Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
chordin
Synonyms:
Chd

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Chrd 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Cleft palate, Malar flattening, Smooth philtrum, Thin upper lip vermilion OMIM:611867
Treacher-Collins Syndrome
Retrognathia, Microtia, Thyroid hypoplasia, Glossoptosis, Tracheoesophageal fistula, Tooth agenes... ORPHA:861
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Microtia, Thyroid hypoplasia, Prolonged neonatal jaundice, Bifid uvula,... OMIM:620186
Emanuel Syndrome
Congenital diaphragmatic hernia, Dental crowding, Kyphosis, Intestinal malrotation, Pulmonic sten... OMIM:609029
Emanuel Syndrome
Kyphoscoliosis, Congenital diaphragmatic hernia, Redundant neck skin, Breech presentation, Dental... ORPHA:96170
Pierre Robin Syndrome
Glossoptosis, Micrognathia, Pierre-Robin sequence, Cleft palate, Cor pulmonale OMIM:261800
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Short attention span OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short attention span DECIPHER:19
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Diabetic Embryopathy
Microtia, Microcephaly, Abnormal sacrum morphology, Aplasia/Hypoplasia of the cerebellum, Abnorma... ORPHA:1926
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Narrow palate, Decreased response to growth hormone stimulation test, Abnormal B cell morphology,... OMIM:618223
Verheij Syndrome
Cerebral atrophy, Retrognathia, Long philtrum, Optic nerve hypoplasia, Scoliosis, Hemivertebrae, ... OMIM:615583
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Webbed neck, Truncus arteriosus, Abnormal aortic morphology, Micrognathia, C... ORPHA:2516
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal aortic arch morphology, Aplasia/Hypoplasia of the inner ear, Gast... ORPHA:2306
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Chronic otitis media, Multiple joint dislocation, Small pituitary gland, Dental crowding, Hyperlo... OMIM:619503
Fg Syndrome Type 1
Broad neck, Small pituitary gland, Optic nerve hypoplasia, Sensorineural hearing impairment, Micr... ORPHA:93932
Double Outlet Right Ventricle
Hypoparathyroidism, Abnormality of cartilage of external ear, Truncus arteriosus, Pulmonary arter... ORPHA:3426
Holoprosencephaly-Postaxial Polydactyly Syndrome
Thyroid hypoplasia, Intestinal malrotation, Microcephaly, Hypoplasia of the premaxilla, Umbilical... ORPHA:2166
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Hydranencephaly, Truncus arteriosus, Cleft palate, Ventricular septal defect OMIM:601355
Craniofacial Microsomia 2
Microtia, Microtia, third degree, Microtia, second degree, Dermal sinus tract, Submucous cleft pa... OMIM:620444
Skraban-Deardorff Syndrome
Hypoplasia of the corpus callosum, Recurrent otitis media, Absent cupid's bow, Widely spaced teet... OMIM:617616
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Cleft palate, Short neck, Thin upper lip vermilion ORPHA:2015
Branchiootorenal Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Microdontia, Intestinal mal... OMIM:113650
22Q11.2 Deletion Syndrome
Chronic otitis media, Gastrointestinal hemorrhage, Corneal neovascularization, Abnormal aortic ar... ORPHA:567
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Single ventricle, Aplasia/Hypoplasia involving the central nervous system, Scoliosis,... OMIM:308050
Trisomy 13
Sensorineural hearing impairment, Kyphosis, Long philtrum, Intrauterine growth retardation, Optic... ORPHA:3378
Genitopalatocardiac Syndrome
Transposition of the great arteries, Right aortic arch, Low-set ears, Cleft upper lip, Micrognath... OMIM:231060
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Retrognathia, Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Nonimmune h... OMIM:265380
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Pierre-Robin sequence, Cleft palate OMIM:172880
Pallister-Hall Syndrome
Microtia, Thyroid hypoplasia, Bifid uvula, Umbilical hernia, Intrauterine growth retardation, Cen... ORPHA:672
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, B lymphocytopenia, Oral ulcer, Eosinophilia, Lymph node hypoplasia, Spleno... OMIM:602450
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Bradycardia, Optic nerve hypoplasia, Sensorineural h... ORPHA:226307
Oculoauriculofrontonasal Syndrome
Macrocephaly, Encephalocele, Scoliosis, Microtia, Narrow mouth, Microcephaly, Conductive hearing ... ORPHA:398156
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Joint contracture of the 5th finger, Scoliosis, Microtia, High palate, Cutaneous mastocytosis, Mi... OMIM:248910
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Microtia, Ectopic anus, High palate, Abnormal rib morphology, ... ORPHA:1703
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Camptodactyly Syndrome, Guadalajara Type 1
Sacral dimple, Cubitus valgus, Low-set, posteriorly rotated ears, Abnormal form of the vertebral ... ORPHA:1327
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Monosomy 22
Thin vermilion border, Retrognathia, Hypochromic microcytic anemia, Low-set, posteriorly rotated ... ORPHA:96123
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Microcephaly-Capillary Malformation Syndrome
Optic atrophy, Cerebral atrophy, Hypoplasia of the corpus callosum, Progressive microcephaly, Pat... OMIM:614261
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Pulmonary artery atresia, Ventricular septal defect, Intestinal malrotation, ... ORPHA:401935
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short ribs, Ascites, Microcephaly, Unilateral cleft lip, Cardiomegaly, Intrauterine growth retard... OMIM:616897
Auriculocondylar Syndrome 2A
Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Temporomandibular joint an... OMIM:614669
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Supernumerary tooth, Widely spaced teeth, Conical tooth, Abnormal cranial nerve morphology, Senso... ORPHA:90024
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal autonomic nervous system physiology, Microcephaly, Bifid uvula, Abnormal heart morpholog... ORPHA:453499
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Hyperplasia of the maxilla, Recurrent otitis media, Everted up... ORPHA:513456
Stankiewicz-Isidor Syndrome
Retrognathia, Truncus arteriosus, Low-set ears, Ventricular septal defect, Hearing impairment, Mi... OMIM:617516
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Retrognathia, Neoplasm of the tongue, Thyroid hypoplasia, Microcephaly, Bifid uvula, Cryptorchidi... ORPHA:3047
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Short philtrum, Mandibular prognathia, Bilateral sensorineural hearing impairment, Thyroid hypopl... ORPHA:521445
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Mosaic Trisomy 9
Intestinal malrotation, Microcephaly, Intrauterine growth retardation, Oligohydramnios, Hip dislo... ORPHA:99776
Distal 22Q11.2 Microdeletion Syndrome
Abnormal earlobe morphology, Sensorineural hearing impairment, Hyperlordosis, Microcephaly, Prema... ORPHA:261330
Auriculocondylar Syndrome 4
Glossoptosis, Narrow mouth, Question mark ear, Hearing impairment, Micrognathia, Cleft palate OMIM:620457
Distal Deletion 17Q
Optic atrophy, Hepatomegaly, Low-set, posteriorly rotated ears, Abnormal form of the vertebral bo... ORPHA:1597
Cleft Palate, Isolated
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate OMIM:119540
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Retrognathia, Decreased response to growth hormone stimulation test, Long ph... OMIM:300845
Chondrodysplasia, Blomstrand Type
Stillbirth, Abnormal vertebral morphology, Hydrops fetalis, Polyhydramnios, Short ribs, Preductal... OMIM:215045
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Delayed puberty, Low-set, posteriorly rotated ears, Microtia, Ectopic anus, Abnormality of the de... ORPHA:2994
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Micrognathia, Cleft palate ORPHA:2016
Gm1 Gangliosidosis
Abnormal form of the vertebral bodies, Hyperlordosis, Cardiomyopathy, Kyphosis, Abnormal heart mo... ORPHA:354
Isolated Cleft Lip
Chronic otitis media, Situs inversus totalis, Supernumerary maxillary incisor, Polyhydramnios, Ab... ORPHA:199302
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Abnormal optic disc morphology, Microcephaly, Long philtrum, Bicuspid aor... ORPHA:508498
Holoprosencephaly
Congenital diaphragmatic hernia, Solitary median maxillary central incisor, Abnormal form of the ... ORPHA:2162
Hemifacial Atrophy, Progressive
Short mandibular rami, Delayed eruption of teeth, Microtia, Kyphosis, Dental malocclusion, Horner... OMIM:141300
Dyssegmental Dysplasia, Silverman-Handmaker Type
Single umbilical artery, Hydrops fetalis, Encephalocele, Pterygium, Hydrocephalus, Miscarriage, S... ORPHA:1865
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, Optic nerve hypoplasia, Sensorineural hearing impairment, Abnormal... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, Optic nerve hypoplasia, Sensorineural hearing impairment, Abnormal... ORPHA:352665
Lethal Congenital Contracture Syndrome 10
Narrow palate, Long philtrum, Stiff neck, Hydrops fetalis, Cardiomegaly, Torticollis, Fetal akine... OMIM:617022
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cerebral atrophy, Thin vermilion border, Patent ductus arteriosus, Abnormal septum pellucidum mor... ORPHA:171839
Nuchal Bleb, Familial
Cystic hygroma, Stillbirth, Fetal cystic hygroma OMIM:257350
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Progressive microcephaly, Microtia, Glossoptosis, Microcephaly, Left ventricular ... OMIM:611209
Bor Syndrome
Retrognathia, Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, A... ORPHA:107
Charge Syndrome
Delayed puberty, Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Tracheoeso... OMIM:214800
Conductive Deafness-Malformed External Ear Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm... ORPHA:3216
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Webbed neck, Sensorineural hearing impairment, Branchial anoma... ORPHA:1131
7Q31 Microdeletion Syndrome
Long philtrum, Macrocephaly, Childhood onset sensorineural hearing impairment, Gastroesophageal r... ORPHA:251061
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Asymmetry of the ears, Optic nerve hypoplasia, Abnormal heart morpho... ORPHA:508488
Congenital Disorder Of Glycosylation, Type Ik
Cerebral atrophy, Thin vermilion border, Hepatomegaly, Cardiomyopathy, Abnormality of the amnioti... OMIM:608540
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormality of blood circulation, Abnormal aortic arch morphology, Abnormal... ORPHA:860
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Anteverted ears, Micro... OMIM:610706
Classic Multiminicore Myopathy
Congestive heart failure, Spinal rigidity, Muscular dystrophy, Limited neck flexion, Weakness of ... ORPHA:324604
Viss Syndrome
Retrognathia, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Recurrent jo... OMIM:619472
Atelis Syndrome 1
Lumbar kyphosis, Anemia, Microtia, High palate, Hypothyroidism, Carious teeth, Leukopenia, Thromb... OMIM:620184
Alg3-Cdg
Hypoplasia of the corpus callosum, Abnormality of the gastrointestinal tract, Neural tube defect,... ORPHA:79321
Digeorge Syndrome
Right aortic arch with mirror image branching, Microcephaly, Bifid uvula, Ovarian cyst, Recurrent... OMIM:188400
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Retrognathia, Sensorineural hearing impairment, Nonimmune hydrops fetalis, Umbilical hernia, Narr... OMIM:235510
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Macrocephaly at birth, Flexion contracture of toe, Microtia, Wide mouth, Dysphagia, Prominent tra... ORPHA:280633
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Ankle flexion contracture, Gastroesophageal reflux, Sensorineural hearing impairment, Mandibular ... ORPHA:435938
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Decreased thyroid-stimulating hormone level, Bradycardia, Pituitary hypothyroidism,... ORPHA:90674
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Duodenal atresia, Aplasia of the thymus ORPHA:3004
19P13.3 Microduplication Syndrome
Kyphoscoliosis, Cerebral atrophy, Hip subluxation, Gastroesophageal reflux, Short philtrum, Micro... ORPHA:447980
Pallister-Hall Syndrome
Microtia, Decreased circulating cortisol level, Intrauterine growth retardation, Hip dislocation,... OMIM:146510
Trisomy 1Q
Congenital diaphragmatic hernia, Macrocephaly, Hydrops fetalis, Patent ductus arteriosus, Polyhyd... ORPHA:261344
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s... ORPHA:90673
Distal Triplication 15Q
Retrognathia, Sensorineural hearing impairment, Microtia, Kyphosis, Abnormal heart morphology, In... ORPHA:314588
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Dental crowding, Microtia, Intestinal malrotation, Paranasal sinus hy... OMIM:300373
Sialidosis Type 2
Hepatomegaly, Hydrops fetalis, Ascites, Kyphosis, Hearing impairment, Skeletal muscle atrophy, Sp... ORPHA:87876
Fryns Syndrome
Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Intestinal malrotation, Wide mo... ORPHA:2059
Fibrochondrogenesis 1
Abnormal pinna morphology, Short ribs, Long philtrum, Hydrops fetalis, Patent foramen ovale, Post... OMIM:228520
3-Hydroxyisobutyric Aciduria
Long philtrum, Cerebral calcification, Microtia, Aplasia/Hypoplasia of the cerebellum, Microcepha... ORPHA:939
Velocardiofacial Syndrome
Retrognathia, Right aortic arch with mirror image branching, Hypoparathyroidism, Interrupted aort... OMIM:192430
Mandibulofacial Dysostosis-Microcephaly Syndrome
Secondary microcephaly, Atrial septal defect, Abnormal middle ear morphology, Abnormal antihelix ... ORPHA:79113
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cryptorchidism, Cleft palate, Tooth agenesis ORPHA:1074
Catel-Manzke Syndrome
Chronic otitis media, Low-set, posteriorly rotated ears, Glossoptosis, Oral synechia, Micrognathi... ORPHA:1388
Monosomy 18Q
Kyphoscoliosis, Pulmonary valve defects, Sensorineural hearing impairment, Left-to-right shunt, A... ORPHA:1600
Auriculocondylar Syndrome 1
Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypoplasia, Low-set ears, Hy... OMIM:602483
Femoral-Facial Syndrome
Orofacial cleft, Maternal diabetes, Abnormal sacrum morphology, Microtia, Scoliosis, Low-set ears... ORPHA:1988
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasia, Umbilical her... ORPHA:226316
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Anorectal anomaly, Abnormal form of the vertebral bodies, Microt... ORPHA:1834
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Hydrocephalus, Microtia, Punctate vertebral calcifications, Myelomeningocele, Hear... ORPHA:1914
Multiple Pterygium Syndrome, Escobar Variant
Congenital diaphragmatic hernia, Dislocated radial head, Kyphosis, Umbilical hernia, Long philtru... OMIM:265000
Osteopathia Striata-Cranial Sclerosis Syndrome
Retrognathia, High, narrow palate, Macrocephaly, Spina bifida occulta, Delayed eruption of teeth,... ORPHA:2780
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Scoliosis, Hearing impairment, Micr... ORPHA:1727
Catifa Syndrome
Tooth malposition, Delayed eruption of teeth, Increased overbite, Microtia, Camptodactyly, Cleft ... OMIM:618761
Charge Syndrome
Delayed puberty, Abnormal pinna morphology, Microtia, Tracheoesophageal fistula, Microcephaly, Dy... ORPHA:138
Au-Kline Syndrome
Retrognathia, Breech presentation, Sensorineural hearing impairment, Microtia, Hypertension, Lipo... OMIM:616580
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Chronic otitis media, Narrow palate, High, narrow palate, Type 1 muscle fiber predominance, Secon... OMIM:612949
Isotretinoin Syndrome
Sacral dimple, Spina bifida occulta, Microtia, Biparietal narrowing, Micrognathia, Cleft palate, ... ORPHA:2305
Sweeney-Cox Syndrome
Broad neck, Microtia, Short philtrum, Patent foramen ovale, Asplenia, Hearing impairment, Patent ... OMIM:617746
Tarp Syndrome
Meckel diverticulum, Microtia, Glossoptosis, Intrauterine growth retardation, Tongue nodules, Oli... OMIM:311900
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Recurrent otitis media, Cyanosis, High palate, Persistent left superior vena cava, Pulmonic steno... ORPHA:3304
Cleft Lip/Palate
Orofacial cleft, Recurrent otitis media, Abnormal number of permanent teeth, Palate fistula, Bila... ORPHA:199306
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymp... ORPHA:83471
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Gingival fibromatosis, Gingival overgrowth, Low-set ears, Mandibular aplasia, Media... ORPHA:1832
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Abnormal vertebral morphology, Abnormality of the vertebral column, Microtia, Narr... OMIM:239800
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Macrocephaly, Polyhydramnios, Microtia, Congenital pyloric atresia, Fragile skin, Neonatal death,... OMIM:612138
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Jaundice, Patent foramen ovale, Low-set ears, Dehydration, Nephrogenic diabetes insipidus, Hearin... OMIM:208085
Femoral-Facial Syndrome
Limited elbow movement, Pulmonic stenosis, Premature birth, Absent vertebra, Long philtrum, Encep... OMIM:134780
Meier-Gorlin Syndrome 8
Microtia, Low-set ears, Narrow mouth, Bilateral cryptorchidism, Micrognathia, Thick vermilion bor... OMIM:617564
Acrocardiofacial Syndrome
Joint dislocation, Truncus arteriosus, Low-set ears, Ventricular septal defect, Anal atresia, Dea... ORPHA:2008
Smith-Magenis Syndrome
Orofacial cleft, Everted upper lip vermilion, Abnormal middle ear morphology, Abnormal nerve cond... OMIM:182290
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Polyhydramnios, Patent ductus arteriosus, Microtia, Mandibular prognathia,... OMIM:620475
Distal 22Q11.2 Microduplication Syndrome
Palpebral edema, Low posterior hairline, Microcephaly, Long philtrum, Sacral dimple, Short philtr... ORPHA:261337
Achondrogenesis Type 1B
Macrocephaly, Hydrops fetalis, Polyhydramnios, Abnormal rib morphology, Thickened nuchal skin fol... ORPHA:93298
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Thin corpus callosum, Retinal arterial tortuosity, Cerebral calcification, Everted lower lip verm... OMIM:620371
Opitz-Kaveggia Syndrome
Sensorineural hearing impairment, Dental crowding, Relative macrocephaly, Intestinal malrotation,... OMIM:305450
Wilson-Turner Syndrome
Microtia, Micrognathia, Hypogonadotropic hypogonadism, Cryptorchidism, Malar prominence, Thin upp... ORPHA:3459
Phaver Syndrome
Butterfly vertebrae, Hypoplastic aortic arch, Abnormal form of the vertebral bodies, Aplasia/Hypo... ORPHA:2876
Achondrogenesis, Type Ib
Stillbirth, Absent or minimally ossified vertebral bodies, Polyhydramnios, Breech presentation, H... OMIM:600972
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Multilobulated spleen, Right aortic arch with mirror image branc... OMIM:601186
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Low-set ears, Everted lower lip vermilion, Cleft lip, Cleft palate, Posteriorly r... OMIM:616898
Congenital Disorder Of Glycosylation, Type Il
Cerebral atrophy, Global brain atrophy, Hepatomegaly, Hydrops fetalis, Low-set ears, Ascites, Kyp... OMIM:608776
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ... OMIM:242700
De Barsy Syndrome
Kyphoscoliosis, Progressive microcephaly, Umbilical hernia, Intrauterine growth retardation, Smal... ORPHA:2962
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Bradycardia, Microtia, Bilateral sensorineural hearing impairment,... ORPHA:40366
Parc Syndrome
Cleft palate, Microretrognathia OMIM:600331
Glycine Encephalopathy 1
Irritability, Hyperactivity, Impulsivity, Death in infancy, Restlessness, Aggressive behavior OMIM:605899
Greenberg Dysplasia
Retrognathia, Short ribs, Bone marrow hypocellularity, Hypoplastic vertebral bodies, Nonimmune hy... OMIM:215140
Achondrogenesis Type 1A
Macrocephaly, Hydrops fetalis, Polyhydramnios, Thickened nuchal skin fold, Micrognathia, Cystic h... ORPHA:93299
Adams-Oliver Syndrome 6
Esophageal varix, Truncus arteriosus, Ventricular septal defect, Splenomegaly OMIM:616589
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Aplasia/Hypoplasia of the external ear, Retrognathia, Sacral dimple, Long philtrum, Aplasia/Hypop... ORPHA:505237
Toriello-Carey Syndrome
Abnormal pinna morphology, Cardiomyopathy, Pulmonic stenosis, Microcephaly, Intrauterine growth r... ORPHA:3338
Achondrogenesis
Macrocephaly, Hydrops fetalis, Polyhydramnios, Thickened nuchal skin fold, Micrognathia, Cystic h... ORPHA:932
Warsaw Breakage Syndrome
High palate, Hearing impairment, Microcephaly, Cutis marmorata, Tetralogy of Fallot, Wide mouth, ... OMIM:613398
Mucopolysaccharidosis, Type Vii
Sensorineural hearing impairment, Cardiomyopathy, Kyphosis, Splenomegaly, Anterior beaking of low... OMIM:253220
Zechi-Ceide Syndrome
Thin vermilion border, Atrial septal defect, Abnormal earlobe morphology, Short philtrum, Cerebel... ORPHA:217017
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Multiple joint dislocation, Dislocated radial head, Microtia, Kn... OMIM:245600
Saethre-Chotzen Syndrome
Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Abnormal pinna morpholog... ORPHA:794
Kallmann Syndrome-Heart Disease Syndrome
Delayed puberty, Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Sensori... ORPHA:2326
Mucolipidosis Type Iii Alpha/Beta
Kyphoscoliosis, Congestive heart failure, Recurrent otitis media, Aortic regurgitation, Sensorine... ORPHA:423461
Distal Xq28 Microduplication Syndrome
Absent antihelix, Thick lower lip vermilion, Predominantly lower limb lymphedema, Dental crowding... ORPHA:293939
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow palate, Retrognathia, Macrocephaly, Gastroesophageal reflux, Short philtrum, Hypodontia, M... OMIM:620250
Lateral Meningocele Syndrome
Dental crowding, Kyphosis, Biconcave vertebral bodies, Umbilical hernia, Long philtrum, Bicuspid ... OMIM:130720
Even-Plus Syndrome
Dysplastic corpus callosum, Microtia, Patent foramen ovale, High palate, Anal atresia, Vertebral ... OMIM:616854
Alg9-Cdg
Enlarged kidney, Hypoplasia of the ovary, Progressive microcephaly, Low posterior hairline, Bifid... ORPHA:79328
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Abnormal lower lip morphology, Vertebral segmentation defect, Ab... ORPHA:1166
Craniosynostosis, Herrmann-Opitz Type
Webbed neck, Abnormal antihelix morphology, Microtia, Abnormal rib morphology, Micrognathia, Clef... ORPHA:2145
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Non-midline cleft of the upper lip, Mic... ORPHA:3429
Van Maldergem Syndrome 1
Sensorineural hearing impairment, Microtia, Subcortical band heterotopia, Sacral dimple, Scoliosi... OMIM:601390
Cowden Syndrome 5
Progressive macrocephaly, Thyroiditis, Scoliosis, High palate, Furrowed tongue, Kyphosis, Hamarto... OMIM:615108
Van Esch-O'Driscoll Syndrome
Cerebral atrophy, Retrognathia, Pulmonary valve atresia, Sacral dimple, Esophageal atresia, Spina... OMIM:301030
Van Maldergem Syndrome 2
Sensorineural hearing impairment, Microtia, Subcortical band heterotopia, Single umbilical artery... OMIM:615546
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Left ventricular systolic dysfunction, Abnormal macrophage morphology, Calf muscle pseudohypertro... ORPHA:353
Infantile Sialic Acid Storage Disease
Cerebral atrophy, Congestive heart failure, Hepatomegaly, Hydrops fetalis, Death in childhood, Hy... OMIM:269920
Johnson Neuroectodermal Syndrome
Microtia, Facial palsy, Everted lower lip vermilion, Atresia of the external auditory canal, Cond... ORPHA:2316
Mycophenolate Mofetil Embryopathy
Tessier cleft, Orofacial cleft, Congenital diaphragmatic hernia, Hydrops fetalis, Hydrocephalus, ... ORPHA:268249
Fetal Akinesia Deformation Sequence 2
Broad neck, Low-set ears, High palate, Micrognathia, Cleft palate, Tented upper lip vermilion, Cr... OMIM:618388
Fetal Gaucher Disease
Decreased fetal movement, Stillbirth, Hepatomegaly, Hydrops fetalis, Low-set, posteriorly rotated... ORPHA:85212
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Retrognathia, Redundant neck skin, Abnormal aortic arch morphology, Microtia, Sho... ORPHA:96334
Weaver-Williams Syndrome
Protruding ear, Cleft palate, Narrow mouth ORPHA:3448
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Broad neck, Optic nerve hypoplasia, Relative macrocephaly, Low posterior hairline, Pulmonic steno... OMIM:617506
Nabais Sa-De Vries Syndrome, Type 2
Thin vermilion border, Polyhydramnios, Gastroesophageal reflux, Bilateral cleft palate, Microtia,... OMIM:618829
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Sensorineural hearin... ORPHA:95716
Cowden Syndrome 6
Progressive macrocephaly, Thyroiditis, Scoliosis, High palate, Furrowed tongue, Kyphosis, Hamarto... OMIM:615109
Myhre Syndrome
Microtia, Hypertension, Aortic valve stenosis, Generalized muscle hypertrophy, Microcephaly, Intr... OMIM:139210
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Macrocephaly, Microtia, Narrow mouth, Hypoplasia of the maxilla, ... ORPHA:261295
Heart And Brain Malformation Syndrome
Everted lower lip vermilion, Microcephaly, Cerebellar vermis hypoplasia, Dandy-Walker malformatio... OMIM:616920
Cutis Laxa, Autosomal Recessive, Type Ic
Retrognathia, Breech presentation, Morgagni diaphragmatic hernia, Ascites, Death in infancy, Umbi... OMIM:613177
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear ossicle... OMIM:609166
Congenital Syphilis
Prolonged neonatal jaundice, Premature birth, Intrauterine growth retardation, Optic atrophy, Myo... ORPHA:499009
Tetrasomy 15Q26
Kyphoscoliosis, Hypoplastic aortic arch, Hydrocephalus, Dandy-Walker malformation, High palate, L... OMIM:614846
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, HbH hemoglobin, Sensorineural hearing impairment, Microtia, Kyphosis, Microcephal... OMIM:301040
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Enlarged kidney, Meckel diverticulum, Short ribs, Cardiomyopathy... OMIM:312870
Pelvis-Shoulder Dysplasia
Prominent protruding coccyx, Abnormal form of the vertebral bodies, Dislocated radial head, Hydra... ORPHA:2839
Synaptic Congenital Myasthenic Syndromes
Triangular mouth, Scoliosis, Mandibular prognathia, High palate, Facial palsy, Pulmonary arterial... ORPHA:98915
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Hydrops fetalis, Type 1 and type 2 muscle fiber minicore regions, Polyhydramn... OMIM:255320
Lambert Syndrome
Jaundice, Branchial anomaly, Wide mouth, Malar flattening, Intrauterine growth retardation, Ventr... ORPHA:1296
Noonan Syndrome 2
Abnormal coronary artery origin, Redundant neck skin, Relative macrocephaly, Cardiomyopathy, Low ... OMIM:605275
Mesomelic Limb Shortening And Bowing
Retrognathia, Micrognathia, Cleft palate OMIM:249710
Isotretinoin Embryopathy-Like Syndrome
Microtia, Micrognathia, Cleft palate, Anotia, Conotruncal defect OMIM:243440
Hennekam-Beemer Syndrome
Optic atrophy, Thick lower lip vermilion, Microtia, Scoliosis, Delayed cranial suture closure, Hi... ORPHA:2135
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Orofacial cleft, Polyhydramnios, Hydrocephalus, Microtia, Narrow mouth, Abnormally... ORPHA:3301
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Incisor macrodontia, Low-set ears, Narrow mouth, Coarctation of aorta, Cle... OMIM:615502
Acrocephalopolydactyly
Genu recurvatum, Microtia, Hepatosplenomegaly, Cystic hygroma, Short neck ORPHA:221054
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in childhood, Vascular dilatation, Cardiomegaly, Microtia, Hypertension, Flat acetabular ro... OMIM:613320
Chromosome 1P36 Deletion Syndrome, Distal
Sensorineural hearing impairment, Microtia, Microcephaly, Bifid uvula, Dysphagia, Abnormality of ... OMIM:607872
Arthrogryposis, Distal, Type 1C
Thin vermilion border, Retrognathia, High palate, Narrow mouth, Increased nuchal translucency, Li... OMIM:619110
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Adren... OMIM:102700
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Natal tooth, Abnormal mandible morphology, Torticollis OMIM:217150
Alg8-Cdg
Optic atrophy, Hypoplasia of the corpus callosum, Abnormality of the gastrointestinal tract, Anem... ORPHA:79325
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Sensorineural hearing impairment, Microtia, Microcephaly, Bifid ... OMIM:301022
Rubinstein-Taybi Syndrome 1
Retrognathia, Dislocated radial head, Dental crowding, Low posterior hairline, Premature thelarch... OMIM:180849
Scimitar Syndrome
Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati... ORPHA:185
Mulibrey Nanism
Congestive heart failure, Hepatomegaly, Hydrops fetalis, Cardiomegaly, Absent frontal sinuses, De... OMIM:253250
Cowden Syndrome 1
Hemimegalencephaly, Kyphosis, Ovarian cyst, Lymphopenia, Subcutaneous lipoma, Thyroiditis, Scolio... OMIM:158350
Kagami-Ogata Syndrome
Kyphoscoliosis, Retrognathia, Hepatomegaly, Polyhydramnios, Microtia, Thin ribs, Diastasis recti,... OMIM:608149
Oculoauriculovertebral Spectrum With Radial Defects
Short mandibular rami, Orofacial cleft, Atrioventricular canal defect, Maternal diabetes, Abnorma... ORPHA:2549
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Abnormal aortic arch morphology, Low-set, posteriorly rotated ears, M... ORPHA:1110
Fetal Akinesia Deformation Sequence 1
Wrist flexion contracture, Premature birth, Nonimmune hydrops fetalis, Decreased fetal movement, ... OMIM:208150
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retrognathia, Retractile testis, Microtia, Hypergonadot... ORPHA:163976
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Right aortic arch, Hypothyroidism, Hearing impairment, Goiter OMIM:617577
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Sensorineural hearing impairment, Microdontia, Microcephaly, Bifid uvula, Long philtrum, Bicuspid... OMIM:612474
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Hypoplastic sacrum, Dislocated radial head, Dental crowding, Microtia, Tooth agenes... OMIM:268310
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Cyanosis, Webbed neck, Interrupted aortic arch, Right aortic arch, Truncus art... OMIM:617478
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Dental crowding, Hyperlo... ORPHA:2789
Truncus Arteriosus
Adrenocortical abnormality, Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposi... ORPHA:3384
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Microtia, Glossoptosis, Wrist flexion contracture, Cerebral white matter hyp... ORPHA:436003
Hartnup Disorder
Attention deficit hyperactivity disorder, Emotional lability, Hyperactivity OMIM:234500
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Stenosis of the external auditory canal, Microtia, Dental crowding, Low-se... OMIM:616367
Intellectual Developmental Disorder, Autosomal Dominant 43
Hypoplasia of the corpus callosum, Thin corpus callosum, Gastroesophageal reflux, Short philtrum,... OMIM:616977
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Breech presentation, Microdontia, Death in infancy, Microcephaly, Hydrops fetalis, Triangular mou... OMIM:300868
Robinow Syndrome, Autosomal Dominant 2
Kyphoscoliosis, Mixed hearing impairment, Sensorineural hearing impairment, Dental crowding, Wide... OMIM:616331
Perching Syndrome
Scoliosis, High palate, Camptodactyly, Joint contracture, Dysphagia, Cyanosis OMIM:617055
Turnpenny-Fry Syndrome
Hypoplasia of the primary teeth, Dental crowding, Microtia, Thoracic kyphoscoliosis, Relative mac... OMIM:618371
Branchiootic Syndrome
Abnormal middle ear morphology, Abnormality of the inner ear, Sensorineural hearing impairment, F... ORPHA:52429
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Short ribs, Microcephaly, Aplasia of the epiglottis, Cerebellar vermis h... OMIM:615948
Intellectual Developmental Disorder, Autosomal Dominant 73
Retrognathia, Microtia, Hyperlordosis, Everted lower lip vermilion, Kyphosis, Microcephaly, Broad... OMIM:620450
Craniofacial Microsomia 1
Occipital encephalocele, Sensorineural hearing impairment, Microtia, Underdeveloped tragus, Wide ... OMIM:164210
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Decreased response to growth hormone stimulation test, Broad neck, Congenital adrenal hypoplasia,... OMIM:618336
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Widely spaced teeth, Short philtrum, Microtia, Scoliosis, Low-se... OMIM:612530
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Dislocated radial head, Microtia, Severe intrauterine growth retardation, Wormian bones, Patellar... OMIM:620663
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft of the upper lip, Decreased testicular size, Hearing impairment, Cleft palate, ... ORPHA:85273
Gm1 Gangliosidosis Type 1
Abnormal placenta morphology, Long philtrum, Beaking of vertebral bodies T12-L3, Platyspondyly, S... ORPHA:79255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retrognathia, Optic nerve hypoplasia, Microtia, Type II lissencephaly, Death in infancy, Subcorti... OMIM:614643
Intellectual Developmental Disorder, Autosomal Dominant 1
Retrognathia, Microtia, Everted lower lip vermilion, Microdontia, Low posterior hairline, Microce... OMIM:156200
Wolf-Hirschhorn Syndrome
Chronic otitis media, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Mic... ORPHA:280
Tetrasomy 5P
Congestive heart failure, Redundant neck skin, Macrocephaly, Cerebellar hypoplasia, Pericallosal ... ORPHA:3309
Schneckenbecken Dysplasia
Stillbirth, Macrocephaly, Polyhydramnios, Short ribs, Flat acetabular roof, Narrow vertebral inte... OMIM:269250
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Micrognathia, Cleft palate, Malar flattening, Atrial septal defect, Cupped ear ORPHA:93946
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Microtia, High palate, Low-set ears, Microcephaly, Cleft up... OMIM:609654
Congenital Heart Block
Bradycardia, Premature birth, Intrauterine growth retardation, Oligohydramnios, Vaginal birth aft... ORPHA:60041
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Orofacial cleft, Non-midline cleft of the upper lip, Microtia, Atresia of ... OMIM:141400
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Breech presentation, Microtia, Hypertension, Death in infancy, Microcephaly, Prolonged neonatal j... OMIM:210710
Fliedner-Zweier Syndrome
Hypoplasia of the corpus callosum, Bicuspid aortic valve, Hypoplastic aortic arch, Meningocele, S... OMIM:620511
Cranioectodermal Dysplasia 2
Retrognathia, Hypertension, Short ribs, Everted lower lip vermilion, Microdontia, Splenomegaly, B... OMIM:613610
Transaldolase Deficiency
Hydrops fetalis, Anemia, Premature skin wrinkling, Coarctation of aorta, Hepatosplenomegaly, Thro... ORPHA:101028
Congenital Myopathy 22B, Severe Fetal
Retrognathia, Spinal rigidity, Breech presentation, Dental crowding, Ascites, Nonimmune hydrops f... OMIM:620369
Loeys-Dietz Syndrome 5
Kyphoscoliosis, Retrognathia, Flexion contracture of toe, Spondylolisthesis, Congenital finger fl... OMIM:615582
Difference Of Sex Development-Intellectual Disability Syndrome
Thin vermilion border, Genu valgum, Low-set, posteriorly rotated ears, Spina bifida occulta, Shor... ORPHA:2983
Holoprosencephaly 13, X-Linked
Solitary median maxillary central incisor, Optic nerve hypoplasia, Microtia, Septo-optic dysplasi... OMIM:301043
Tarp Syndrome
Small earlobe, Glossoptosis, Abnormal duodenum morphology, Intrauterine growth retardation, Tongu... ORPHA:2886
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Limited neck flexion, Anterior open-bite malocclusion, Abnormal autonomic nervous system physiolo... ORPHA:83601
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Right aortic arch, Congenitally corrected ... OMIM:618300
Auriculocondylar Syndrome
Aplasia/Hypoplasia of the external ear, Abnormality of the temporomandibular joint, Low-set, post... ORPHA:137888
Distal Deletion 12Q
Kyphoscoliosis, Microtia, Microcephaly, Pituitary adenoma, Long philtrum, Patent foramen ovale, E... ORPHA:96149
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Bradycardia, Hypertrophic cardiomyopathy, Death in infancy, Flexion contracture,... OMIM:618815
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Delayed puberty, Kyphoscoliosis, Dental crowding, Relative macrocephaly, Kyphosis, Wide mouth, Ca... OMIM:300967
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Sacral dimple, Megalencephaly, Short philtrum, Macrocephaly, Hydrocephalus... OMIM:613603
Gaucher Disease, Perinatal Lethal
Retrognathia, Everted upper lip vermilion, Microtia, Everted lower lip vermilion, Ascites, Microc... OMIM:608013
Split-Hand/Foot Malformation 3
Abnormal pinna morphology, High palate, Narrow mouth, Hypoplasia of the maxilla, Cleft palate, Mi... OMIM:246560
Diprosopus
Anencephaly, Non-midline cleft of the upper lip, Abnormal pinna morphology, Cleft palate, Abnorma... ORPHA:1681
Braddock-Carey Syndrome 2
Retrognathia, Hearing impairment, Atresia of the external auditory canal, Pierre-Robin sequence, ... OMIM:619981
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Microtia, Type II lissencephaly, Microcephaly, O... OMIM:236670
Cerebrofacioarticular Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Caudal appendage, Anal stenosis, C... ORPHA:314679
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Polyhydramnios, Microtia, Camptodactyly of finger, Micrognathia, Duodenal stenosis, Patent ductus... ORPHA:2547
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Klippel-Feil Syndrome 2, Autosomal Recessive
Sensorineural hearing impairment, Abnormal pinna morphology, Low posterior hairline, Conductive h... OMIM:214300
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Microcephaly, Right aortic arch with mirror image branching OMIM:107500
Lymphatic Malformation 6
Abnormal pinna morphology, Ascites, Nonimmune hydrops fetalis, Splenomegaly, Edema, Scoliosis, He... OMIM:616843
Down Syndrome
Redundant neck skin, Microtia, Abnormal fetal nasal bone visualization, Aganglionic megacolon, Pa... OMIM:190685
6Q16 Microdeletion Syndrome
Retrognathia, Macrocephaly, Microtia, Low-set ears, Abnormal ear morphology, Micrognathia ORPHA:171829
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Congestive heart failure, Angiokeratoma corporis diffusum, Hepatomeg... OMIM:230500
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Jaundice, Low-set ears, Arthrogryposis multiplex congenita, Nephrogenic diabetes in... OMIM:613404
Diamond-Blackfan Anemia 6
Retrognathia, Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Pers... OMIM:612561
Treacher Collins Syndrome 3
Microtia, Conductive hearing impairment, Micrognathia, Cleft palate, Malar flattening, Hypoplasia... OMIM:248390
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Non-midline cleft of the upper lip, Microtia, Abnormality of t... ORPHA:246
Intellectual Developmental Disorder, X-Linked 112
Kyphoscoliosis, Madelung deformity, Gastroesophageal reflux, Scoliosis, Right aortic arch, Kyphos... OMIM:301111
Abruzzo-Erickson Syndrome
Hearing impairment, Macrotia, Protruding ear, Cleft palate OMIM:302905
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Sensorineural hearing impairment, Glossoptosis, Micrognathia, Cleft palate, Malar flattening, Lon... ORPHA:166100
Mgat2-Cdg
Hydrops fetalis, Impaired lymphocyte transformation with phytohemagglutinin, Abnormal earlobe mor... ORPHA:79329
Peters Plus Syndrome
Pulmonic stenosis, Microcephaly, Wide mouth, Umbilical hernia, Intrauterine growth retardation, L... ORPHA:709
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Macrocephaly, Microtia, Low-set ears, Everted lower lip vermilion, Narrow mouth, Microcephaly, Do... OMIM:618089
17Q24.2 Microdeletion Syndrome
Recurrent otitis media, Cubitus valgus, Abnormality of the wrist, Prolonged QT interval, Short ph... ORPHA:529962
Meier-Gorlin Syndrome 1
Breech presentation, Microtia, Short ribs, Microdontia, Death in infancy, Microcephaly, Intrauter... OMIM:224690
Congenital Myasthenic Syndrome
Kyphoscoliosis, Spinal rigidity, Sensorineural hearing impairment, Limb-girdle muscle weakness, D... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Kyphoscoliosis, Spinal rigidity, Sensorineural hearing impairment, Limb-girdle muscle weakness, D... ORPHA:98914
Pendred Syndrome
Thyroid carcinoma, Abnormality of the inner ear, Tracheal stenosis, Sensorineural hearing impairm... ORPHA:705
Neuraminidase Deficiency
Hepatomegaly, Hydrops fetalis, Sensorineural hearing impairment, Bone-marrow foam cells, Vacuolat... OMIM:256550
Vacterl With Hydrocephalus
Retrognathia, Aqueductal stenosis, Single umbilical artery, Polyhydramnios, Esophageal atresia, A... ORPHA:3412
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Posteriorly placed anus, Myelomeningocele, Pulmonic stenosis, Absence of the sac... OMIM:306955
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Hydrops fetalis, Polyhydramnios, Low-set ears, Cleft palate, Malar fl... ORPHA:85166
Coxoauricular Syndrome
Hearing impairment, Microtia, Hip dislocation OMIM:122780
Microcephaly 6, Primary, Autosomal Recessive
Microcephaly, Microtia, Small cerebral cortex OMIM:608393
Hennekam Syndrome
Retrognathia, Arteriovenous malformation, Abnormal pinna morphology, Ascites, Tooth agenesis, Lym... ORPHA:2136
Distal Deletion 15Q
Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Microcephaly, Double outlet rig... ORPHA:1596
Yunis-Varon Syndrome
Redundant neck skin, Broad secondary alveolar ridge, Abnormal pinna morphology, Hypertension, Glo... ORPHA:3472
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal tricuspid valve mor... ORPHA:90308
Treacher Collins Syndrome 1
Cleft soft palate, Microtia, Narrow mouth, Atresia of the external auditory canal, Conductive hea... OMIM:154500
Developmental Delay, Dysmorphic Facies, And Brain Anomalies
Hypoplasia of the corpus callosum, Retrognathia, Microtia, Mandibular prognathia, Low-set ears, M... OMIM:620535
Branchiooculofacial Syndrome
Premature graying of hair, Sensorineural hearing impairment, Microtia, Hyperlordosis, Kyphosis, L... OMIM:113620
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Ankle flexion contracture, Cyanotic episode, Lissencephaly, Ce... ORPHA:284417
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Kyphoscoliosis, Long philtrum, Breech presentation, Microtia, Mandibular prognathia, High palate,... OMIM:620494
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Thin vermilion border, Retrognathia, Low-set, posteriorly rotated ears, Cleft palate, Overfolded ... ORPHA:2631
Blomstrand Lethal Chondrodysplasia
Long philtrum, Hydrops fetalis, Polyhydramnios, Short ribs, Low-set ears, Synostosis of joints, P... ORPHA:50945
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Macrocephaly, Death in childhood, Cavum septum pellucidum, Optic nerve ... OMIM:620609
Acrocraniofacial Dysostosis
Advanced eruption of teeth, Genu valgum, Low-set, posteriorly rotated ears, Spina bifida occulta,... ORPHA:949
Combined Oxidative Phosphorylation Defect Type 27
Hypoplasia of the corpus callosum, Ragged-red muscle fibers, Hearing impairment, Diffuse cerebral... ORPHA:477774
Microphthalmia, Syndromic 2
Sensorineural hearing impairment, Pulmonic stenosis, Aortic valve stenosis, Microcephaly, Bifid u... OMIM:300166
Achondrogenesis, Type Ii
Stillbirth, Hydrops fetalis, Polyhydramnios, Short ribs, Cleft palate, Cystic hygroma, Microretro... OMIM:200610
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hypoplasia of the corpus callosum, Megalencephaly, Macrocephaly, Hydrocephalus, Polymicrogyria, K... OMIM:603387
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Glossoptosis, Low-set ears, Absent nipple, Ankyloglossia, Micrognath... OMIM:618021
Split-Foot Deformity With Mandibulofacial Dysostosis
Micrognathia, Cleft palate, Malar flattening OMIM:183700
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Periventricular white matter hyperintensities, Postnatal macrocephaly, Microtia, Gastroesophageal... OMIM:618158
Fontaine Progeroid Syndrome
Retrognathia, Everted lower lip vermilion, Microdontia, Low posterior hairline, Microcephaly, Dea... OMIM:612289
Congenital Disorder Of Deglycosylation 2
Sacral dimple, Thin corpus callosum, Macrocephaly, Genu recurvatum, Cerebellar vermis hypoplasia,... OMIM:619775
1P36 Deletion Syndrome
Sensorineural hearing impairment, Microtia, Abnormal intestine morphology, Kyphosis, Microcephaly... ORPHA:1606
Cousin Syndrome
Dislocated radial head, Wrist flexion contracture, Anterior rounding of vertebral bodies, Microti... OMIM:260660
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Wide anterior fontanel, Abnormal pinna morphology, Microtia, Low-set ears, Short ribs, Anal atres... OMIM:617925
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Bicuspid aortic valve, Microtia, Exaggerated cupid's bow, Low-... OMIM:618619
Mandibulofacial Dysostosis, Guion-Almeida Type
Esophageal atresia, Progressive microcephaly, Microtia, Low-set ears, Atresia of the external aud... OMIM:610536
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Cardiomyopathy, Kyphosis, Abnormality of the amniotic fluid, Microcephaly, Pericardi... OMIM:212065
Trisomy 8P
Retrognathia, Abnormal middle ear morphology, Low posterior hairline, Aplasia/Hypoplasia of the t... ORPHA:264450
Congenital Fibrinogen Deficiency
Cyanosis, Hemorrhagic ovarian cyst, Gingival bleeding, Internal hemorrhage, Decreased testicular ... ORPHA:335
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Abnormal palate morphology, Thick lower lip vermilion, Cubitus valgus, Broad neck, Narrow philtru... ORPHA:163654
Thyroid Hypoplasia
Hypothyroidism, Jaundice, Macroglossia, Thyroid hypoplasia ORPHA:95720
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Recurrent otitis media, Widely spaced teeth, Microtia, Microdontia, Hearing impairment, Hypoplasi... ORPHA:2728
20Q11.2 Microduplication Syndrome
Limited elbow extension, Retrognathia, Tented philtrum, Sacral dimple, Palpebral edema, Low-set, ... ORPHA:363659
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Bradycardia, Th... OMIM:218700
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Atrial septal defect, Carpal osteolysis, Abnormal form of the vertebral bo... ORPHA:371428
Craniofacioskeletal Syndrome
Short philtrum, Interrupted aortic arch, Tracheal stenosis, Microtia, Ventricular septal defect, ... OMIM:300712
Brachytelephalangic Chondrodysplasia Punctata
Mixed hearing impairment, Optic nerve hypoplasia, Tracheal stenosis, Butterfly vertebrae, Cervica... ORPHA:79345
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Retrognathia, Mandibular prognathia, Micrognathia, Bifid uvula, Cleft palate, Submucous cleft har... ORPHA:2521
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Short philtrum, Ectopic anus, Mandibular prognathia, Downturned corners of mouth, Cleft palate, M... ORPHA:94066
Amish Lethal Microcephaly
Optic atrophy, Hepatomegaly, Limb hypertonia, Cleft soft palate, Cerebellar vermis hypoplasia, Sp... ORPHA:99742
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Reduce... ORPHA:99832
Primary Pulmonary Hypoplasia
Abnormal hemidiaphragm morphology, Cyanosis, Patellar hypoplasia, Dextrocardia, Low-set ears, Mic... ORPHA:2257
Neu-Laxova Syndrome
Retrognathia, Cerebral calcification, Everted lower lip vermilion, Microcephaly, Bifid uvula, Hyp... ORPHA:2671
Landau-Kleffner Syndrome
Aggressive behavior, Memory impairment, Hyperactivity, Depression, Emotional lability, Short atte... ORPHA:98818
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Limited elbow movement, Limited knee flexion/extension, Spinal rigidity, Proximal muscle weakness... ORPHA:268
Phocomelia, Schinzel Type
Aplasia/Hypoplasia of the sacrum, High, narrow palate, Hydrops fetalis, Meningocele, Tracheoesoph... ORPHA:2879
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia, Mixed hearing impairment, Broad neck, Macrocytic anemia, Sensori... OMIM:606164
Trichorhinophalangeal Syndrome, Type Ii
Microcephaly, Bicuspid aortic valve, Cerebral arteriovenous malformation, Chronic gastritis, Scol... OMIM:150230
Lennox-Gastaut Syndrome
Hyperactivity, Irritability, Mental deterioration, Aggressive behavior ORPHA:2382
Fetal Parvovirus Syndrome
Hydrops fetalis, Anemia, Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency, Thr... ORPHA:295
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Hydrops fetalis, Polyhydramnios, Abnormall... ORPHA:1263
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Meier-Gorlin Syndrome 7
Dislocated radial head, Sensorineural hearing impairment, Microtia, Progressive microcephaly, Cra... OMIM:617063
Esophageal Atresia
Anorectal anomaly, Tracheoesophageal fistula, Intestinal malrotation, Dysphagia, Abnormality of t... ORPHA:1199
Intellectual Developmental Disorder, Autosomal Recessive 35
Microtia, Low-set ears, Everted lower lip vermilion, Micrognathia, Downturned corners of mouth, M... OMIM:615162
Congenital Gerbode Defect
Elevated right atrial pressure, Left-to-right shunt, Pulmonic stenosis, Constrictive pericarditis... ORPHA:99095
Branchiootic Syndrome 3
Sensorineural hearing impairment, Branchial cyst OMIM:608389
Trisomy 20P
Abnormal form of the vertebral bodies, Abnormal autonomic nervous system physiology, Kyphosis, Ev... ORPHA:261318
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Sensorineural hearing impairment, Intestinal malrotati... ORPHA:2712
Cerebrocostomandibular Syndrome
Anomalous rib insertion to vertebrae, Glossoptosis, Microcephaly, Long philtrum, 10 pairs of ribs... OMIM:117650
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Flexion contracture of toe, Wrist flexion contracture, Umbilical hernia, Quadrice... OMIM:255800
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Retrognathia, Microtia, Recurrent shoulder dislocation, Cardiomyopathy, Finger joint contracture,... OMIM:212112
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin vermilion border, Gastroesophageal reflux, Hemivertebrae, Low-set ears, Vertebral clefting, ... OMIM:614701
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Microtia, Low-set ears, Everted lower lip vermilion, Micrognathia, Malar flattening, Long philtru... ORPHA:357175
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Hypertrophic cardiomyopathy, Asplenia, Pulmonic steno... OMIM:615415
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Microtia, Microceph... OMIM:616462
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Non-midline cleft of the upper lip, Microtia, Abnormality of t... ORPHA:1770
Distal Deletion 10P
Low-set, posteriorly rotated ears, Webbed neck, Non-midline cleft of the upper lip, Ectopic anus,... ORPHA:1580
Microphthalmia, Syndromic 12
Retrognathia, Hypoplastic left atrium, Ventricular septal defect, Intestinal malrotation, Microgn... OMIM:615524
Hydrolethalus
Retrognathia, Gingival cleft, Polyhydramnios, Low-set, posteriorly rotated ears, Anencephaly, Hyd... ORPHA:2189
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Palpebral edema, Hepatomegaly, Cubitus valgus, Jaundice, Death in childhoo... OMIM:214110
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hydrops fetalis, Polyhydramnios, Hepatomegaly, Microcephaly, Abnormality of neuronal migration, S... ORPHA:2204
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Delayed puberty, Kyphoscoliosis, Dental crowding, Relative macrocephaly, Wide mouth, Left ventric... ORPHA:466791
Meier-Gorlin Syndrome 5
Long philtrum, Gastroesophageal reflux, Small earlobe, Microtia, Elbow dislocation, Low-set ears,... OMIM:613805
Fanconi Anemia, Complementation Group B
Hypoplasia of the corpus callosum, Aplastic anemia, Single umbilical artery, Abnormal vertebral m... OMIM:300514
Noonan Syndrome 7
Macrocephaly, Cubitus valgus, Webbed neck, Scoliosis, Low-set ears, Abnormal esophagus morphology... OMIM:613706
Parenti-Mignot Neurodevelopmental Syndrome
Short philtrum, Microtia, Low-set ears, Micrognathia, Posteriorly rotated ears, Craniosynostosis,... OMIM:619873
Combined Oxidative Phosphorylation Deficiency 57
Cerebral atrophy, Central diabetes insipidus, Secondary microcephaly, Diabetes insipidus, Sensori... OMIM:620167
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Microtia, Lymphedema, Narrow mouth, Ca... OMIM:616006
Dubowitz Syndrome
Microcephaly, Cutis marmorata, Wide mouth, Intrauterine growth retardation, Craniosynostosis, Sac... ORPHA:235
Chromosome 16P13.3 Duplication Syndrome
Microtia, Microdontia, Bifid uvula, Wide mouth, Long philtrum, Hip dislocation, Sacral dimple, Ca... OMIM:613458
Pediatric-Onset Graves Disease
Hypertension, Thyrotoxicosis with diffuse goiter, Sinus tachycardia, Microcephaly, Premature birt... ORPHA:525731
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Hypoplasia of the corpus callosum, Retrognathia, Thin vermilion border, Patellar hypoplasia, Abno... ORPHA:464288
Cardiofaciocutaneous Syndrome 1
Relative macrocephaly, Low posterior hairline, Pulmonic stenosis, Premature birth, Splenomegaly, ... OMIM:115150
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Normochromic anemia, Microtia, Macrocytic dyserythropoietic a... ORPHA:124
20Q13.33 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Thin vermilion border, Sacral dimple, Dilation of Virchow-Robi... ORPHA:261311
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Redundant neck skin, Cerebellar hypoplasia, Tracheal stenosis, Wide anterior fontanel, Abnormal p... OMIM:217980
Cog1-Cdg
Kyphoscoliosis, Broad neck, Progressive microcephaly, Microtia, Flat acetabular roof, Long philtr... ORPHA:263508
Peters-Plus Syndrome
Bilobate gallbladder, Limited elbow movement, Broad neck, Pulmonic stenosis, Microcephaly, Umbili... OMIM:261540
Leukocyte Adhesion Deficiency Type Ii
Palpebral edema, Severe periodontitis, Small earlobe, Microtia, Microcephaly, Lower limb hyperton... ORPHA:99843
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Retrognathia, Cerebral atrophy, Hepatomegaly, Abnormal cortical gyration, Hypoplas... OMIM:614576
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hydrops fetalis, Polyhydramnios, Hepatomegaly, Fetal pericardial effusion, Fetal pleural effusion... OMIM:619462
Orofaciodigital Syndrome Type 4
Retrognathia, Abnormal oral frenulum morphology, Microcephaly, Bifid uvula, Abnormality of the ea... ORPHA:2753
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Bamforth-Lazarus Syndrome
Retrognathia, Thyroid agenesis, Cleft palate, Congenital hypothyroidism ORPHA:1226
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Broad neck, Anemia, Macrocytic anemia, Morgagni diaphragmatic he... OMIM:613309
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Hydrops fetalis, Lymphedema, Vascular ring, Patent ductus arteriosus, Overriding ... OMIM:601927
Meier-Gorlin Syndrome 6
Delayed puberty, Decreased response to growth hormone stimulation test, Gastroesophageal reflux, ... OMIM:616835
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Microcolon, Intestinal malrotation, Pulmonic stenosis, Microceph... OMIM:600001
Cardiofaciocutaneous Syndrome
Low posterior hairline, Pulmonic stenosis, Premature birth, Long philtrum, Thickened helices, Opt... ORPHA:1340
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Limited elbow extension, Carpal bone hypoplasia, Scoliosis, Microtia, Low-set ears, Microcephaly,... OMIM:616723
Phenylketonuria
Irritability, Hyperactivity, Depression, Compulsive behaviors, Attention deficit hyperactivity di... OMIM:261600
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia, Abnormal basal ganglia MRI signal intensity, Scoliosis, Microtia... ORPHA:370079
8Q22.1 Microdeletion Syndrome
Abnormal antihelix morphology, Abnormal pinna morphology, Low-set ears, Abnormality of the dentit... ORPHA:178303
Ohdo Syndrome, X-Linked
Thin vermilion border, Widely spaced teeth, Stenosis of the external auditory canal, Microtia, Sc... OMIM:300895
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Narrow palate, Absent internal auditory canal, Profound sensorineural hearing impairment, Hyperin... OMIM:620469
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Sensorineural hearing impairment, Dental crowding, Intestinal malrotation, Pulmonic stenosis, Aor... ORPHA:353281
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Postsynaptic Congenital Myasthenic Syndromes
Hip flexor weakness, Cyanosis, Abnormality of masticatory muscle, Scoliosis, Thoracic kyphoscolio... ORPHA:98913
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Scoliosis, Hyperlordos... OMIM:253700
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Retrognathia, Muscular ventricular septal defect, Fused cervical vertebrae, ... OMIM:619227
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Microcephaly, Abnormal heart morphology, Intrauterine growth retardation, Neutropenia, Optic atro... ORPHA:79282
Apert Syndrome
Optic atrophy, Narrow palate, Ovarian neoplasm, Esophageal atresia, Delayed eruption of teeth, Hy... ORPHA:87
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Hypothyroidism, Thyroid h... OMIM:275200
Biliary, Renal, Neurologic, And Skeletal Syndrome
Frontotemporal cerebral atrophy, Inlet ventricular septal defect, Everted lower lip vermilion, Le... OMIM:619534
Congenital Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the external ear, Low-set ears, Cerebral hypoplasia, Microcephaly, Vascular... ORPHA:168486
Spondylometaphyseal Dysplasia, Schmidt Type
Kyphoscoliosis, Abnormality of the wrist, Genu valgum, Polyhydramnios, Cleft soft palate, Abnorma... ORPHA:93316
Indomethacin Embryofetopathy
Hydrops fetalis, Cardiomyopathy, Premature birth, Atrial septal defect, Ventricular septal defect... ORPHA:1909
Microtia, Hearing Impairment, And Cleft Palate
Mixed hearing impairment, Microtia, Cleft palate, Increased incisura length, Overfolded helix OMIM:612290
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Mandibular prognathia, Narrow mouth, Hearing impairment, C... OMIM:608572
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Sensorineural hearing impairment, Microtia, Pericarditis, Long p... ORPHA:1272
Beta-Mercaptolactate Cysteine Disulfiduria
Genu valgum, Low-set, posteriorly rotated ears, High palate, Hypoplasia of the ear cartilage, Umb... ORPHA:1035
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Retrognathia, Sensorineural hearing impairment, Abnormal pinna morphology, Low-set ears, High pal... ORPHA:52055
Monosomy 9P
Congenital diaphragmatic hernia, Microtia, Low posterior hairline, Microcephaly, Long philtrum, S... ORPHA:261112
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Patent ductus arteriosus, Short philtrum, Interrupted aortic arch, Hydrocephalus, Microti... ORPHA:163979
Ohdo Syndrome
Thin vermilion border, Widely spaced teeth, Stenosis of the external auditory canal, Microtia, Na... OMIM:249620
Tetrasomy 9P
Abnormal earlobe morphology, Juxtaductal coarctation of the aorta, Abnormal number of permanent t... ORPHA:3310
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Everted upper lip vermilion, Widely spaced teeth, Macrocephaly, Microtia, Low-set ears, Hearing i... OMIM:619056
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal neck blood vessel morphology, Abnormal lymph node morphology, Papillary thyroid carcinom... ORPHA:319487
Fraser Syndrome
Anorectal anomaly, Dental crowding, Microtia, Abnormal pinna morphology, Myelomeningocele, Death ... ORPHA:2052
Paganini-Miozzo Syndrome
Thin vermilion border, Microtia, Mandibular prognathia, Low-set ears, Downturned corners of mouth... OMIM:301025
Generalized Arterial Calcification Of Infancy
Calcification of the aorta, Mixed hearing impairment, Sensorineural hearing impairment, Cerebral ... ORPHA:51608
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Kyphoscoliosis, Multiple carpal ossification centers, Breech presentation, Dislocated radial head... OMIM:143095
Mucopolysaccharidosis Type 2, Attenuated Form
Sensorineural hearing impairment, Hypertension, Cardiomyopathy, Temporomandibular joint ankylosis... ORPHA:217093
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis, Primary microcephaly, Death in infancy OMIM:619340
Microphthalmia, Syndromic 8
Orofacial cleft, Mandibular prognathia, Cleft upper lip, Cleft palate, Cryptorchidism, Widely-spa... OMIM:601349
Buratti-Harel Syndrome
Atrial septal defect, Dilation of Virchow-Robin spaces, Gastroesophageal reflux, Microtia, Low-se... OMIM:619314
Desmosterolosis
Retrognathia, Abnormal earlobe morphology, Intestinal malrotation, Microcephaly, Bifid uvula, Spl... ORPHA:35107
Campomelia, Cumming Type
Hepatomegaly, Hydrops fetalis, Prematurely aged appearance, Abnormal intestine morphology, Lymphe... ORPHA:1318
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Neutropenia, Anemia, Sensorineural hearing impairment, Limited pronation/supinat... OMIM:616738
Progressive Supranuclear Palsy
Irritability, Memory impairment, Depression, Emotional lability, Impulsivity, Cognitive impairmen... ORPHA:683
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Adrenal hypoplasia, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:613124
Mucopolysaccharidosis Type 2, Severe Form
Sensorineural hearing impairment, Hypertension, Cardiomyopathy, Temporomandibular joint ankylosis... ORPHA:217085
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Cardiomegaly, Cerebellar vermis... OMIM:620642
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Webbed neck, ... ORPHA:209905
Galloway-Mowat Syndrome
Aqueductal stenosis, Abnormal intervertebral disk morphology, Abnormality of the dentition, Micro... ORPHA:2065
Hardikar Syndrome
Hematemesis, Vertigo, Bilateral cleft palate, Hypertension, Intestinal malrotation, Prolonged neo... OMIM:301068
Distal Deletion 10Q
Inferior cerebellar vermis hypoplasia, Facial diplegia, Cochlear malformation, Microcephaly, Prem... ORPHA:96148
Nager Syndrome
Abnormal palate morphology, Low-set, posteriorly rotated ears, Non-midline cleft of the upper lip... ORPHA:245
Seckel Syndrome 7
Abnormal carpal morphology, Madelung deformity, Microtia, Central hypothyroidism, Lumbar scoliosi... OMIM:614851
Neurodevelopmental Disorder With Spasticity And Poor Growth
Secondary microcephaly, High, narrow palate, Patent ductus arteriosus, Gastroesophageal reflux, L... OMIM:618076
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Thin corpus callosum, Hyperlordosis, Kyphosis, Aortic valve stenosis, Wide m... OMIM:253010
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Low-set ears, Low post... OMIM:220210
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hepatomegaly, Hydrops fetalis, Gastroesophageal reflux, Chylopericardiu... ORPHA:2414
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal subclavian artery morphology, Sensorineural hearing impairment, Dental crowding, Intesti... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal subclavian artery morphology, Sensorineural hearing impairment, Dental crowding, Intesti... ORPHA:353277
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Mixed hearing impairment, Multiple joint dislocation, Microdontia, Dentinogenesis... ORPHA:536467
Mitochondrial Complex I Deficiency, Nuclear Type 35
Redundant neck skin, Cardiomyopathy, Pulmonary arterial hypertension, Neonatal death, Nonimmune h... OMIM:619003
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Hypoplasia of the corpus callosum, Retrognathia, Vascular dilatation, Patent ductus arteriosus, A... ORPHA:2637
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Stillbirth, Increased intervertebral space, Scoliosis, Horizon... OMIM:256050
Achondrogenesis, Type Ia
Stillbirth, Hypoplastic sacrum, Hydrops fetalis, Polyhydramnios, Unossified vertebral bodies, Sho... OMIM:200600
Recon Progeroid Syndrome
Thin vermilion border, Anemia, Cutaneous photosensitivity, Attached earlobe, Microtia, Dental cro... OMIM:620370
Hsd10 Disease, Infantile Type
Optic atrophy, Frontotemporal cerebral atrophy, Cerebral atrophy, Abnormal basal ganglia morpholo... ORPHA:391428
Mucopolysaccharidosis Type 7
Anterior beaking of lumbar vertebrae, Arteriovenous malformation, Hydrops fetalis, Scoliosis, Lym... ORPHA:584
Pendred Syndrome
Thyroid carcinoma, Abnormal vestibular function, Cochlear malformation, Congenital sensorineural ... OMIM:274600
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Atrial septal defect, Hypoplasia of the corpus callosum, Hydrops... OMIM:616546
Trisomy 8Q
Orofacial cleft, Low-set, posteriorly rotated ears, Non-midline cleft of the upper lip, High pala... ORPHA:1752
Larsen Syndrome
Multiple carpal ossification centers, Spondylolysis, Knee dislocation, Dislocated wrist, Intraute... OMIM:150250
Kagami-Ogata Syndrome
Kyphoscoliosis, Large placenta, Polyhydramnios, Webbed neck, Microtia, Diastasis recti, Coat hang... ORPHA:254519
Tetraploidy
Short philtrum, Micrognathia, Cleft palate, Hypoplasia of the ear cartilage, Aplasia/Hypoplasia o... ORPHA:3305
Bullous Dystrophy, Hereditary Macular Type
Microcephaly, Death in childhood, Acrocyanosis OMIM:302000
Combined Oxidative Phosphorylation Deficiency 47
Long philtrum, Hepatomegaly, Sensorineural hearing impairment, Low-set ears, Dehydration, Microce... OMIM:618958
Absence Of The Pulmonary Artery
Abnormal inferior vena cava morphology, Abnormal heart morphology, Cardiomegaly, Abnormal cardiac... ORPHA:980
Adams-Oliver Syndrome 5
Patent foramen ovale, Esophageal varix, Pulmonary arterial hypertension, Right atrial enlargement... OMIM:616028
Zttk Syndrome
Breech presentation, Relative macrocephaly, Kyphosis, Bifid uvula, Cervical ribs, Intrauterine gr... OMIM:617140
Hydrops Fetalis, Nonimmune
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis, Anemia OMIM:236750
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Recurrent otitis media, Microtia, Oligodontia, Micrognathia, Posteriorly rotated ears, Wide mouth... OMIM:602562
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Congenital hypothyro... ORPHA:226313
Feingold Syndrome 1
Everted lower lip vermilion, Tracheoesophageal fistula, Microcephaly, Decreased fetal movement, T... OMIM:164280
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Microtia, Pulmonary arterial hypertension, Hearing impairment, Microcephaly, M... ORPHA:2282
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Deafness, Conductive, With Malformed External Ear
Abnormal pinna morphology, Low-set ears, Abnormality of the middle ear ossicles, Conductive heari... OMIM:221300
Meacham Syndrome
Enlarged kidney, Death in infancy, Bicuspid aortic valve, Single umbilical artery, Transposition ... OMIM:608978
Hutchinson-Gilford Progeria Syndrome
Retrognathia, Dental crowding, Hypertension, Ventricular hypertrophy, Relative macrocephaly, Fema... ORPHA:740
You-Hoover-Fong Syndrome
Kyphoscoliosis, Double aortic arch, Hearing impairment, Microcephaly, Coarctation of aorta, Cleft... OMIM:616954
Immunodeficiency 42
Splenomegaly, Recurrent aphthous stomatitis, Hypoplasia of the thymus OMIM:616622
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Low-set ears, Abnormal rib morphology, Micrognathia, Downturned corners of mouth,... ORPHA:93267
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal neck blood vessel morphology, Abnormal lymph node morphology, Papillary thyroid carcinom... ORPHA:97290
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Long philtrum, Carpal bone hypoplasia, Thick lower lip vermilion, Cubitus valgus, Broad neck, Ant... OMIM:611717
Schilbach-Rott Syndrome
Microtia, Narrow mouth, Microcephaly, Micrognathia, Bifid uvula, Posteriorly rotated ears, Submuc... OMIM:164220
Proteus-Like Syndrome
Macrocephaly, Venous insufficiency, Genu recurvatum, Hydrocephalus, Mandibular prognathia, Open b... ORPHA:2969
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Kyphoscoliosis, Decreased fetal movement, Mixed hearing impairment, Polyhydramnios, Patent ductus... OMIM:614557
Apert Syndrome
Chronic otitis media, Limited elbow movement, Megalencephaly, Bifid uvula, Craniosynostosis, Narr... OMIM:101200
Monosomy 18P
Webbed neck, Short philtrum, Abnormal antihelix morphology, Tooth malposition, Hypodontia, Low po... ORPHA:1598
Meier-Gorlin Syndrome 4
Breast hypoplasia, Thick lower lip vermilion, Genu recurvatum, Microtia, Low-set ears, Narrow mou... OMIM:613804
Ear-Patella-Short Stature Syndrome
Retrognathia, Microcephaly, Bifid uvula, Intrauterine growth retardation, Craniosynostosis, Micro... ORPHA:2554
Agnathia-Otocephaly Complex