
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Clinodactyly, Unilambdoid synostosi... OMIM:618577
Lethal Congenital Contracture Syndrome 9
Triangular face, Depressed nasal bridge, Anteverted nares, Micrognathia, Antecubital pterygium, L... OMIM:616503
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Short stature, Anteverted nares, Micrognathia, Low-set ears, Short nose, ... OMIM:242860
Stuve-Wiedemann Syndrome 1
Enlarged joints, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tib... OMIM:601559
Tetrasomy 18P
Low-set, posteriorly rotated ears, Short nose, Facial asymmetry ORPHA:3307
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Arachnodactyly, Prominent nasal bridge, Craniosynostosis... OMIM:616914
Baller-Gerold Syndrome
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Narrow face, Bowing of the long bones, Shor... ORPHA:1225
Achondrogenesis
Severe short stature, Anteverted nares, Micrognathia, Short nose, Flat face ORPHA:932
Baker-Gordon Syndrome
Prominent nasal tip, Short nose, EEG abnormality OMIM:618218
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... ORPHA:464321
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Syndactyly, Anteverted nares, Short stature, Wide nasal bridge, Coxa vara, 2-3 ... OMIM:614701
Floating-Harbor Syndrome
Enlarged joints, Long nose, Hypoplasia of the maxilla, Humeral pseudarthrosis, Conductive hearing... ORPHA:2044
Cholestasis, Progressive Familial Intrahepatic, 8
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbiliru... OMIM:619662
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Anteverted nares, Choanal atresia, Short stature, Posteriorly rotated ears, Abnormal ... OMIM:616975
Renpenning Syndrome 1
Long face, Mandibular prognathia, Narrow face, Short stature, Hearing impairment, Micrognathia, B... OMIM:309500
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Anteverted nares, Coxa valga, Micrognathia, Wide anterior fontanel, Abnor... ORPHA:163649
Fibrochondrogenesis 2
Anteverted nares, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypop... OMIM:614524
Peroxisome Biogenesis Disorder 3B
Sensorineural hearing impairment, Abnormal facial shape, Depressed nasal ridge, Flat face OMIM:266510
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Broad hallux, Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Shortening of all distal... OMIM:614749
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Hip dislocation, Abnormal facial shape, Low-set ears, Short nose OMIM:608776
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Metaphyseal widen... OMIM:618961
Aarskog-Scott Syndrome
Short palm, Hyperextensibility of the finger joints, Round face, Syndactyly, Anteverted nares, Sh... OMIM:305400
Arboleda-Tham Syndrome
Mandibular prognathia, Anteverted ears, Chronic otitis media, Small earlobe, Prominent antitragus... OMIM:616268
Ayme-Gripp Syndrome
Mandibular prognathia, Brachydactyly, Depressed nasal bridge, Short stature, Posteriorly rotated ... OMIM:601088
Dysostosis, Stanescu Type
Narrow nasal bridge, Persistent open anterior fontanelle, Bowing of the long bones, Short stature... ORPHA:1798
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Posteriorly rotated ears, Micrognathia, Retrognathia, Low-set ears, Short nose, Thick nasal alae ORPHA:163961
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Coarse facial features, Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Shor... OMIM:619356
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Orthostatic hypotension, Triangular face, Hearing impairment, Prominent nose OMIM:615510
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypertension, Increased ... ORPHA:2169
Melanocytic Nevus Syndrome, Congenital
Round face, Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, ... OMIM:137550
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Abnormal metacarpal morphology, Osteoarthritis, Micrognathia, Sensorineural hearing impairment ORPHA:166100
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Posteriorly rotated ears, Sandal gap, Tapered finger, Bulbous nose, Low-s... OMIM:618430
Cadds
Intrauterine growth retardation, Short nose, Micrognathia, Sensorineural hearing impairment ORPHA:369942
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Short stature, Craniosynostosis, Posteriorly rotated ears, Wide anterior fontan... OMIM:601853
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia, Failure to thrive OMIM:619484
Toluene Embryopathy
Short stature, Tapered finger, Micrognathia, Protruding ear, Hypoplasia of the zygomatic bone, Lo... ORPHA:1920
Seckel Syndrome 1
Abnormal finger flexion crease, Prominent nose, Micrognathia, Clinodactyly of the 5th finger, Dis... OMIM:210600
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Prominent metopic ridge, Depressed nasal bridge, Bulbous nose, Protruding ... ORPHA:261144
Noonan Syndrome
Low-set, posteriorly rotated ears, Short stature, Micrognathia, Aplasia of the semicircular canal... ORPHA:648
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Abnormality of the elbow, Small han... ORPHA:3121
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Congestive heart failure, Hypoalbuminemia, Hyper... OMIM:617156
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodact... OMIM:210720
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Underdeveloped nasal alae, He... ORPHA:2031
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joint dislocation, Genu... ORPHA:93360
Warsaw Breakage Syndrome
Postnatal growth retardation, Hypoplasia of the cochlea, Cupped ear, Optic disc coloboma, 2-3 toe... OMIM:613398
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Short metacarpal, Radial bowing,... OMIM:108720
Atelis Syndrome 2
Prominent nose, Micrognathia, Bulbous nose, Protruding ear, Low-set ears, Clinodactyly, Triangula... OMIM:620185
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Bulbous nose, Short nose, Hear... ORPHA:284169
Osteogenesis Imperfecta
Abnormality of dental color, Micrognathia, Osteoarthritis, Abnormal tibia morphology, Abnormal fe... ORPHA:666
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Thrombocytopeni... OMIM:557000
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose, Abnormal facial shape, Short stature, EEG with multifocal slow activity ORPHA:289266
Mevalonic Aciduria
Optic disc pallor, Posteriorly rotated ears, Short stature, Underdeveloped nasal alae, Low-set ea... OMIM:610377
Harel-Yoon Syndrome
Mandibular prognathia, Micrognathia, Optic atrophy, Hip dysplasia, Short nose, Long face OMIM:617183
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... OMIM:600501
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Craniosynostosis, Camptodac... ORPHA:83
Chromosome 3Q29 Duplication Syndrome
Round face, Bulbous nose, Wide nasal bridge, Short nose, Long face OMIM:611936
Blepharophimosis-Impaired Intellectual Development Syndrome
Wide nose, Anteverted nares, Posteriorly rotated ears, Narrow nasal ridge, Underdeveloped nasal a... OMIM:619293
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Peroxisome Biogenesis Disorder 13A (Zellweger)
Depressed nasal bridge, Delayed closure of the anterior fontanelle, Micrognathia, Wide nasal brid... OMIM:614887
Pancreatic And Cerebellar Agenesis
Abnormal pinna morphology, Convex nasal ridge, Optic nerve hypoplasia, Severe intrauterine growth... OMIM:609069
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Short nose, Uplifted earlobe OMIM:300143
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Short femur, Bowed humeru... OMIM:211350
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenomegaly, Hypoalbu... OMIM:251880
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Broad nasal tip, Dental malocclusion, Limited elbow extension, Flat f... OMIM:619719
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Posteriorly rotated ears, Broad long bones, Bowing of the legs, Hypoplastic... ORPHA:1865
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Posteriorly rotated ears, Aganglionic megacolon, Broad nasal tip, Tapered ... OMIM:239300
Oculodentodigital Dysplasia
Mandibular prognathia, Micrognathia, Abnormality of the ear, Clinodactyly of the 5th finger, Cond... ORPHA:2710
Acrofacial Dysostosis, Catania Type
Low-set, posteriorly rotated ears, Finger syndactyly, Microretrognathia, Short stature, Carious t... ORPHA:1786
Non-Distal Duplication 13Q
Arachnodactyly, Micrognathia, Postaxial hand polydactyly, Aplasia/Hypoplasia of the earlobes, Abn... ORPHA:1702
Saethre-Chotzen Syndrome
Long nose, Hypoplasia of the maxilla, Partial duplication of the distal phalanx of the 3rd finger... OMIM:101400
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Failure to thrive, Elevated circulating alpha-feto... OMIM:617049
Congenital Myopathy 17
Mandibular prognathia, Overlapping toe, Tapered finger, Dental malocclusion, Narrow jaw, Low-set ... OMIM:618975
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive OMIM:601847
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Brachydactyly, Depressed nasal bridge, Sandal gap, Tapered finger, Micrognathia, Bulbous nose, Wi... OMIM:617061
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Syndactyly, Anteverted ears, Clinodactyly, Multifocal epileptiform dischar... OMIM:618087
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Wide nose, Coarse facial features, Toe syndactyly, Camptodactyly of finger... ORPHA:261337
Intrahepatic Cholestasis Of Pregnancy
Tremor, Increased serum bile acid concentration, Small for gestational age, Hyperbilirubinemia ORPHA:69665
Glutamine Deficiency, Congenital
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Low-set ears, Camptodactyly, Short nose OMIM:610015
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Prominent metopic ridge, Small earlobe, Brachydactyly, Prominent nasal bridge, Underdeveloped nas... ORPHA:364577
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Prominent nose, Moon facies, Prominent fingertip pads, Thickened helices, ... OMIM:619950
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fontanel, Low-set ears... OMIM:219200
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Brachydactyly, Depressed nasal bridge, Posteriorly rotated ears, Rocker bottom foot, Tapered fing... OMIM:601353
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Reticulocytosis, Failure to thrive, Acanthocytosis, Cong... ORPHA:14
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Postnatal growth retardation, Metaphyseal widening, Dental malocclu... OMIM:608940
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
C Syndrome
Short metacarpal, Toe syndactyly, Anteverted nares, Short stature, Posteriorly rotated ears, Micr... OMIM:211750
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Bradycardia ORPHA:95716
Zellweger Syndrome
Depressed nasal bridge, Short stature, Micrognathia, External ear malformation, Wide anterior fon... ORPHA:912
Osteoglophonic Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, Short palm,... OMIM:166250
Lowry-Maclean Syndrome
Choanal atresia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Delayed eruption of p... ORPHA:2409
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93260
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Micrognathia, Delayed puberty ORPHA:2598
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Depressed nasal bridge, Short stature, Sensorineural hearing impairment, Low-set ears, Recurrent ... OMIM:619575
Pallister-Hall-Like Syndrome
Toe syndactyly, Depressed nasal bridge, Short stature, Micrognathia, Postaxial hand polydactyly, ... OMIM:241800
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxill... OMIM:601812
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Short stature, Anteverted nares, Camptodactyly of finger, Sensorineural h... ORPHA:261236
Diamond-Blackfan Anemia 6
Macrocytic anemia, Persistence of hemoglobin F, Mitral regurgitation, Increased mean corpuscular ... OMIM:612561
Fanconi Anemia, Complementation Group C
Triangular face, Short stature, Absent thumb, Absent radius, Short thumb, Intrauterine growth ret... OMIM:227645
Mosaic Variegated Aneuploidy Syndrome
Low-set, posteriorly rotated ears, Wide nose, Short stature, Micrognathia, Depressed nasal ridge,... ORPHA:1052
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Abnormal pinna morphology, Postaxial polydactyly, Postnatal growth retardation, Epiph... OMIM:302960
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Waardenburg Syndrome Type 1
Mandibular prognathia, Aganglionic megacolon, Underdeveloped nasal alae, Congenital sensorineural... ORPHA:894
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Peroxisome Biogenesis Disorder 7A (Zellweger)
Posteriorly rotated ears, Wide anterior fontanel, Epiphyseal stippling, Low-set ears, Flat face OMIM:614872
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg... OMIM:618278
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Persistent open anterior fontanelle, Arachnodactyly, Protruding ear, Camptodactyly, Short nose, A... OMIM:615539
Meckel Syndrome, Type 8
Polydactyly, Short nose, Depressed nasal ridge, Low-set ears OMIM:613885
Meier-Gorlin Syndrome 6
Microretrognathia, Severe short stature, Anteverted nares, Depressed nasal bridge, Posteriorly ro... OMIM:616835
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Cutis Laxa, Autosomal Recessive, Type Iid
Bulbous nose, Hip dislocation, Wide nasal bridge, Retrognathia, Protruding ear, Hip dysplasia, Na... OMIM:617403
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Short stature, Growth delay, Epiphyseal stippling, Abnormal epiphysis morphology, Abn... ORPHA:177
Pfeiffer Syndrome
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Broad thumb, Triangular face, Brachydactyly OMIM:614526
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Long nose, Triangular face ORPHA:85327
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Short stature, Sandal gap, Prominent nose, Postnatal growth retardation, M... OMIM:156200
Multiple Sulfatase Deficiency
Coarse facial features, Anteverted nares, Short stature, Broad hallux, Broad thumb, Flat face, He... OMIM:272200
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Brachydactyly, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, ... OMIM:610759
Opsismodysplasia
Short metacarpal, Rhizomelia, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears,... OMIM:258480
Robinow-Sorauf Syndrome
Hallux valgus, Broad hallux, Craniosynostosis, Long nose, Pansynostosis, Broad thumb, Duplication... OMIM:180750
Insulin-Like Growth Factor I Deficiency
Short stature, Micrognathia, Postnatal growth retardation, Sensorineural hearing impairment, Clin... OMIM:608747
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Osteogenesis Imperfecta, Type X
Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micrognathia, Dentinogenesis im... OMIM:613848
Aymé-Gripp Syndrome
Prominent metopic ridge, Depressed nasal bridge, Short stature, Craniosynostosis, Posteriorly rot... ORPHA:1272
Hypotonia, Ataxia, And Delayed Development Syndrome
Anteverted nares, Prominent nasal bridge, Short stature, Broad nasal tip, Posteriorly rotated ear... OMIM:617330
Fg Syndrome 5
Metopic synostosis, Depressed nasal bridge, Anteverted nares, Short nose OMIM:300581
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Short palm, Delayed eruption of teeth, Mild postnatal growth retardation, Depressed nasal bridge,... OMIM:235510
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... OMIM:101200
Branchiootic Syndrome
Facial palsy, Facial asymmetry, Micrognathia, Sensorineural hearing impairment, Abnormality of th... ORPHA:52429
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Optic atrophy, Hip dysplasia, Delaye... ORPHA:496790
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Narrow face, Anteverted nares, Short stature, Micrognathia, In... ORPHA:1915
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Prominent nose, Micrognathia, Protruding ear, Prominent fingertip pads, Cl... OMIM:612474
Donnai-Barrow Syndrome
Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Wide anterior fontanel, Sensor... OMIM:222448
Vici Syndrome
Wide nose, Depressed nasal bridge, Micrognathia, Postnatal growth retardation, Sensorineural hear... OMIM:242840
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Geleophysic Dysplasia 1
Round face, Anteverted nares, Short stature, Camptodactyly of finger, Coxa valga, Hypoplasia of t... OMIM:231050
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Round face, Depressed nasal bridge, Anteverted nares, Prominent nasal brid... OMIM:300912
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Coarse facial features, Brachydactyly, Abnormal pinna morphol... OMIM:610253
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverte... OMIM:200600
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Mandibular prognathia, Posteriorly rotated ears, Prominent nasal bridge, Arachnodactyly, Low-set ... OMIM:617011
Alagille Syndrome 2
Long nose, Triangular face OMIM:610205
Maternal Uniparental Disomy Of Chromosome 6
Intrauterine growth retardation, Slender long bone, Triangular face ORPHA:96181
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Large for gestational age OMIM:619075
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Bowing of the legs, Micrognathia, Depressed nasal ridge, Knee flexion contracture, Abnormal calci... OMIM:271665
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Round face, Severe short stature, Bowing of the long bones, Broad long bones, Micrognathia, Metap... OMIM:224400
Brain Malformations With Or Without Urinary Tract Defects
Anteverted nares, Overfolded helix, Low-set ears, Metopic synostosis, Broad face, Short nose OMIM:613735
Wilson Disease
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Dystonia, Trem... OMIM:277900
Camptodactyly Syndrome, Guadalajara Type 3
Abnormal pinna morphology, Broad nasal tip, Thickened cortex of long bones, Small hand, Retrognat... ORPHA:488434
Warburg Micro Syndrome 2
Overlapping toe, Prominent nasal bridge, Asymmetry of the ears, Postnatal growth retardation, Opt... OMIM:614225
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Short nose, Short stature, Postaxial hand polydactyly ORPHA:1389
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Triangular face, Anteverted nares, Short stature, Overlapping toe, Broad n... OMIM:617402
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Elevated circ... ORPHA:90038
Down Syndrome
Depressed nasal bridge, Sandal gap, Aganglionic megacolon, Depressed nasal ridge, Clinodactyly of... ORPHA:870
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93259
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Depressed nasal bridge, Tarsal synostosis, Camptodactyly of finger, Hea... ORPHA:90652
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Micrognathia, Multiple joint dislocation, Knee dislocation, Shoulder dislocation, Prominent antit... OMIM:245600
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Myocardial infarction, Abn... ORPHA:447
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Short stature, Aganglionic megacolon, Broad nasal tip, Sensorineural hearing impairment, Wide nas... OMIM:614207
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Micrognathia, EEG abnormality,... ORPHA:314655
Malan Syndrome
Mandibular prognathia, Narrow face, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Adva... OMIM:614753
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Brachydactyly, Prominent nasal bridge, Short thumb, Wide ... ORPHA:401935
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... OMIM:259720
Opsismodysplasia
Severe short stature, Depressed nasal bridge, Tapered finger, Squared iliac bones, Hypoplastic pu... ORPHA:2746
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Tremor, Hyperam... ORPHA:3008
Dend Syndrome
Prominent metopic ridge, Anteverted nares, Thickened ears, Hypsarrhythmia, Clinodactyly of the 4t... ORPHA:79134
Larsen Syndrome
Vertebral fusion, Short metacarpal, Depressed nasal bridge, Short stature, Spatulate thumbs, Elbo... OMIM:150250
Noonan Syndrome 1
Brachydactyly, Short stature, Micrognathia, Postnatal growth retardation, Sensorineural hearing i... OMIM:163950
Woodhouse-Sakati Syndrome
Prominent nasal bridge, Sensorineural hearing impairment, Protruding ear, Triangular face, Hearin... OMIM:241080
Degcags Syndrome
Prominent nose, Micrognathia, Abnormal facial shape, Syndactyly, Anteverted nares, Short thumb, L... OMIM:619488
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Broad finger, Abnormal auditory evoked potentials OMIM:617523
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Short stature, Prominent nasal bridge, Proximal placement of thumb, Tapered... ORPHA:251071
9Q31.1Q31.3 Microdeletion Syndrome
Mandibular prognathia, Short stature, Tapered finger, Broad nasal tip, Small hand, Short clavicle... ORPHA:401923
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Microretrognathia, Abnormal pinna morphology, Short stature, Multiple pterygia, Pterygium, Flat face OMIM:177980
19P13.13 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Sandal gap, Optic nerve hypoplasia, Long fingers, Clino... ORPHA:357001
Ollier Disease
Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal cartilage morphology ORPHA:296
Cockayne Syndrome Type 1
Long face, Absent brainstem auditory responses, Mandibular prognathia, Delayed eruption of primar... ORPHA:90321
Oculodentodigital Dysplasia
Narrow nasal bridge, Anteverted nares, Abnormal pinna morphology, Underdeveloped nasal alae, Cari... OMIM:164200
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Depressed nasal bridge, Ante... ORPHA:50945
3C Syndrome
Finger syndactyly, Depressed nasal bridge, Short stature, Micrognathia, Postnatal growth retardat... ORPHA:7
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hypoplasia of the nasal bone, Moderate postnatal growth retardation, Knee flexio... OMIM:118650
Wiedemann-Steiner Syndrome
Round face, Rhizomelia, Short stature, Tapered finger, Postnatal growth retardation, Clinodactyly... ORPHA:319182
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Long nose, Clinodactyly of the 5th finger, Small earlobe, Anteverted nares, Short stature, Tapere... OMIM:619522
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Vert... OMIM:268310
Warburg Micro Syndrome 3
Micrognathia, Postnatal growth retardation, Optic atrophy, Ankle clonus, Clinodactyly of the 5th ... OMIM:614222
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Micrognathia, Metaphyseal widening, Multiple joint dislocation, Depressed nasal bridge, Anteverte... ORPHA:536467
Toriello-Lacassie-Droste Syndrome
Brachydactyly, Anteverted nares, Aganglionic megacolon, Abnormality of the ear, Growth delay, Abn... ORPHA:3339
Chops Syndrome
Round face, Coarse facial features, Anteverted nares, Short stature, Brachydactyly, Optic atrophy... OMIM:616368
Richieri Costa-Da Silva Syndrome
Joint dislocation, Short stature, Metatarsus adductus, Genu valgum, Low-set ears, Flat face ORPHA:3101
Mandibuloacral Dysplasia Progeroid Syndrome
Short stature, Depressed nasal bridge, Narrow nasal ridge, Underdeveloped nasal alae, Postnatal g... OMIM:619127
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Rocker bottom foot, M... ORPHA:521426
Cockayne Syndrome A
Mandibular prognathia, Prominent nose, Ivory epiphyses of the phalanges of the hand, Square pelvi... OMIM:216400
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Short stature, Underdeveloped nasal alae, Sensorineural hearing impair... ORPHA:2315
Trigonocephaly 1
Metopic synostosis, Short nose, Wide nasal bridge, Craniosynostosis OMIM:190440
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Short stature, Facial asymmetry, Micrognathia, Wide nasal bridge, Microtia, Int... ORPHA:2282
Distal Deletion 9P
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Wide nasal bridge, Abnorma... ORPHA:1642
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Joint dislocation, Long toe, Bowing of the long bones, Genu recurvatum, Short stature, Phalangeal... OMIM:130070
Alagille Syndrome
Hypoplasia of the ulna, Round face, Coarse facial features, Micrognathia, Long nose, Protruding e... ORPHA:52
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge OMIM:200130
Graft Versus Host Disease
Tachycardia, Hepatosplenomegaly, Hemophagocytosis, Hyperbilirubinemia, Failure to thrive ORPHA:39812
3Mc Syndrome
Abnormal pinna morphology, Craniosynostosis, Hearing impairment, Abnormal nasal morphology, Postn... ORPHA:293843
Rhombencephalosynapsis
Low-set, posteriorly rotated ears, Finger syndactyly, Septo-optic dysplasia, Microretrognathia, A... ORPHA:59315
Developmental And Epileptic Encephalopathy 75
Optic disc pallor, Anteverted nares, Optic atrophy, Wide nasal bridge, Hypsarrhythmia, Short nose OMIM:618437
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Brachydactyly, Anosmia, Genu valgum, Hypoplasia of the zygomatic bone, Abnormal metacarpal morpho... ORPHA:1295
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... OMIM:608836
Reynolds Syndrome
Calcinosis, Gastrointestinal hemorrhage, Raynaud phenomenon, Splenomegaly, Lip telangiectasia, Pa... OMIM:613471
Orofaciodigital Syndrome Type 10
Depressed nasal bridge, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Short tibi... ORPHA:2756
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Hip dislocation, Coxa vara, Flattened epiphysis, Neonatal short-trunk sho... OMIM:183900
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Short stature, Overlapping toe, Bulbous nose, Wide nasal bridge, Protruding ea... OMIM:618571
5Q14.3 Microdeletion Syndrome
Short nose, Toe syndactyly, Anteverted nares, Optic nerve hypoplasia ORPHA:228384
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Low-set, posteriorly rotated ears, Mandibular prognathia, Arachnodactyly, Prominent nasal bridge,... ORPHA:457359
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Clinodactyly, Femoral bowing, Choanal stenosis, Conductive hearing impairment, Abnormality of the... ORPHA:95699
Omodysplasia 1
Micrognathia, Limited elbow flexion, Short tibia, Rhizomelia, Depressed nasal bridge, Increased f... OMIM:258315
Acromesomelic Dysplasia 1
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Disproportionate short stature, Lim... OMIM:602875
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Tapered finger, Wide nasal bridg... OMIM:613603
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Tapere... OMIM:301040
Coffin-Siris Syndrome
Delayed eruption of teeth, Coarse facial features, Depressed nasal bridge, Anteverted nares, Broa... ORPHA:1465
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Fontaine Progeroid Syndrome
Mandibular prognathia, Syndactyly, Triangular face, Depressed nasal bridge, Short stature, Cranio... OMIM:612289
Orofaciodigital Syndrome Type 4
Joint dislocation, Micrognathia, Depressed nasal ridge, Abnormality of the ear, Conductive hearin... ORPHA:2753
Tetrasomy 12P
Delayed eruption of teeth, Coarse facial features, Anteverted nares, Short stature, Short nose ORPHA:884
Schneckenbecken Dysplasia
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Advanced ossification of carpal... OMIM:269250
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Bainbridge-Ropers Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Broa... OMIM:615485
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Short stature, Anteverted nares, Arachnodactyly, Abnormal thumb morpholog... ORPHA:2719
Raine Syndrome
Mandibular prognathia, Natal tooth, Mixed hearing impairment, Bowing of the long bones, Depressed... OMIM:259775
Micro Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Micrognathia, Optic atrophy, ... ORPHA:2510
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Hypoplasia of the zygomatic bone, Short nose, Depressed nasal bridge, Short stature ORPHA:2835
Toriello-Carey Syndrome
Brachydactyly, Short stature, Abnormal pinna morphology, Aganglionic megacolon, Micrognathia, Pos... ORPHA:3338
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Long face, Underdeveloped nasal alae, Prominent nose, Micrognathia, Sensorineural hearing impairm... ORPHA:90024
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Overlapping toe, Micrognathia... OMIM:617822
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Long nose, Narrow greater sciatic notch, Abnormal facial sh... ORPHA:508533
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Coxa vara, Protruding ear, Tibial bowing, Hypoplastic iliac wing, Small earlobe, Genu varum, Vert... ORPHA:93315
Parenteral Nutrition-Associated Cholestasis
Small for gestational age, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Hype... ORPHA:567983
Myoectodermal Gonadal Dysgenesis Syndrome
Short stature, Posteriorly rotated ears, Underdeveloped nasal alae, Bifid distal phalanx of the t... OMIM:618419
Peho Syndrome
Tapered finger, Optic atrophy, Hypsarrhythmia, Short nose, Retrognathia OMIM:260565
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Short stature, Micrognathia, Optic atrophy, Large earlobe, Short nose OMIM:615851
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Thick nasal septum, Protruding ea... OMIM:303600
Cerebrooculonasal Syndrome
Anteverted nares, Prominent nasal bridge, Proboscis, Craniosynostosis, Postnatal growth retardati... OMIM:605627
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Short nose, Anteverted nares, Long hallux, Tapered finger OMIM:619854
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Optic atrophy, Retrognathia, Hypoplasia of teeth, Growth delay, Short nose, Mac... OMIM:234050
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Congenital hip dislocation, Short stature, Anteverted nares, Delayed closure of the anterior font... ORPHA:357074
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Failure to thrive, Small for gestational age, Thrombocytopenia OMIM:208085
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow nasal ridge, Micrognathia, Bird-like facies, Hypoplasia of teeth, Growth delay, Short clav... OMIM:608612
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Posteriorly rotated ears, Long nose, Optic atrophy, Slender long bone, Lo... OMIM:618590
Woodhouse-Sakati Syndrome
Prominent nose, Protruding ear, Growth delay, Bilateral sensorineural hearing impairment, Delayed... ORPHA:3464
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, H... OMIM:617093
Congenital Disorder Of Glycosylation, Type Iie
Wide nose, Overlapping fingers, Short stature, Micrognathia, Sensorineural hearing impairment, Gr... OMIM:608779
Teebi Hypertelorism Syndrome 1
Natal tooth, Depressed nasal bridge, Short stature, Anteverted nares, Sagittal craniosynostosis, ... OMIM:145420
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Small earlobe, Genu varum, Long toe, Depressed nasal bridge, Anteverted nares, Narr... OMIM:264090
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Multifocal epileptiform dischar... OMIM:615398
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Underdeveloped nasal alae, Aplasia/Hypoplasia of the distal ph... ORPHA:1234
Spondyloepiphyseal Dysplasia Tarda
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... ORPHA:93284
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Depressed nasal bridge, Posteriorly rotated ears, Bowed humerus, W... OMIM:619479
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Brachydactyly, Depressed nasal bridge, Short stature, Anteverted nares, Micrognathia,... OMIM:616894
Icf Syndrome
Depressed nasal bridge, Short stature, Micrognathia, Low-set ears, Flat face ORPHA:2268
Au-Kline Syndrome
Prominent metopic ridge, Overlapping toe, Prominent nasal bridge, Wide nasal ridge, Underdevelope... OMIM:616580
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Aplasia of the ulna, Micrognathia, Abnormal tibia morpho... ORPHA:2879
Acrocallosal Syndrome
Mandibular prognathia, Clinodactyly of the 5th finger, Microretrognathia, Finger syndactyly, Tape... OMIM:200990
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Congenital Disorder Of Glycosylation, Type Iu
Short nose, Optic atrophy, Micrognathia OMIM:615042
Nablus Mask-Like Facial Syndrome
Small earlobe, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Posteriorly rotated ea... OMIM:608156
Distal Xq28 Microduplication Syndrome
Epistaxis, Neonatal hyperbilirubinemia ORPHA:293939
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Increased density of long bones, Tibial bowing, Choanal stenosis... OMIM:269150
Proximal 16P11.2 Microduplication Syndrome
Arachnodactyly, Microtia, Short stature, Flat face ORPHA:370079
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Coarse facial features, Depressed nasal bridge, Short st... OMIM:115150
Adenylosuccinase Deficiency
Prominent metopic ridge, Anteverted nares, Growth delay, Low-set ears, Short nose OMIM:103050
Lathosterolosis
Prominent metopic ridge, Toe syndactyly, Anteverted nares, Micrognathia, Bulbous nose, Postaxial ... ORPHA:46059
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose ORPHA:833
Trisomy 20P
Low-set, posteriorly rotated ears, Finger syndactyly, Round face, Anteverted nares, Camptodactyly... ORPHA:261318
Diaphanospondylodysostosis
Depressed nasal bridge, Micrognathia, Depressed nasal ridge, Disproportionate short-trunk short s... OMIM:608022
Peho Syndrome
Anteverted nares, Tapered finger, External ear malformation, Optic atrophy, Hypsarrhythmia, EEG a... ORPHA:2836
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Round face, Anteverted nares, Posteriorly rotated ears, Rocker bottom foot, Mi... OMIM:214100
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytosis OMIM:608885
Stiff-Person Syndrome
Exaggerated startle response, Tachycardia, Opisthotonus, Hypertension, Anemia OMIM:184850
3Q29 Microdeletion Syndrome
Narrow face, Prominent nasal bridge, Facial asymmetry, Tapered finger, Low-set ears, Clinodactyly... ORPHA:65286
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Iron deficiency a... ORPHA:97214
Chromosome 16P13.3 Duplication Syndrome
Proximal placement of thumb, Micrognathia, Protruding ear, Long face, Depressed nasal bridge, Ant... OMIM:613458
Menke-Hennekam Syndrome 1
Short ear, Micrognathia, Depressed nasal ridge, Protruding ear, Cutaneous syndactyly of toes, Cli... OMIM:618332
Mend Syndrome
Short stature, Prominent nasal bridge, Abnormal auditory evoked potentials, Broad hallux, Overlap... ORPHA:401973
Caroli Syndrome
Portal hypertension, Conjugated hyperbilirubinemia, Hypersplenism, Leukocytosis, Hematemesis, Mel... ORPHA:480520
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Brachydactyly, Depressed nasal bridge, Rhizomelia, Anteverted nares, Flat ... OMIM:271510
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Abnormal pinna morphology, Depressed nasal bridge, Proximal placement of thumb, Antev... OMIM:217980
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depressed nasal ridge, Pat... OMIM:114290
Mucolipidosis Type Ii
Hip contracture, Prominent metopic ridge, Coarse facial features, Depressed nasal bridge, Short s... ORPHA:576
Kaufman Oculocerebrofacial Syndrome
Optic disc pallor, Narrow face, Congenital hip dislocation, Depressed nasal bridge, Short stature... OMIM:244450
Macrocephaly-Intellectual Disability-Autism Syndrome
Preaxial hand polydactyly, Short nose, Depressed nasal bridge, Foot polydactyly ORPHA:210548
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Failure to thrive OMIM:613404
Developmental Delay With Or Without Dysmorphic Facies And Autism
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Short stature, Posteriorly rota... OMIM:618454
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Micrognathia, Po... OMIM:263750
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome
Round face, Flat face ORPHA:2536
Kleefstra Syndrome
Mandibular prognathia, Delayed eruption of teeth, Coarse facial features, Anteverted nares, Short... ORPHA:261494
Poikiloderma With Neutropenia
Short stature, Depressed nasal bridge, Underdeveloped nasal alae, Micrognathia, Carious teeth, Gr... OMIM:604173
Cystic Echinococcosis
Weight loss, Eosinophilia, Hyperbilirubinemia, Splenic cyst ORPHA:400
Mogs-Cdg
Absent brainstem auditory responses, Wide nose, Sensorineural hearing impairment, Optic atrophy, ... ORPHA:79330
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... OMIM:607330
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Vertebral fusion, Wide nose, Hyperextensibility of the finger joints, Anteverted nares, Short sta... OMIM:213980
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Tachycardia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Desmosterolosis
Low-set, posteriorly rotated ears, Severe short stature, Depressed nasal bridge, Abnormality of t... ORPHA:35107
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Coarse facial features, Depressed nasal bridge, Short stature,... ORPHA:1340
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Splenomegaly, Spider hemangioma, Increased total bilirubin ORPHA:2137
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Depressed nasal bridge, Short stature, Anteverted nares, ... OMIM:146510
Yellow Fever
Shock, Neutrophilia, Elevated circulating creatine kinase concentration, Supraventricular arrhyth... ORPHA:99829
Robinow Syndrome, Autosomal Dominant 1
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Depr... OMIM:180700
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Mixed hearing impairment, Short femur, Depressed nasal bridge, Short s... OMIM:300990
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Short stature, Depressed nasal bridge, Anteverted nares, Severe postnatal growth retardation, Con... OMIM:613038
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Small for gestational age, Conjugated hyperbilirub... OMIM:614866
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Bradycardia, Hypercholesterolemia, Failure to thrive, N... ORPHA:90674
Autosomal Dominant Cutis Laxa
Genu recurvatum, Postnatal growth retardation, Hip dislocation, Protruding ear, Low-set ears, Wor... ORPHA:90348
Blepharocheilodontic Syndrome 1
Clinodactyly, Flat face, Choanal atresia, Cutaneous syndactyly OMIM:119580
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix OMIM:245650
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Depressed nasal ridge, D... ORPHA:1791
Gapo Syndrome
Depressed nasal bridge, Anteverted nares, Delayed closure of the anterior fontanelle, Facial pals... OMIM:230740
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Heart murmur, Intracranial hemorrhage, Hypocalcemia, Hyperbilirubinemia, Anemia ORPHA:163979
Hennekam Syndrome
Delayed eruption of teeth, Finger syndactyly, Mild postnatal growth retardation, Camptodactyly of... ORPHA:2136
Musculocontractural Ehlers-Danlos Syndrome
Low-set, posteriorly rotated ears, Microretrognathia, Recurrent joint dislocation, Craniosynostos... ORPHA:2953
Autosomal Dominant Robinow Syndrome
Micrognathia, Coxa vara, Short palm, Clinodactyly of the 5th finger, Finger syndactyly, Depressed... ORPHA:3107
Slc39A8-Cdg
Short stature, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Hypsarrhyth... ORPHA:468699
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Autosomal Recessive Robinow Syndrome
Micrognathia, Clinodactyly of the 5th finger, Chronic otitis media, Synostosis of carpal bones, L... ORPHA:1507
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Depressed nasal bridge, Anteverted nares, Asymmetry of the ears, EEG with burs... OMIM:619124
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Craniosynostosis, Optic disc coloboma, Choanal stenosis, Low-set ears, Short no... ORPHA:1790
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Anteverted nares, Posteriorly rotated ears, Micrognathia, Wide nasal b... OMIM:247200
Ring Chromosome 7 Syndrome
Mandibular prognathia, Small earlobe, Anteverted nares, Prominent nasal bridge, Short stature, Pr... ORPHA:1449
Alagille Syndrome 1
Hypoplasia of the ulna, Depressed nasal bridge, Long nose, Bulbous nose, Concave nasal ridge, Low... OMIM:118450
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Short nose, Optic atrophy, Sensorineural hearing impairment OMIM:614863
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Coarse facial features, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micro... OMIM:614080
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Wide nose, Coarse facial features, Arachnodactyly, Thin metatarsal cortices, Abnormal columella m... ORPHA:2463
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Broad hallux, Depressed nasal bridge, Anteverted nares, Bulbous nose, Short nose OMIM:614105
Vulto-Van Silfhout-De Vries Syndrome
Prominent fingertip pads, 2-3 toe cutaneous syndactyly, Flat face, Mandibular prognathia OMIM:615828
Trisomy 8P
Short fourth metatarsal, Clinodactyly of the 5th finger, Conductive hearing impairment, Depressed... ORPHA:264450
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Sandal gap, Depressed nasal bridge, Abnormal dental enamel morphology, Abnormal fibula morphology... ORPHA:1812
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Depressed nasal bridge, Short stature, Anteverted nares, Posteriorly rotated ears, Pos... OMIM:257300
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Round face, Depressed nasal bridge, Bulbous nose, Low-set ears, Flat face OMIM:619103
Wiedemann-Rautenstrauch Syndrome
Abnormality of the ear, Long toe, Anteverted nares, Short stature, 2-3 toe syndactyly, Low-set ea... ORPHA:3455
Skin Creases, Congenital Symmetric Circumferential, 1
Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Long fingers, Low-set ears, Overf... OMIM:156610
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, Opisthotonus ORPHA:95232
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Tapered toe, Shoulder flexion contracture, Micrognathia, Elbow flexion contractu... OMIM:620369
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Distal Deletion 12Q
Micrognathia, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Clinodactyly of the 5th... ORPHA:96149
Fumarase Deficiency
Failure to thrive, Polycythemia, Hyperbilirubinemia OMIM:606812
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Micrognathia, EEG with burst suppression, Optic atrophy, Dental malocclusion, Abnormal facial sha... ORPHA:329178
Smith-Kingsmore Syndrome
Rhizomelia, Depressed nasal bridge, Short proximal phalanx of finger, Wide anterior fontanel, Sho... OMIM:616638
Stickler Syndrome
Joint dislocation, Short stature, Anteverted nares, Depressed nasal bridge, Protrusio acetabuli, ... ORPHA:828
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Arachnodactyly, Delayed cranial suture closure, Micrognathia ORPHA:1129
Caroli Disease
Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Weight loss, Abno... ORPHA:53035
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Underfolded helix, ... OMIM:268400
Achondrogenesis, Type Ib
Hypoplastic ilia, Neonatal short-limb short stature, Flat face OMIM:600972
Blepharocheilodontic Syndrome 2
Flat face, Cutaneous syndactyly, Facial asymmetry OMIM:617681
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Desmosterolosis
Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Posteriorly rotated ears, Micrognathia, C... OMIM:602398
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Short stature, Retrognathia, Protruding ear, Growth delay, Microtia, Shor... OMIM:301030
Isolated Biliary Atresia
Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Xanthelasma, Severe failu... ORPHA:30391
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... ORPHA:79277
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Round face, Anteverted nares, Short ... ORPHA:444077
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Coarse facial features, Posteriorly rotated ears, Rocker bottom foot, Postaxial polydactyly, Micr... OMIM:617527
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly ORPHA:168577
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short stature, Ab... OMIM:134780
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Large iliac... OMIM:271640
Microlissencephaly-Micromelia Syndrome
EEG abnormality, Short nose, Coarse facial features, Adducted thumb ORPHA:50810
Skin Creases, Congenital Symmetric Circumferential, 2
Depressed nasal bridge, Short stature, Uplifted earlobe, Posteriorly rotated ears, Tapered finger... OMIM:616734
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anteverted nares, Short stature, Aganglionic megacolon, Sensorineural hearing impairment, Depress... ORPHA:847
Congenital Heart Defects And Skeletal Malformations Syndrome
Short stature, Arachnodactyly, Sandal gap, Long nose, Carious teeth, Camptodactyly, Clinodactyly ... OMIM:617602
Jaberi-Elahi Syndrome
Depressed nasal bridge, Optic atrophy, Protruding ear, Low-set ears, Short nose OMIM:617988
Multiple Osteochondromas
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Fem... ORPHA:321
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Schinzel-Giedion Syndrome
Micrognathia, Tibial bowing, Choanal stenosis, Wide anterior fontanel, Hypsarrhythmia, Abnormal c... ORPHA:798
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Coarse facial features, Depressed nasal bridge, Advanced eruption of teeth, Short nose, Broad col... OMIM:617865
Kleefstra Syndrome Due To 9Q34 Microdeletion
Growth delay, Short nose, Anteverted nares, Hearing impairment ORPHA:96147
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Holoprosencephaly 7
Hypoplasia of the premaxilla, Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, ... OMIM:610828
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Mixed hearing impairment, Brachydactyly, Depressed nasal br... ORPHA:97360
Alpha-Mannosidosis, Infantile Form
Mandibular prognathia, Optic disc pallor, Mixed hearing impairment, Coarse facial features, Depre... ORPHA:309282
X-Linked Intellectual Disability, Cantagrel Type
Short nose ORPHA:85277
9q subtelomeric deletion syndrome
Short nose, Anteverted nares DECIPHER:52
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Microretrognathia, Anteverted nares, Wide nasal bridge, Growth delay, Low-set ears, Intrauterine ... OMIM:614052
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Narrow nasal ridge, Low-set ears, Short nose, Tinnitus, Triangular face OMIM:606721
Isotretinoin-Like Syndrome
Anteverted nares, Micrognathia, Postnatal growth retardation, Aplasia/Hypoplasia of the inner ear... ORPHA:2306
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Bowing of the long bones, Short stature, Hypoplastic ilia, Hip dislocation,... OMIM:615349
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Narrow nasal bridge, Hallux valgus, Prominent nasal bridge, Prominent nose, Synostosis involving ... ORPHA:466791
Mirizzi Syndrome
Tachycardia, Hyperbilirubinemia ORPHA:521219
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Hypoalbuminemia, Abn... ORPHA:186
Monosomy 22
Low-set, posteriorly rotated ears, Finger syndactyly, Wide nose, Clubbing, Joint swelling, Promin... ORPHA:96123
Khan-Khan-Katsanis Syndrome
Short stature, Delayed closure of the anterior fontanelle, Postaxial polydactyly, Micrognathia, S... OMIM:618460
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Brachydactyly, Anteverted nares, Short stature, Overlapping toe, Broad nasal... ORPHA:177907
Senior-Boichis Syndrome
Portal hypertension, Hepatosplenomegaly, Hypertension, Anemia, Increased total bilirubin ORPHA:84081
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Ogden Syndrome
Torticollis, Premature atrial contractions, Ventricular tachycardia, Premature ventricular contra... OMIM:300855
Hyperekplexia 3
Exaggerated startle response, Syncope OMIM:614618
Alg9-Cdg
Low-set, posteriorly rotated ears, Microretrognathia, Prominent metopic ridge, Hitchhiker thumb, ... ORPHA:79328
Renal And Mullerian Duct Hypoplasia
Severe postnatal growth retardation, Short nose, Micrognathia OMIM:266810
Jacobsen Syndrome
Low-set, posteriorly rotated ears, Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Short... ORPHA:2308
Alkaptonuria
Joint dislocation, Abnormality of the nose, Cartilage destruction, Hearing abnormality, Osteoarth... ORPHA:56
Deeah Syndrome
Overlapping fingers, Short stature, Hearing impairment, EEG abnormality, Low-set ears, Prominent ... OMIM:619004
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger OMIM:277450
Carey-Fineman-Ziter Syndrome
Anteverted nares, Short stature, Facial palsy, Micrognathia, Ulnar deviation of finger, Growth de... ORPHA:1358
Bartsocas-Papas Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Pterygium, Short phalanx of fing... OMIM:263650
Helsmoortel-Van Der Aa Syndrome
Short 4th toe, Prominent fingertip pads, Clinodactyly of the 5th finger, Advanced eruption of tee... OMIM:615873
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Round face, Depressed nasal bridge, Micrognathia, Wide nasal bri... ORPHA:2062
Schwartz-Jampel Syndrome
Micrognathia, Coxa vara, Wrist flexion contracture, Low-set, posteriorly rotated ears, Short stat... ORPHA:800
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Growth delay, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Micrognathia, Aplasia of the... ORPHA:476126
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Torticollis, Isometric tremor, Failure to thrive, Head titubation, Congesti... OMIM:619475
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive OMIM:618201
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia,... OMIM:229600
Pontocerebellar Hypoplasia, Type 10
Underdeveloped nasal alae, Tapered finger, Bulbous nose, Wide nasal bridge, Growth delay, Short n... OMIM:615803
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Camptodactyly Syndrome, Guadalajara, Type Iii
Abnormal pinna morphology, Absent phalangeal crease, Retrognathia, Joint contracture of the hand,... OMIM:611929
White-Kernohan Syndrome
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Retrognathia, Hip dysplasia,... OMIM:619426
Arterial Tortuosity Syndrome
Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necrosis of the capit... ORPHA:3342
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Budd-Chiari syndrome, Lym... OMIM:127550
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hypoplastic scapulae, Abnormal pinna morphology, Posteriorly rotated ears, Bowing of... OMIM:269860
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short stature, Hip dislocation, Wide nasal bridge, Intrauterine growth retardation, Short nose, R... OMIM:618005
Cornelia De Lange Syndrome
Proximal placement of thumb, Micrognathia, Conductive hearing impairment, Clinodactyly of the 5th... ORPHA:199
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short stature, Acroosteolysis of distal phalanges (feet), Abnormal fingertip morphology, Microgna... ORPHA:90154
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Micrognathia, Increased femo... OMIM:619005
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Bartter Syndrome Type 4
Triangular face, Bilateral sensorineural hearing impairment, Protruding ear ORPHA:89938
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Short stature, Prominent nasal bridge, Broad nasal tip, Underdeveloped nasal alae,... ORPHA:268261
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia OMIM:218700
Branchioskeletogenital Syndrome
Attached earlobe, Amelia involving the lower limbs, Mixed hearing impairment, Mandibular prognath... ORPHA:1299
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... ORPHA:124
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Small for gestational age, Portal hypertension, Hypoalbuminemia, Hypocalcemia, Unco... OMIM:613658
Macrocephaly/Autism Syndrome
Recurrent otitis media, Short nose, Depressed nasal bridge OMIM:605309
Cerebrofaciothoracic Dysplasia
Low-set, posteriorly rotated ears, Wide nose, Short stature, Short nose ORPHA:1394
Trichothiodystrophy 1, Photosensitive
Short stature, Retrognathia, Protruding ear, Short nose, Macrotia OMIM:601675
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Anteverted nares, Flat face OMIM:618154
Microcephaly 26, Primary, Autosomal Dominant
Short nose, Prominent nasal bridge, Short stature, Wide nasal bridge OMIM:619179
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Microretrognathia, Coarse facial features, Brachydactyly, Anteverted nares, Asymmetric crying fac... ORPHA:280633
Bannayan-Riley-Ruvalcaba Syndrome
Wide nose, Short stature, Anteverted nares, Micrognathia, Short nose, Macrotia, Broad thumb ORPHA:109
Microform Holoprosencephaly
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Short stature, Intraut... ORPHA:280200
Noonan Syndrome 3
Hypoplastic nasal bridge, Short stature, Anteverted nares, Sagittal craniosynostosis, Thickened h... OMIM:609942
Hardikar Syndrome
Portal hypertension, Hypersplenism, Splenomegaly, Hematemesis, Hepatosplenomegaly, Hypertension, ... OMIM:301068
Lipodystrophy, Congenital Generalized, Type 1
Mandibular prognathia, Macrotia, Triangular face OMIM:608594
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint dislocation, Microretrognathia, Posteriorly rotated ears, Arachnodactyly, Facial asymmetry,... OMIM:601776
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Acrocephalopolydactylous Dysplasia
Abnormal pinna morphology, Craniosynostosis, Postaxial hand polydactyly, Low-set ears, Short nose OMIM:200995
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Conduc... OMIM:304120
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Round face, Prominent nasal bridge, Short toe, Wide nasal bridge, Abnormal hel... ORPHA:1519
Monosomy 9P
Depressed nasal bridge, Anteverted nares, Choanal atresia, Proximal placement of thumb, Abnormali... ORPHA:261112
Jacobsen Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Optic atrophy, Low-set ears, Clinodactyly... OMIM:147791
Prolidase Deficiency
Short nose, Concave nasal ridge, Depressed nasal bridge, Micrognathia OMIM:170100
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Triangular face, 2-3 toe syndactyly OMIM:616539
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Broad thumb, Flat face, Micrognathia ORPHA:2001
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Peters Plus Syndrome
Micrognathia, Clinodactyly of the 5th finger, Conductive hearing impairment, Spina bifida occulta... ORPHA:709
Lipodystrophy, Congenital Generalized, Type 2
Mandibular prognathia, Macrotia, Triangular face OMIM:269700
X-Linked Intellectual Disability, Nascimento Type
Pulmonary arterial hypertension, Mitral stenosis, Neonatal hyperbilirubinemia, Neutropenia ORPHA:163956
Sandhoff Disease, Infantile Form
Exaggerated startle response, Mitral regurgitation, Hepatosplenomegaly ORPHA:309155
Bartter Syndrome, Type 2, Antenatal
Macrotia, Short stature, Triangular face, Chondrocalcinosis OMIM:241200
Diamond-Blackfan Anemia 1
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... OMIM:105650
Zttk Syndrome
Depressed nasal bridge, Short stature, Craniosynostosis, Hypoplasia of the maxilla, Small hand, W... OMIM:617140
Simpson-Golabi-Behmel Syndrome
Low-set, posteriorly rotated ears, Vertebral fusion, Coarse facial features, Congenital hip dislo... ORPHA:373
Aspartylglucosaminuria
Large face, Mandibular prognathia, Coarse facial features, Abnormal morphology of ulna, Carious t... ORPHA:93
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Adult-Onset Still Disease
Cartilage destruction, Recurrent pharyngitis, Joint swelling, Arthritis ORPHA:829
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Intrauterine growth retardatio... ORPHA:86822
Lymphangiectasia, Pulmonary, Congenital
Mild postnatal growth retardation, Flat face, Depressed nasal bridge, Wide nasal bridge OMIM:265300
Cranioectodermal Dysplasia 2
Splenomegaly, Hypertension, Polysplenia, Hyperbilirubinemia OMIM:613610
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... OMIM:619534
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Aplasia of the nasal bone, Micrognathia, Protruding ear, Low-set ears, Short nose, Ab... OMIM:618820
Monosomy 9Q22.3
Delayed eruption of teeth, Thickened ears, Polydactyly, Low-set ears, Metopic synostosis, Short nose ORPHA:77301
Down Syndrome
Short palm, Short stature, Sandal gap, Aganglionic megacolon, Short middle phalanx of the 5th fin... OMIM:190685
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Brachydactyly, Depressed nasal bridge, Anteverted nares, Short stature, Broad n... OMIM:617157
Ctcf-Related Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Broad hallux phalanx, Anteverted nares, Sandal gap, Craniosyno... ORPHA:363611
Moderate Hemophilia A
Arthropathy, Hip contracture, Cartilage destruction, Synovitis, Joint swelling, Joint hemorrhage ORPHA:169805
C Syndrome
Joint dislocation, Low-set, posteriorly rotated ears, Toe syndactyly, Depressed nasal bridge, Sho... ORPHA:1308
1P21.3 Microdeletion Syndrome
Short nose, Micrognathia, Long ear, Broad nasal tip ORPHA:293948
Mucopolysaccharidosis Type 7
Coarse facial features, Metatarsus adductus, Epiphyseal stippling, Abnormal hip bone morphology, ... ORPHA:584
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia, Pulmonary insufficiency OMIM:208500
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Okamoto Syndrome
Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Wid... ORPHA:2729
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Equinus calcaneus, EEG with focal sharp waves, 2-3 toe syndactyly, EEG abnormality, EEG with seri... ORPHA:522077
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Pallister-Hall Syndrome
Depressed nasal ridge, Low-set, posteriorly rotated ears, Mesoaxial polydactyly, Microretrognathi... ORPHA:672
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Depressed nasal bridge, Arachnodactyly, Proportionate short stature, Sagittal craniosynostosis, F... ORPHA:500150
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Hepatosplenomegaly, Dy... ORPHA:845
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Narrow greater sciatic notch, Short palm, Posterior helix pit, Depressed n... OMIM:312870
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Dilated cardiomyopathy, Elevated circulating creatine kinase concen... OMIM:253800
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Long toe, Posteriorly rotated ears, Depressed nasal bridge, Short stature, Tibial torsion, Postna... OMIM:613355
Geleophysic Dysplasia 2
Short stature, Cone-shaped epiphysis, Short foot, Short palm, Short nose OMIM:614185
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Narrow face, Posteriorly rotated ears, Sandal gap, Optic nerve hypoplasia,... OMIM:620330
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypertension, Failure to thrive, Hyperbilirubinemia OMIM:210710
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Failure to thrive, Hypoasparaginemia OMIM:615574
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia, Decreased circulating cortisol level OMIM:620305
Gm1-Gangliosidosis, Type Ii
Coarse facial features, Optic atrophy, Flat face, Coxa valga OMIM:230600
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Sandhoff Disease
Exaggerated startle response, Orthostatic hypotension, Hepatosplenomegaly OMIM:268800
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Pulmonary arterial hypertension, Aplasia of the thymus, Unconjugated hyperbilirubinemia OMIM:620186
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Failure to thrive OMIM:617864
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Molybdenum Cofactor Deficiency, Complementation Group B
Growth delay, Short nose, Long face OMIM:252160
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Molybdenum Cofactor Deficiency, Complementation Group A
Growth delay, Short nose, Long face OMIM:252150
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Pro... OMIM:619503
Williams Syndrome
Narrow face, Micrognathia, Protruding ear, Chronic otitis media, Clinodactyly of the 5th finger, ... ORPHA:904
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response, Cardiomyopathy, Dystonia ORPHA:79255
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Optic nerve hypoplasia, Optic atrophy, Genu valgum, Intrauterine growth retardatio... OMIM:619321
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Congenital Disorder Of Glycosylation, Type Iim
Hypertension, Neonatal hyperbilirubinemia OMIM:300896
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short nose, Optic atrophy, Coarse facial features ORPHA:505248
Williams-Beuren Syndrome
Hallux valgus, Depressed nasal bridge, Short stature, Anteverted nares, Broad nasal tip, Down-slo... OMIM:194050
Pallister-Killian Syndrome
Congenital hip dislocation, Micrognathia, Camptodactyly of 2nd-5th fingers, Short palm, Clinodact... OMIM:601803
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rhinitis, Taurodont... OMIM:305100
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Fibrochondrogenesis
Round face, Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Camptodactyly of fing... ORPHA:2021
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Short nose, Hypoplasia of the ... OMIM:229400
Encephalocraniocutaneous Lipomatosis
Abnormal cartilage morphology, Osteochondrosis ORPHA:2396
Johanson-Blizzard Syndrome
Small for gestational age, Portal hypertension, Increased VLDL cholesterol concentration, Conjuga... OMIM:243800
Reactive Arthritis
Cartilage destruction, Arthritis, Joint swelling ORPHA:29207
Penile Agenesis
Posteriorly rotated ears, Short nose, Depressed nasal bridge ORPHA:49
Vascular Ehlers-Danlos Syndrome
Narrow nasal bridge, Joint dislocation, Congenital hip dislocation, Short stature, Carious teeth,... ORPHA:286
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Decreased serum iron, Pulmonic stenosis, Dystonia, Anemia ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Col11a2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Col11a2.

No publications found that use IMPC mice or data for Col11a2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Col11a2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Col11a2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter