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
Malar flattening, Smooth philtrum, Truncus arteriosus, Thin upper lip vermilion, Cleft palate OMIM:611867
Treacher-Collins Syndrome
Abnormality of the vertebral column, Multiple enchondromatosis, Open bite, Cryptorchidism, Microg... ORPHA:861
Emanuel Syndrome
Recurrent otitis media, Bifid uvula, Long philtrum, Cryptorchidism, Micrognathia, Microcephaly, D... ORPHA:96170
Emanuel Syndrome
Recurrent otitis media, Long philtrum, Cryptorchidism, Micrognathia, Microcephaly, Scoliosis, Ven... OMIM:609029
Diabetic Embryopathy
Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Microcephaly, Ventricula... ORPHA:1926
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Webbed neck, Short neck, Micrognathia, High, narrow palate, Ventricular septal defect, Truncus ar... ORPHA:2516
Pierre Robin Syndrome
Pierre-Robin sequence, Micrognathia, Glossoptosis, Cor pulmonale, Cleft palate OMIM:261800
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Vertebral hypoplasia, Cleft upper lip, Flexion contracture, Aplasia/Hypoplasia involving the cent... OMIM:308050
Johnson Neuroectodermal Syndrome
Hypogonadotropic hypogonadism, Patent ductus arteriosus, Conductive hearing impairment, Carious t... OMIM:147770
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Aortic valve stenosis, Intrauterine growth retardation, Patent d... ORPHA:2306
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Hydranencephaly, Ventricular septal defect, Truncus arteriosus, Cleft palate OMIM:601355
Fg Syndrome Type 1
Long philtrum, Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Optic nerve hypoplasia,... ORPHA:93932
Auriculocondylar Syndrome 2
Narrow mouth, Cleft at the superior portion of the pinna, Low-set ears, Overfolding of the superi... OMIM:614669
Branchiootorenal Syndrome 1
Bifid uvula, Microdontia, Cleft palate, Branchial cyst, High palate, Intestinal malrotation, Cond... OMIM:113650
Agenesis Of The Corpus Callosum And Congenital Lymphedema
High palate, Sacral dimple, Intrauterine growth retardation, Long philtrum, Patent ductus arterio... OMIM:613623
Double Outlet Right Ventricle
Narrow mouth, Tetralogy of Fallot, Abnormality of cartilage of external ear, Intestinal malrotati... ORPHA:3426
Trisomy 13
Long philtrum, Cryptorchidism, High, narrow palate, Abnormal rib morphology, Scoliosis, Ventricul... ORPHA:3378
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:172880
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short neck, Micrognathia, Low-set, posteriorly rotated ears, Thin upper lip vermilion, Cleft palate ORPHA:2015
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Cryptorchidism, Cerebellar hypoplasia, Aplasia/Hypoplasia of the co... ORPHA:2166
Oculoauriculofrontonasal Syndrome
Narrow mouth, Conductive hearing impairment, Microtia, Pericallosal lipoma, Micrognathia, Cleft l... ORPHA:398156
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Recurrent otitis media, Cryptorchidism, Micrognathia, Double outlet right ventricle, Facial eryth... OMIM:619503
Mullegama-Klein-Martinez Syndrome
Short philtrum, Long philtrum, Low-set ears, Sensorineural hearing impairment, Microtia, Coarctat... OMIM:301022
22Q11.2 Deletion Syndrome
Hypothyroidism, Long philtrum, Small earlobe, Tricuspid atresia, Cryptorchidism, Gastrointestinal... ORPHA:567
Pallister-Hall Syndrome
Hypothalamic hamartoma, Abnormal corpus callosum morphology, Primary adrenal insufficiency, Bifid... ORPHA:672
Congenital Disorder Of Glycosylation, Type Iig
Progressive microcephaly, Cryptorchidism, Micrognathia, Abnormal rib morphology, Anemia, Scoliosi... OMIM:611209
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Genitopalatocardiac Syndrome
Cleft upper lip, Low-set ears, Double outlet right ventricle, Micrognathia, Right aortic arch, Ve... OMIM:231060
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Dysplastic tricuspid valve, Micrognathia, Hypoplastic left heart, Ventricular se... OMIM:265380
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Oral ulcer, Aplasia of the thymus OMIM:602450
Intellectual Developmental Disorder, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
High palate, Cutaneous mastocytosis, Conductive hearing impairment, Dermatographic urticaria, Mic... OMIM:248910
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Coarctation of aorta, Bicuspid aortic valve, Transp... OMIM:612474
Branchiogenic Deafness Syndrome
Branchial cyst, Mixed hearing impairment, Underdeveloped tragus, Conductive hearing impairment, S... ORPHA:50815
Mosaic Trisomy 14
High palate, Ectopic anus, Short neck, Cryptorchidism, Microtia, Micrognathia, Abnormal rib morph... ORPHA:1703
Camptodactyly Syndrome, Guadalajara Type 1
Narrow mouth, High palate, Sacral dimple, Abnormal form of the vertebral bodies, Intrauterine gro... ORPHA:1327
Neu-Laxova Syndrome 2
High palate, Short neck, Low-set ears, Micrognathia, Cleft palate OMIM:616038
Smith-Magenis Syndrome
Abnormality of the outer ear, Velopharyngeal insufficiency, Abnormality of the thyroid gland, Abn... OMIM:182290
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Abnormal cranial nerve morphology, Conical tooth, Sensorineural hearing impairment, Hypodontia, M... ORPHA:90024
Microcephaly-Capillary Malformation Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Patent foramen ovale, Low-set ears, Progress... OMIM:614261
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cerebellar hypoplasia, Micrognathia, Microcephaly, Ventricular septal defect, Ascites, Cardiomega... OMIM:616897
Monosomy 22
High palate, Short neck, Long philtrum, Hepatosplenomegaly, Open mouth, Low-set, posteriorly rota... ORPHA:96123
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Recurrent otitis media, Hypoplasia of the corpus callosum, Pineal cyst, Cerebellar hypoplasia, Ga... ORPHA:513456
Distal Monosomy 17Q
Narrow mouth, Abnormal form of the vertebral bodies, Patent ductus arteriosus, Abnormality of the... ORPHA:1597
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Hypothyroidism, Bifid uvula, Cryptorchidism, Micrognathia, Microcephaly, Ventricular septal defec... ORPHA:3047
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Optic nerve hypoplasia, Decreased thyroid-stimulating hormone level, Macroglo... ORPHA:226307
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Micrognathia, Truncus arteriosus OMIM:228940
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Abnormality of the outer ear, Large earlobe, Absent tragus, Underdevelop... ORPHA:79113
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Short philtrum, Tented upper lip vermilion, Congenital hypothyroidism, Microcephaly, Delayed erup... ORPHA:521445
Mosaic Trisomy 9
Endocardial fibroelastosis, Cryptorchidism, Dextrocardia, Micrognathia, Microcephaly, Dandy-Walke... ORPHA:99776
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Ectopic anus, Hypothyroidism, Short neck, Camptodactyly of finger, Microtia, Low-set, posteriorly... ORPHA:2994
Thymic Aplasia With Fetal Death
Abnormality of the endocrine system, Truncus arteriosus OMIM:274210
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hypothyroidism, Bifid uvula, Cryptorchidism, Gastrointestinal dysmotility, Macroglossia, Microcep... ORPHA:453499
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Atrial septal defect, Intestinal malrotation, Cryptorchidism, Abnormal heart morph... ORPHA:401935
Gm1 Gangliosidosis
Cherry red spot of the macula, Long philtrum, Macroglossia, Scoliosis, Ventricular septal defect,... ORPHA:354
Isolated Cleft Lip
Supernumerary maxillary incisor, Bilateral cleft lip, Non-midline cleft lip, Velopharyngeal insuf... ORPHA:199302
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate, Micrognathia ORPHA:718
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hemifacial Atrophy, Progressive
Tongue atrophy, Kyphosis, Delayed eruption of teeth, Microtia, Horner syndrome, Dental malocclusi... OMIM:141300
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cerebral atrophy, Craniosynostosis, Long philtrum, Patent ductus arteriosus, Low-set ears, Crypto... ORPHA:171839
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Shoulder subluxation, Long philtrum, Optic nerve hypoplasia, Micrognathia, Microcephaly, Abnormal... ORPHA:508498
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Lateral Meningocele Syndrome
Cryptorchidism, Atresia of the external auditory canal, Micrognathia, High, narrow palate, Scolio... ORPHA:2789
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Congenital Hypothyroidism
Hypothyroidism, Abnormal pericardium morphology, Abnormality of the thyroid gland, Macroglossia, ... ORPHA:442
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Microcephaly, Ventricular septal defect, Thin upper lip vermilion, Cleft pal... ORPHA:261330
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Microtia, first degree, Conical tooth, Anteverted ears, Microdontia, Widely spaced teeth, Aplasia... OMIM:610706
Holoprosencephaly
Diabetes insipidus, Cryptorchidism, Panhypopituitarism, Aplasia/Hypoplasia of the corpus callosum... ORPHA:2162
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Hypothyroidism, Bifid uvula, Open bite, Cryptorchidism, Gastroi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Hypothyroidism, Bifid uvula, Open bite, Cryptorchidism, Gastroi... ORPHA:352665
Charge Syndrome
Hypothyroidism, Radial head subluxation, Cryptorchidism, Dysplastic tricuspid valve, Aplasia of t... OMIM:214800
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal... ORPHA:860
Lateral Meningocele Syndrome
Long philtrum, Cryptorchidism, Micrognathia, Scoliosis, Vertebral fusion, High palate, Short neck... OMIM:130720
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Micrognathia, Oral synechia, Cleft palate ORPHA:2016
Bor Syndrome
Branchial cyst, Hearing impairment, Atresia of the external auditory canal, Enlarged cochlear aqu... ORPHA:107
Congenital Disorder Of Glycosylation, Type Ik
Cerebral atrophy, Flexion contracture, Intrauterine growth retardation, Nonimmune hydrops fetalis... OMIM:608540
Conductive Deafness-Malformed External Ear Syndrome
High palate, Low-set ears, Conductive hearing impairment, Sensorineural hearing impairment, Micro... ORPHA:3216
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Irritability, Hyperactivity OMIM:616657
Nuchal Bleb, Familial
Fetal cystic hygroma, Cystic hygroma, Stillbirth OMIM:257350
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Abnormality of the dentition, Thick upper lip vermilion, Mandibular prognathia, T... OMIM:226440
Pallister-Hall Syndrome
Hypothalamic hamartoma, Preductal coarctation of the aorta, Radial head subluxation, Panhypopitui... OMIM:146510
Alg3-Cdg
High palate, Hypoplasia of the corpus callosum, Abnormality of the gastrointestinal tract, Abnorm... ORPHA:79321
X-Linked Mandibulofacial Dysostosis
High palate, Webbed neck, Cryptorchidism, Conductive hearing impairment, Sensorineural hearing im... ORPHA:1131
Trisomy 1Q
Narrow mouth, Abnormality of the outer ear, Agenesis of corpus callosum, Patent ductus arteriosus... ORPHA:261344
Acrocraniofacial Dysostosis
Short philtrum, Craniosynostosis, Abnormal form of the vertebral bodies, Conductive hearing impai... ORPHA:949
Au-Kline Syndrome
High palate, Craniosynostosis, Sacral dimple, Cryptorchidism, Open mouth, Oligodontia, Microtia, ... OMIM:616580
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Craniofacial osteosclerosis, Micrognathia, Scoliosis, Ventricular septal defect, Mac... OMIM:300373
Digeorge Syndrome
Hypothyroidism, Bifid uvula, Recurrent otitis media, Micrognathia, Ovarian cyst, High, narrow pal... OMIM:188400
Trisomy 8P
Fetal pyelectasis, Bifid uvula, Cryptorchidism, Microcephaly, Dandy-Walker malformation, Retrogna... ORPHA:264450
Osteopathia Striata-Cranial Sclerosis Syndrome
Cerebral calcification, Bifid uvula, Delayed eruption of teeth, Low-set ears, Conductive hearing ... ORPHA:2780
Viss Syndrome
Hypothyroidism, Bifid uvula, Carotid artery tortuosity, Micrognathia, High, narrow palate, Macrog... OMIM:619472
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Partial absence of cerebellar vermis, Dysphagia, Thin upper lip vermi... ORPHA:280633
Classic Multiminicore Myopathy
High palate, Right ventricular hypertrophy, Congenital muscular dystrophy, Muscle fiber atrophy, ... ORPHA:324604
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Reduced radioactive iodine uptake, ... ORPHA:90674
3-Hydroxyisobutyric Aciduria
Cerebral calcification, Hypogonadotropic hypogonadism, Long philtrum, Intrauterine growth retarda... ORPHA:939
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Low-set ears, Atrial septal defect, Everted lower lip vermilion, Tented upper lip... OMIM:616898
Stankiewicz-Isidor Syndrome
Pineal cyst, Low-set ears, Patent ductus arteriosus, Cryptorchidism, Micrognathia, Ventricular se... OMIM:617516
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Branchiootic Syndrome
Abnormality of the outer ear, Conductive hearing impairment, Sensorineural hearing impairment, At... ORPHA:52429
Femoral-Facial Syndrome
Abnormal sacrum morphology, Long philtrum, Thin upper lip vermilion, Low-set ears, Cryptorchidism... ORPHA:1988
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Cryptorchidism, Sensorineural hearing impairment, Gastroesophageal reflux, Ankle ... ORPHA:435938
Auriculocondylar Syndrome 1
Narrow mouth, Cupped ear, Cleft at the superior portion of the pinna, Low-set ears, Overfolding o... OMIM:602483
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Impaired sensitivity to thyroid stimulating hormone, Congenita... ORPHA:90673
Lethal Congenital Contracture Syndrome 10
Overriding aorta, High palate, Thoracic scoliosis, Short neck, Intrauterine growth retardation, L... OMIM:617022
Achondrogenesis Type 1B
Short neck, Long philtrum, Cystic hygroma, Hydrops fetalis, Micrognathia, Abnormal rib morphology... ORPHA:93298
Fryns Syndrome
Long philtrum, Cryptorchidism, Tented upper lip vermilion, Micrognathia, Dandy-Walker malformatio... ORPHA:2059
Genetic Transient Congenital Hypothyroidism
Postterm pregnancy, Abnormal radioactive iodine uptake test result, Maternal autoimmune disease, ... ORPHA:226316
Fibrochondrogenesis 1
Narrow mouth, Anterior rib cupping, Short neck, Long philtrum, Low-set ears, Patent foramen ovale... OMIM:228520
Sialidosis Type 2
Kyphosis, Flexion contracture, Skeletal muscle atrophy, Hydrops fetalis, Splenomegaly, Hepatomega... ORPHA:87876
Temple Syndrome
High palate, Short philtrum, Bifid uvula, Recurrent otitis media, Intrauterine growth retardation... OMIM:616222
Branchiootic Syndrome 1
Cupped ear, Low-set ears, Sensorineural hearing impairment, Microtia, Cochlear malformation, Bran... OMIM:602588
Axial Mesodermal Dysplasia Spectrum
Missing ribs, Micrognathia, Abnormal rib morphology, Anorectal anomaly, Scoliosis, Oligohydramnio... ORPHA:1834
Achondrogenesis Type 1A
Short neck, Long philtrum, Cystic hygroma, Hydrops fetalis, Micrognathia, Thickened nuchal skin f... ORPHA:93299
Achondrogenesis
Short neck, Long philtrum, Cystic hygroma, Hydrops fetalis, Micrognathia, Thickened nuchal skin f... ORPHA:932
19P13.3 Microduplication Syndrome
Narrow mouth, Unilateral cryptorchidism, Short philtrum, Cerebral atrophy, Intrauterine growth re... ORPHA:447980
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Short neck, Flexion contracture, Low-set ears, Pterygium, Cryptorchidism, Hydrops f... ORPHA:1865
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Low-set ears, Atrial septal defect, Dehydration, Micrognathia, Jaundice, Microcephaly, Lissenceph... OMIM:208085
Distal Tetrasomy 15Q
Micrognathia, Dandy-Walker malformation, Scoliosis, Retrognathia, Hypoplastic aortic arch, High p... ORPHA:314588
Velocardiofacial Syndrome
Pierre-Robin sequence, Tetralogy of Fallot, Abnormality of the ear, Velopharyngeal insufficiency,... OMIM:192430
Catifa Syndrome
Delayed eruption of teeth, Long philtrum, Microtia, Cleft lip, Increased overbite, Mild microceph... OMIM:618761
Robinow Syndrome, Autosomal Dominant 2
Dental malocclusion, Sacral dimple, Long philtrum, Thin upper lip vermilion, Abnormality of the d... OMIM:616331
Isotretinoin Syndrome
Abnormality of the outer ear, Biparietal narrowing, Sacral dimple, Microtia, Micrognathia, Spina ... ORPHA:2305
Cleft Lip With Or Without Cleft Palate
Non-midline cleft lip, Submucous cleft of soft and hard palate, Non-midline cleft palate, Hearing... ORPHA:1991
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Short ribs, Hydrops fetalis, Breech presentation, ... OMIM:600972
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Microtia, Micrognathia, Malar prominence, Thin upp... ORPHA:3459
Mucopolysaccharidosis, Type Vii
Recurrent otitis media, Anterior beaking of lumbar vertebrae, Widely spaced teeth, Macroglossia, ... OMIM:253220
Acitretin/Etretinate Embryopathy
High palate, Cupped ear, Median cleft palate, Conotruncal defect, Bradycardia, Maternal teratogen... ORPHA:40366
Microphthalmia, Syndromic 9
Hypoplastic spleen, Tetralogy of Fallot, Low-set ears, Patent ductus arteriosus, Atrial septal de... OMIM:601186
Hypertelorism, Microtia, Facial Clefting Syndrome
Narrow mouth, Abnormality of the vertebral column, Small thenar eminence, Cleft upper lip, Conduc... OMIM:239800
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Flexion contracture, Microtia, Polyhydramnios, Neonatal death, Congenital pyloric atresia, Macroc... OMIM:612138
Monosomy 18Q
Hypothyroidism, Cerebellar hypoplasia, Left-to-right shunt, Atlantoaxial abnormality, Microcephal... ORPHA:1600
Meier-Gorlin Syndrome 8
Narrow mouth, Intrauterine growth retardation, Low-set ears, Microtia, Micrognathia, Microcephaly... OMIM:617564
Alg9-Cdg
Bifid uvula, Long philtrum, Progressive microcephaly, Micrognathia, Ventricular septal defect, Vi... ORPHA:79328
Acrocardiofacial Syndrome
Tetralogy of Fallot, Cleft upper lip, Intrauterine growth retardation, Low-set ears, Cryptorchidi... ORPHA:2008
Charge Syndrome
Abnormal cranial nerve morphology, Cryptorchidism, Abnormal aortic valve morphology, Abnormal rib... ORPHA:138
Zechi-Ceide Syndrome
Short philtrum, Abnormal helix morphology, Low-set ears, Atrial septal defect, Oligodontia, Condu... ORPHA:217017
Greenberg Dysplasia
Hypoplastic vertebral bodies, Toxemia of pregnancy, 11 pairs of ribs, Pancreatic islet-cell hyper... OMIM:215140
Craniosynostosis, Herrmann-Opitz Type
Webbed neck, Craniosynostosis, Intrauterine growth retardation, Microtia, Micrognathia, Abnormal ... ORPHA:2145
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Short neck, Intrauterine growth retardation, Microtia, Macroglossia, Punctate v... ORPHA:1914
Distal 22Q11.2 Microduplication Syndrome
Long philtrum, Cryptorchidism, Micrognathia, Macroglossia, Microcephaly, Scoliosis, Ventricular s... ORPHA:261337
Acrocephalopolydactyly
Hepatosplenomegaly, Short neck, Cystic hygroma, Microtia, Genu recurvatum, Abnormality of the mouth ORPHA:221054
22Q11.2 Duplication Syndrome
Tetralogy of Fallot, Micrognathia, Microcephaly, Hypoplastic left heart, Scoliosis, Aplasia/Hypop... ORPHA:1727
Chromosome 18Q Deletion Syndrome
Bifid uvula, Cryptorchidism, Cerebellar hypoplasia, Atresia of the external auditory canal, Micro... OMIM:601808
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft upper lip, Cryptorchidism, Holoprosencephaly, Microtia, Congenital diaphragmatic hernia, Mi... OMIM:612530
Johnson Neuroectodermal Syndrome
Tetralogy of Fallot, Conductive hearing impairment, Carious teeth, Everted lower lip vermilion, A... ORPHA:2316
Saethre-Chotzen Syndrome
Open bite, Cryptorchidism, Prominent crus of helix, Scoliosis, Cleft palate, Conductive hearing i... ORPHA:794
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Hepatosplenomegaly, Lymphopenia, Aplasia of the thymus OMIM:242700
20P12.3 Microdeletion Syndrome
Narrow mouth, Long philtrum, Wolff-Parkinson-White syndrome, Atrial septal defect, Microtia, Hypo... ORPHA:261295
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Verloove Vanhorick-Brubakk Syndrome
Abnormal form of the vertebral bodies, Low-set ears, Non-midline cleft lip, Cryptorchidism, Atres... ORPHA:3429
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Warsaw Breakage Syndrome
High palate, Tetralogy of Fallot, Cupped ear, Cutis marmorata, Intrauterine growth retardation, M... OMIM:613398
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Cryptorchidism, Tooth agenesis, Micrognathia, Congenital diaphragmatic herni... ORPHA:1166
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, High palate, Tetralogy of Fallot, Recurrent otitis media, Cyanosis, Patent duct... ORPHA:3304
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Dilated cardiomyopathy, Hypogonadotropic hypogonadism, Aortic regurgitation, Pulmonary ... ORPHA:2326
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Thymic Aplasia
Sinusitis, Hypothyroidism, T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proport... ORPHA:83471
Opitz-Kaveggia Syndrome
Microtia, first degree, Long philtrum, Cryptorchidism, Micrognathia, Cleft palate, Short neck, Cl... OMIM:305450
Down Syndrome
Complete atrioventricular canal defect, Hypothyroidism, Atlantoaxial instability, Shallow acetabu... OMIM:190685
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Parc Syndrome
Microretrognathia, Cleft palate OMIM:600331
Distal Xq28 Microduplication Syndrome
Upper eyelid edema, High palate, Hypothyroidism, Patent foramen ovale, Patent ductus arteriosus, ... ORPHA:293939
Oculoauriculovertebral Spectrum With Radial Defects
Ectopic anus, Non-midline cleft lip, Conductive hearing impairment, Sensorineural hearing impairm... ORPHA:2549
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatoblastoma, Long philtrum, Diastasis recti, Cryptorchidism, Tented upper lip vermilion, Micro... ORPHA:96334
Phaver Syndrome
Myelomeningocele, Pterygium, Abnormal form of the vertebral bodies, Intrauterine growth retardati... ORPHA:2876
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune hemolytic anemia,... OMIM:102700
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
High palate, Intrauterine growth retardation, Diabetes insipidus, Long philtrum, Low-set ears, Co... OMIM:618500
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cryptorchidism, Scoliosis, Retrognathia, Camptodactyly of toe, Cleft palate, Narrow ... OMIM:619110
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Abnormal macrophage morphology, Left ventricular systolic dysfunctio... ORPHA:353
Kagami-Ogata Syndrome
Flexion contracture, Long philtrum, Patent ductus arteriosus, Diastasis recti, Atrial septal defe... OMIM:608149
Mycophenolate Mofetil Embryopathy
Agenesis of corpus callosum, Hydrops fetalis, Tracheoesophageal fistula, Atresia of the external ... ORPHA:268249
De Barsy Syndrome
Premature rupture of membranes, Abnormal corpus callosum morphology, Progressive microcephaly, Cr... ORPHA:2962
Tarp Syndrome
Tongue nodules, High palate, Tetralogy of Fallot, Abnormal corpus callosum morphology, Prominent ... OMIM:311900
Heart And Brain Malformation Syndrome
Cerebral atrophy, Prominent metopic ridge, Low-set ears, Global brain atrophy, Aplasia/Hypoplasia... OMIM:616920
Infantile Sialic Acid Storage Disease
High palate, Cerebral atrophy, Vacuolated lymphocytes, Congestive heart failure, Ascites, Hydrops... OMIM:269920
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Reduced radioactive iodine uptake, Bradycardia, Sensorineura... ORPHA:95716
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Shoulder dislocation, Long philtrum, 11 pairs of ribs, Microdontia, Bilateral elbow dislocations,... OMIM:245600
Van Maldergem Syndrome 1
Atresia of the external auditory canal, Tented upper lip vermilion, Micrognathia, Scoliosis, High... OMIM:601390
Cowden Syndrome 5
Narrow mouth, High palate, Hypothyroidism, Subcutaneous lipoma, Kyphosis, Hearing impairment, Hyp... OMIM:615108
Cleft Lip/Palate
Abnormal number of permanent teeth, Peg-shaped maxillary lateral incisors, Velopharyngeal insuffi... ORPHA:199306
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
High palate, Short neck, Sacral dimple, Intrauterine growth retardation, Long philtrum, Cryptorch... ORPHA:505237
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Hepatoblastoma, Total anomalous pulmonary venous return, Diasta... OMIM:312870
Sweeney-Cox Syndrome
Narrow mouth, High palate, Short philtrum, Cupped ear, Prominent metopic ridge, Low-set ears, Cer... OMIM:617746
Myhre Syndrome
Generalized muscle hypertrophy, Cryptorchidism, Microcephaly, Vertebral fusion, Ventricular septa... OMIM:139210
Branchiogenic-Deafness Syndrome
Branchial cyst, Trismus, Sensorineural hearing impairment, Atresia of the external auditory canal... OMIM:609166
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Dextrocardia, Situs inversus totalis, Right aortic arch, Goiter, Hearing impairment OMIM:617577
Synaptic Congenital Myasthenic Syndromes
Type 2 muscle fiber atrophy, High palate, Skeletal muscle atrophy, Limited wrist extension, Hand ... ORPHA:98915
Tetraamelia-Multiple Malformations Syndrome
Narrow mouth, Septo-optic dysplasia, Missing ribs, Agenesis of corpus callosum, Cryptorchidism, M... ORPHA:3301
Chromosome 1P36 Deletion Syndrome, Distal
Hypothyroidism, Bifid uvula, Long philtrum, Cryptorchidism, 11 pairs of ribs, Congenital hypothyr... OMIM:607872
Immunodeficiency 8
Hyperactivity OMIM:615401
Pelvis-Shoulder Dysplasia
Hydrocephalus, Abnormal form of the vertebral bodies, Thick anterior alveolar ridges, Prominent p... ORPHA:2839
Hennekam-Beemer Syndrome
High palate, Mastocytosis, Arrhythmia, Conductive hearing impairment, Thick lower lip vermilion, ... ORPHA:2135
Even-Plus Syndrome
Coronal cleft vertebrae, High palate, Vertebral clefting, Short neck, Patent foramen ovale, Dyspl... OMIM:616854
Van Maldergem Syndrome 2
Cryptorchidism, Atresia of the external auditory canal, Tented upper lip vermilion, Micrognathia,... OMIM:615546
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Narrow mouth, Genu varum, Abnormal aortic arch morphology, Intrauterine growth ... ORPHA:1110
Mulibrey Nanism
Hypoplastic frontal sinuses, Pericardial constriction, Intrauterine growth retardation, Enamel hy... OMIM:253250
Weaver-Williams Syndrome
Narrow mouth, Cleft palate, Protruding ear ORPHA:3448
Cowden Syndrome 6
Narrow mouth, High palate, Hypothyroidism, Subcutaneous lipoma, Kyphosis, Hearing impairment, Hyp... OMIM:615109
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short philtrum, Low-set ears, Aganglionic megacolon, Microtia, Microretrognathia, Hydrocephalus, ... OMIM:613603
Treacher Collins Syndrome 3
Abnormality of the outer ear, Conductive hearing impairment, Microtia, Micrognathia, Malar flatte... OMIM:248390
8Q24.3 Microdeletion Syndrome
Long philtrum, Cleft maxillary alveolus, Gastrointestinal hemorrhage, Global brain atrophy, Optic... ORPHA:508488
Minicore Myopathy With External Ophthalmoplegia
High palate, Minicore myopathy, Nemaline bodies, Skeletal muscle atrophy, Type 1 and type 2 muscl... OMIM:255320
Lambert Syndrome
Intrauterine growth retardation, Jaundice, Malar flattening, Ventricular septal defect, Branchial... ORPHA:1296
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wormian bones, Short neck, Low-set ears, Short ribs, Dysplastic sacrum, Deep philtrum, Microtia, ... OMIM:613320
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Situs inversus totalis, Pulmonic stenosis, Asplenia, Truncus arterio... OMIM:615415
Contractures-Developmental Delay-Pierre Robin Syndrome
Abnormality of frontal sinus, Atrial septal defect, Abnormal hippocampus morphology, Thoracolumba... ORPHA:436003
Alg8-Cdg
Hypoplasia of the corpus callosum, Abnormality of the gastrointestinal tract, Intrauterine growth... ORPHA:79325
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Adenoiditis, Abnormal aortic valve morphology, Abnormal rib mor... ORPHA:581
X-Linked Intellectual Disability, Van Esch Type
Intrauterine growth retardation, Coronal craniosynostosis, Cryptorchidism, Decreased serum testos... ORPHA:163976
Skin Creases, Congenital Symmetric Circumferential, 2
Narrow mouth, Short neck, Low-set ears, Cryptorchidism, Microdontia, Carious teeth, Microtia, Mic... OMIM:616734
Holoprosencephaly 13, X-Linked
Vertebral clefting, Septo-optic dysplasia, Optic nerve hypoplasia, Micrognathia, Double outlet ri... OMIM:301043
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Bifid uvula, Long philtrum, Cryptorchidism, Optic nerve hypoplasia, Widely spaced teeth, Right bu... OMIM:617506
Fetal Gaucher Disease
Pancytopenia, High palate, Flexion contracture, Hydrops fetalis, Splenomegaly, Hepatomegaly, Decr... ORPHA:85212
Disorder Of Sex Development-Intellectual Disability Syndrome
Short philtrum, Severe sensorineural hearing impairment, Kyphosis, Short neck, Microtia, Genu val... ORPHA:2983
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Gm1-Gangliosidosis, Type I
Thickened ribs, Cherry red spot of the macula, Dilated cardiomyopathy, Cerebral degeneration, Kyp... OMIM:230500
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate, Abnormal mandible morphology, Torticollis OMIM:217150
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Cleft soft palate, Irregular acetabular roof, Gastroesophage... ORPHA:93316
Cowden Syndrome 1
Hypothyroidism, Colonic diverticula, Ovarian carcinoma, Micrognathia, Ovarian cyst, Scoliosis, Ly... OMIM:158350
Fetal Akinesia Deformation Sequence 2
High palate, Low-set ears, Cryptorchidism, Tented upper lip vermilion, Micrognathia, Broad neck, ... OMIM:618388
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect, Microtia, Micrognathia, Cleft palate, Anotia OMIM:243440
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Cryptorchidism, Macroglossia, Microcephaly, Ventricular septal defect, Reduced alpha/beta synthes... OMIM:301040
Cardiocranial Syndrome, Pfeiffer Type
Small hypothenar eminence, Bifid uvula, Intrauterine growth retardation, Temporomandibular joint ... ORPHA:2872
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Webbed neck, Tetralogy of Fallot, Systolic heart murmur, Low-set ears, Tricuspid atresi... OMIM:617478
Craniofacial Microsomia
Vertebral hypoplasia, Block vertebrae, Maxillozygomatic hypoplasia, Atresia of the external audit... OMIM:164210
Gaucher Disease, Perinatal Lethal
Everted lower lip vermilion, Micrognathia, Microcephaly, Anemia, Dysphagia, Retrognathia, Ascites... OMIM:608013
Yunis-Varon Syndrome
Cryptorchidism, Abnormality of dental structure, Cerebellar hypoplasia, Micrognathia, High, narro... ORPHA:3472
Deafness, Conductive, With Malformed External Ear
Low-set ears, Conductive hearing impairment, Hypogonadism, Abnormality of the middle ear ossicles OMIM:221300
Mesomelic Limb Shortening And Bowing
Cleft palate, Micrognathia, Retrognathia OMIM:249710
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Short ribs, Hydrops fetalis, Micrognathia, Polyhydramnios,... OMIM:215045
Nabais Sa-De Vries Syndrome, Type 2
High palate, Hypothyroidism, Low-set ears, Gastroesophageal reflux, Microtia, Micrognathia, Hypop... OMIM:618829
Wolf-Hirschhorn Syndrome
Abnormality of the vertebral column, Cryptorchidism, Micrognathia, Microcephaly, Scoliosis, Abnor... ORPHA:280
Short Stature And Facioauriculothoracic Malformations
High palate, Cupped ear, Cleft upper lip, Short neck, Low-set ears, Cervical ribs, Microtia, Micr... OMIM:609654
Transaldolase Deficiency
Hepatosplenomegaly, Atrial septal defect, Biventricular hypertrophy, Hydrops fetalis, Coarctation... ORPHA:101028
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, 11 pairs of ribs, Micrognathia, Microcephaly, Agenesis of cerebellar vermis, Olig... OMIM:210710
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Short neck, Intrauterine growth retardation, Low-set ears, Microtia, Relative macrocephaly, Micro... OMIM:618336
Distal Monosomy 12Q
Long philtrum, Micrognathia, High, narrow palate, Microcephaly, Diabetes mellitus, Macrocephaly, ... ORPHA:96149
Cranioectodermal Dysplasia 2
Horizontal ribs, Bile duct proliferation, Everted lower lip vermilion, Widely spaced teeth, Micro... OMIM:613610
Mgat2-Cdg
Kyphosis, Prominent antihelix, Patent ductus arteriosus, Progressive microcephaly, Arrhythmia, Op... ORPHA:79329
Scimitar Syndrome
Pulmonary artery hypoplasia, Tricuspid atresia, Dextrocardia, Double outlet right ventricle, Hypo... ORPHA:185
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Short neck, Intrauterine growth retardation, Protruding tongue, Patent ductus arteri... OMIM:612938
Diprosopus
Non-midline cleft lip, Anencephaly, External ear malformation, Cleft palate, Abnormal cardiac sep... ORPHA:1681
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Left ventricular noncompaction, Cryptorchidism, Cerebellar hypoplasia... OMIM:300967
Neu-Laxova Syndrome
Abnormal cortical gyration, Bifid uvula, Pterygium, Trismus, Cerebellar hypoplasia, Everted lower... ORPHA:2671
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Patent ductus arteriosus, Microtia, Micrognathia, Polyhydramnios, Duodenal stenosis, Camptodactyl... ORPHA:2547
Orofaciodigital Syndrome Xiv
Cryptorchidism, Cerebellar hypoplasia, Periventricular heterotopia, Micrognathia, Hamartoma of to... OMIM:615948
Tarp Syndrome
Abnormal corpus callosum morphology, Small earlobe, Abnormal duodenum morphology, Cryptorchidism,... ORPHA:2886
Klippel-Trénaunay Syndrome
Microcytic anemia, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Gastrointestina... ORPHA:90308
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Abnormal placenta morphology, Hepatosplenomegaly, Long philtrum, I... ORPHA:79255
Adams-Oliver Syndrome 6
Esophageal varix, Ventricular septal defect, Truncus arteriosus OMIM:616589
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Agyria, Congenital muscular dystrophy, Cryptorchidism, Cerebellar hypoplasia, Optic nerve hypopla... OMIM:236670
Cerebrofacioarticular Syndrome
Narrow mouth, Dysplastic corpus callosum, Agenesis of corpus callosum, Anal stenosis, Conductive ... ORPHA:314679
Glycine Encephalopathy
Death in infancy, Irritability, Hyperactivity, Aggressive behavior OMIM:605899
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Cupped ear, Atrial septal defect, Micrognathia, Malar flattening, Cleft palate ORPHA:93946
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Protruding ear, Cleft palate, Hearing impairment, Decreased testicular size ORPHA:85273
Platyspondylic Dysplasia, Torrance Type
Genu varum, Low-set ears, Hydrops fetalis, Platyspondyly, Polyhydramnios, Malar flattening, Cleft... ORPHA:85166
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Cryptorchidism, Hydrops fetalis, Hypertrophic cardio... OMIM:618815
6Q16 Microdeletion Syndrome
Low-set ears, Microtia, Abnormal ear morphology, Micrognathia, Retrognathia, Macrocephaly ORPHA:171829
Tetrasomy 5P
Cyanosis, High palate, Short neck, Long philtrum, Low-set ears, Congestive heart failure, Cerebel... ORPHA:3309
Hemifacial Microsomia With Radial Defects
Non-midline cleft lip, Conductive hearing impairment, Atresia of the external auditory canal, Mic... OMIM:141400
Meier-Gorlin Syndrome 1
Genu varum, Cryptorchidism, Microdontia, Atresia of the external auditory canal, Micrognathia, Mi... OMIM:224690
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Bifid uvula, Progressive microcephaly, Cerebellar hypoplasia, Tented upper lip vermilion, Microce... OMIM:618622
Pendred Syndrome
Hypothyroidism, Enlarged vestibular aqueduct, Sensorineural hearing impairment, Hypoplasia of the... ORPHA:705
Oculofaciocardiodental Syndrome
Long philtrum, Flexion contracture of the 2nd toe, Scoliosis, Genu valgum, Cleft palate, Tooth ma... ORPHA:2712
17Q24.2 Microdeletion Syndrome
Short philtrum, Recurrent otitis media, Pineal cyst, Short neck, Otosclerosis, Microtia, Microgna... ORPHA:529962
Turnpenny-Fry Syndrome
Widely spaced teeth, Microdontia, Microcephaly, Mandibular prognathia, Thin upper lip vermilion, ... OMIM:618371
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Low-set ears, Jaundice, Microcephaly, Lissencephaly, Ventricular septal defect, Arthrogryposis mu... OMIM:613404
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Microcephaly, Right aortic arch with mirror image branching OMIM:107500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cerebellar hypoplasia, Microdontia, Widely spaced teeth, Micrognathia, Microcephaly, Death in inf... OMIM:300868
Weiss-Kruszka Syndrome
Horizontal crus of helix, Hypoplasia of the corpus callosum, Cupped ear, Colpocephaly, Agenesis o... OMIM:618619
20Q11.2 Microduplication Syndrome
Sacral dimple, Cryptorchidism, Tented philtrum, Tented upper lip vermilion, Severe intrauterine g... ORPHA:363659
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Long philtrum, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Coar... OMIM:615502
Peters Plus Syndrome
Long philtrum, Abnormal pulmonary vein morphology, Cryptorchidism, Aplasia/Hypoplasia of the corp... ORPHA:709
Postaxial Acrofacial Dysostosis
Cupped ear, Non-midline cleft lip, Conductive hearing impairment, Supernumerary nipple, Microtia,... ORPHA:246
Auriculocondylar Syndrome
Bifid uvula, Question mark ear, Micrognathia, Hamartoma of tongue, Mandibular condyle aplasia, Cl... ORPHA:137888
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Agyria, Cerebellar hypoplasia, Optic nerve hypoplasia, Dandy-Walker malformation, Lissencephaly, ... OMIM:614643
Intellectual Developmental Disorder, Autosomal Recessive 35
Long philtrum, Low-set ears, Everted lower lip vermilion, Microtia, Micrognathia, Malar flattenin... OMIM:615162
Treacher Collins Syndrome 2
Conductive hearing impairment, Microtia, Cleft palate, Micrognathia OMIM:613717
Neuraminidase Deficiency
Cherry red spot of the macula, Vacuolated lymphocytes, Skeletal muscle atrophy, Sensorineural hea... OMIM:256550
Microcephaly 6, Primary, Autosomal Recessive
Microcephaly, Small cerebral cortex, Microtia OMIM:608393
Cri-Du-Chat Syndrome
Premature graying of hair, High palate, Short philtrum, Bifid uvula, Short neck, Low-set ears, Di... OMIM:123450
Mandibulofacial Dysostosis With Alopecia
Cupped ear, Trismus, Low-set ears, Conductive hearing impairment, Everted lower lip vermilion, Mi... OMIM:616367
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Sensorineural hearing impairment, Micrognathia, Malar flattening, Glossoptosis, Cl... ORPHA:166100
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Narrow philtrum, Abnormal palate morphology, Short neck, Long philtrum, Cryptorchidism, Thick low... ORPHA:163654
Branchiooculofacial Syndrome
Cryptorchidism, Micrognathia, Microcephaly, Agenesis of cerebellar vermis, Cleft palate, Short ne... OMIM:113620
Vacterl With Hydrocephalus
Abnormality of the outer ear, Hydrocephalus, Abnormal form of the vertebral bodies, Intrauterine ... ORPHA:3412
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Long philtrum, Low-set ears, Everted lower lip vermilion, Microtia, Micrognathia, Malar flattenin... ORPHA:357175
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Tetralogy of Fallot, Vertebral clefting, Cutis marmorata, Long philtrum, Low-set ears, Velopharyn... OMIM:614701
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Webbed neck, Short neck, Long philtrum, Patent ductus arteriosus, Cryptorchidism, Su... OMIM:141750
Coxoauricular Syndrome
Hip dislocation, Microtia, Hearing impairment OMIM:122780
Hennekam Syndrome
Lymphangioma, Retrognathia, Ascites, Lymphopenia, Narrow mouth, Conductive hearing impairment, Pu... ORPHA:2136
Congenital Myasthenic Syndrome
Dysphagia, Arthrogryposis multiplex congenita, Narrow jaw, Cyanosis, High palate, EMG: myopathic ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Dysphagia, Arthrogryposis multiplex congenita, Narrow jaw, Cyanosis, High palate, EMG: myopathic ... ORPHA:98914
Sener Syndrome
High palate, Patent ductus arteriosus, Hypodontia, Microtia, Natal tooth, Anteriorly placed anus,... OMIM:606156
Catel-Manzke Syndrome
Overriding aorta, High palate, Short neck, Intrauterine growth retardation, Cleft upper lip, Low-... OMIM:616145
Femoral-Facial Syndrome
Missing ribs, Long philtrum, Cryptorchidism, Micrognathia, Scoliosis, Ventricular septal defect, ... OMIM:134780
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Hypoplasia of the corpus callosum, Kyphosis, Mitral regurgitation, Skeletal m... OMIM:603387
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Bifid uvula, Cleft upper lip, Macrocytic anemia, Patent ductus arteriosus, A... OMIM:612561
Microphthalmia, Syndromic 2
Hypothyroidism, Bifid uvula, Long philtrum, Cryptorchidism, Radiculomegaly, Dextrocardia, Double ... OMIM:300166
Boomerang Dysplasia
Cryptorchidism, Hydrops fetalis, Polyhydramnios, Aplasia/Hypoplasia of the abdominal wall muscula... ORPHA:1263
Blomstrand Lethal Chondrodysplasia
Long philtrum, Low-set ears, Short ribs, Hydrops fetalis, Coarctation of aorta, Platyspondyly, Na... ORPHA:50945
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Horizontal ribs, Absent gallbladder, Tetralogy of Fallot,... OMIM:617925
Rubinstein-Taybi Syndrome 1
Cryptorchidism, Micrognathia, Microcephaly, Scoliosis, Patellar dislocation, Ventricular septal d... OMIM:180849
Abruzzo-Erickson Syndrome
Cleft palate, Macrotia, Hearing impairment, Protruding ear OMIM:302905
Craniofacioskeletal Syndrome
Short philtrum, Absent gallbladder, Hypoplastic frontal sinuses, Intrauterine growth retardation,... OMIM:300712
Hydrolethalus
Bifid uvula, Agenesis of corpus callosum, Low-set ears, Cryptorchidism, Absent septum pellucidum,... ORPHA:2189
Auriculocondylar Syndrome 3
Bifid uvula, Question mark ear, Micrognathia, Glossoptosis, Retrognathia, Bilateral conductive he... OMIM:615706
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Hypoplastic hippocampus, Nonimmune hydrops fetalis, Abnormal cerebral w... ORPHA:477774
Lymphatic Malformation 6
Intestinal lymphangiectasia, Hypothyroidism, Micrognathia, Scoliosis, Ascites, Nonimmune hydrops ... OMIM:616843
Amish Lethal Microcephaly
Agenesis of corpus callosum, Cleft soft palate, Limb hypertonia, Hepatomegaly, Micrognathia, Decr... ORPHA:99742
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Abnormality of the outer ear, Recurrent otitis media, Intrauterine growth retardation, Cryptorchi... ORPHA:2728
Split-Foot Deformity With Mandibulofacial Dysostosis
Malar flattening, Cleft palate, Micrognathia OMIM:183700
Phocomelia, Schinzel Type
Short neck, Intrauterine growth retardation, Cryptorchidism, Hydrops fetalis, Tracheoesophageal f... ORPHA:2879
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Craniosynostosis, Short neck, Low-set ears, Thoracolumbar scoliosis, Tented upper lip vermilion, ... OMIM:616723
1P36 Deletion Syndrome
Hypothyroidism, Long philtrum, Cryptorchidism, 11 pairs of ribs, Microcephaly, Bifid ribs, Scolio... ORPHA:1606
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Sensorineural hearing impairment, Microcephaly, Cleft palate, Periventricular white ... OMIM:618768
Fraser Syndrome 1
Abnormal cortical gyration, Cryptorchidism, Atresia of the external auditory canal, Abnormality o... OMIM:219000
Cardiofaciocutaneous Syndrome 1
Open bite, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Scoliosis, Anterior creases o... OMIM:115150
8Q22.1 Microdeletion Syndrome
Craniosynostosis, Short neck, Long philtrum, Underfolded helix, Low-set ears, Cryptorchidism, Cam... ORPHA:178303
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Gastroesophageal reflux, Microtia, Postnatal macrocephaly, Periventricular white matter hyperinte... OMIM:618158
Mandibulofacial Dysostosis, Guion-Almeida Type
Progressive microcephaly, Low-set ears, Atrial septal defect, Conductive hearing impairment, Deep... OMIM:610536
Dubowitz Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Rectal prolapse, Microce... ORPHA:235
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Macrotia, Micrognathia, Cleft palate OMIM:221950
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced radioactive iodine uptake, Increased circulating prolactin concentration, Decreased circu... ORPHA:99832
Distal Monosomy 15Q
Cryptorchidism, Micrognathia, Microcephaly, Hypoplastic left heart, Mitral stenosis, Thin upper l... ORPHA:1596
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia, Jaundice, Macroglossia ORPHA:95720
Permanent Congenital Hypothyroidism
Hypothyroidism, Thyroid dysgenesis, Jaundice, Macroglossia, Goiter, Umbilical hernia ORPHA:226292
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Narrow mouth, Intestinal lymphangiectasia, Microtia, Pulmonary lymphangiectasia, Lymphedema, Irre... OMIM:616006
Meier-Gorlin Syndrome 7
Narrow mouth, High palate, Complete atrioventricular canal defect, Craniosynostosis, Progressive ... OMIM:617063
Burn-Mckeown Syndrome
Narrow mouth, Short philtrum, Bifid uvula, Cleft upper lip, Atrial septal defect, Conductive hear... OMIM:608572
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Micrognathia, Submucous cleft hard palate, Mandibular prognathia, Retrognathia, Clef... ORPHA:2521
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Total anomalous pulmonary venous return, Cerebellar hypoplasia, Dextrocardia, Do... OMIM:306955
Autosomal Recessive Centronuclear Myopathy
Narrow mouth, High palate, Bifid uvula, Left ventricular hypertrophy, Scapular winging, Abnormal ... ORPHA:169186
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
High palate, Mixed hearing impairment, Bifid uvula, Short neck, Cupped ear, Patent ductus arterio... OMIM:300472
Fontaine Progeroid Syndrome
Long philtrum, Prematurely aged appearance, Cryptorchidism, Cerebellar hypoplasia, Periventricula... OMIM:612289
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothyroidism, Bradycardia, Thyroid agenesis, Congenital hypothyroidism, Macroglossia, Elevated ... OMIM:218700
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Biparietal narrowing, Polycystic ovaries, Non-midline cleft lip, Abnormality of the philtrum, Atr... ORPHA:1770
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Craniosynostosis, Short neck, Intrauterine growth retardation, Cyanotic episode, Ankle flexion co... ORPHA:284417
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Reduced ejection fraction, Lower limb muscle weakness, P... ORPHA:268
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Hydrocephalus OMIM:619470
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Loeys-Dietz Syndrome 5
Bifid uvula, Tented upper lip vermilion, Ventricular septal defect, Retrognathia, Mitral regurgit... OMIM:615582
Camptodactyly Syndrome, Guadalajara, Type I
Long neck, Bifid uvula, Small earlobe, Abnormality of dental eruption, Microcephaly, Twelfth rib ... OMIM:211910
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Webbed neck, Low-set ears, Tracheoesophageal fistula, Muscular ventricular s... OMIM:619227
Desmosterolosis
Abnormal cortical gyration, Bifid uvula, Micrognathia, Microcephaly, Lissencephaly, Macrogyria, R... ORPHA:35107
Meier-Gorlin Syndrome 5
Long philtrum, Intrauterine growth retardation, Small earlobe, Cryptorchidism, Low-set ears, Gast... OMIM:613805
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Cyanosis, Bruising susceptibility, Splenic rupture, Gingival bleeding, ... ORPHA:335
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrauterine growth retardation, Abnormal helix morphology, Cryptorchidism, Optic nerve dysplasia... OMIM:214110
Proximal 16P11.2 Microduplication Syndrome
Microtia, Congenital diaphragmatic hernia, Microcephaly, Scoliosis, Smooth philtrum, Abnormal bas... ORPHA:370079
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Fetal Parvovirus Syndrome
Intrauterine growth retardation, Hydrops fetalis, Hypertrophic cardiomyopathy, Anemia, Increased ... ORPHA:295
Trisomy 20P
Cryptorchidism, Everted lower lip vermilion, Microdontia, Micrognathia, Scoliosis, Spina bifida, ... ORPHA:261318
Intellectual Developmental Disorder, Autosomal Dominant 1
Abnormality of the outer ear, Cupped ear, Low-set ears, Open mouth, Widely spaced teeth, Microtia... OMIM:156200
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior OMIM:604317
Esophageal Atresia
Gastrointestinal dysmotility, Excessive salivation, Anorectal anomaly, Scoliosis, Ventricular sep... ORPHA:1199
Cardiofaciocutaneous Syndrome
Long philtrum, Cryptorchidism, Scoliosis, Hypoplasia of the zygomatic bone, Macrocephaly, Thicken... ORPHA:1340
Cousin Syndrome
Microtia, first degree, Prominent protruding coccyx, Dislocated radial head, Anterior rounding of... OMIM:260660
Cleft Velum
Recurrent otitis media, Velopharyngeal insufficiency, Cleft soft palate, Conductive hearing impai... ORPHA:99772
Cog1-Cdg
Irregularity of vertebral bodies, Long philtrum, Progressive microcephaly, Micrognathia, Posterio... ORPHA:263508
Blackfan-Diamond Anemia
Micrognathia, Microcephaly, Ventricular septal defect, Persistence of hemoglobin F, Thrombocytope... ORPHA:124
Peters-Plus Syndrome
Long philtrum, Diastasis recti, Cryptorchidism, Widely spaced teeth, Exaggerated cupid's bow, Mic... OMIM:261540
White-Sutton Syndrome
Abnormality of the outer ear, Bifid uvula, Optic nerve hypoplasia, Micrognathia, Microcephaly, Ma... OMIM:616364
Diamond-Blackfan Anemia 10
Supernumerary ribs, Patent ductus arteriosus, Low-set ears, Steroid-responsive anemia, Conductive... OMIM:613309
Ohdo Syndrome
Narrow mouth, Long philtrum, Cryptorchidism, Hearing impairment, Widely spaced teeth, Microtia, H... OMIM:249620
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cardiac arrest, Diabetes insipidus, Bile duct proliferation, Left-to-right shunt, Everted lower l... OMIM:619534
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Pterygium, Abnormal form of the vertebral bodies, Polycystic ovaries, Arthritis, Atrial septal de... ORPHA:371428
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Pseudohypoparathyroidism, Short neck, Long philtrum, Patellar hypoplasia, Cryptorchidism, Sensori... ORPHA:464288
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Hypoplasia of the ear cartilage, Atrial septal defect, Low-set, posteriorly rotated ... ORPHA:1035
Branchiootic Syndrome 3
Branchial cyst, Sensorineural hearing impairment OMIM:608389
Meier-Gorlin Syndrome 6
Cryptorchidism, Conductive hearing impairment, Gastroesophageal reflux, Microtia, Decreased respo... OMIM:616835
20Q13.33 Microdeletion Syndrome
Hematochezia, Sacral dimple, Facial hypotonia, Atrial septal defect, Prominent crus of helix, Oli... ORPHA:261311
Noonan Syndrome 7
Large earlobe, Webbed neck, Impaired oropharyngeal swallow response, Short neck, Low-set ears, At... OMIM:613706
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Radioulnar dislocation, Hearing impairment, Dislocated radial head, Beaking of verte... ORPHA:93359
Dysplastic Cortical Hyperostosis
Hydrops fetalis, Splenomegaly, Hepatomegaly, Microcephaly, Polyhydramnios, Abnormality of neurona... ORPHA:2204
Acrofacial Dysostosis, Rodríguez Type
Intrauterine growth retardation, Abnormal form of the vertebral bodies, Microtia, Radioulnar syno... ORPHA:1788
Fanconi Anemia, Complementation Group B
Hypoplasia of the corpus callosum, Short neck, Intrauterine growth retardation, Patent ductus art... OMIM:300514
Orofaciodigital Syndrome Type 4
Abnormality of the outer ear, Genu varum, Primary adrenal insufficiency, Bifid uvula, Abnormality... ORPHA:2753
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short philtrum, Absent gallbladder, Patent ductus arteriosus, Cryptorchidism, Atrial septal defec... ORPHA:163979
Apert Syndrome
Hydrocephalus, Ectopic anus, Bifid uvula, Delayed eruption of teeth, Agenesis of corpus callosum,... ORPHA:87
Short Stature-Obesity Syndrome
Microtia, Micrognathia OMIM:269870
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the outer ear, Congenital conductive hearing impairment, Conductive hearing impair... OMIM:128980
Yunis-Varon Syndrome
Small earlobe, Cryptorchidism, Cerebellar hypoplasia, Micrognathia, Microcephaly, Ventricular sep... OMIM:216340
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Cerebral atrophy, Hypoplasia of the corpus callosum, Pancytopenia, In... OMIM:614576
Mucopolysaccharidosis, Type Ivb
Intimal thickening in the coronary arteries, Kyphosis, Ovoid vertebral bodies, Cervical subluxati... OMIM:253010
Aymé-Gripp Syndrome
Long philtrum, Cryptorchidism, Scoliosis, Thin upper lip vermilion, Cleft palate, Narrow mouth, S... ORPHA:1272
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hypertension, Calcification of the auricular cartilage, Ve... ORPHA:51608
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Recurrent otitis media, Small earlobe, Microcephaly, Anemia, Mandibular progna... ORPHA:99843
Zttk Syndrome
Dysplastic corpus callosum, Bifid uvula, Cerebellar hypoplasia, Scoliosis, Intestinal atresia, Ve... OMIM:617140
Primary Pulmonary Hypoplasia
Cyanosis, Intrauterine growth retardation, Low-set ears, Abnormal hemidiaphragm morphology, Patel... ORPHA:2257
Treacher Collins Syndrome 1
Narrow mouth, Cryptorchidism, Cleft soft palate, Conductive hearing impairment, Atresia of the ex... OMIM:154500
Opitz gbbb syndrome, type II
Bifid uvula, Diastasis recti, Cryptorchidism, Micrognathia, Ventricular septal defect, Dysphagia,... OMIM:145410
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Short philtrum, Ectopic anus, Malar flattening, Ventricular septal defect, Mandibular prognathia,... ORPHA:94066
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Narrow mouth, Long philtrum, Low-set ears, Everted lower lip vermilion, Microtia, Microcephaly, P... OMIM:618089
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial flutter, Patent ductus arteriosus, Atrial septal defect, Oligohydramnios... OMIM:601927
Hyperphosphatasia-Intellectual Disability Syndrome
High palate, Short philtrum, Bifid uvula, Short neck, Cupped ear, Decreased head circumference, I... ORPHA:247262
Kagami-Ogata Syndrome
Webbed neck, Hepatoblastoma, Short neck, Diastasis recti, Coat hanger sign of ribs, Microtia, Mic... ORPHA:254519
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 level, Th... OMIM:301035
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Sinus tachycardia, Microcephaly, Atrial fibrillation, Hyperte... ORPHA:525731
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal palate morphology, Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, ... ORPHA:3236
Meier-Gorlin Syndrome 4
Narrow mouth, Intrauterine growth retardation, Low-set ears, Cryptorchidism, Thick lower lip verm... OMIM:613804
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal corpus callosum morphology, Abnormal mitral valve morphology, Papilledema, Macroglossia,... ORPHA:217093
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Kyphosis, Flexion contracture, Thin upper lip vermilion, Thrombocytosis, Nonimmun... OMIM:212065
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Ethmoidal encephalocele, Abnormal corpus callosum morphology, Perisyl... ORPHA:280195
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dysplastic corpus callosum, Cryptorchidism, Cerebellar hypoplasia, Widely spaced teeth, High, nar... ORPHA:466791
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Leukocytosis, Limited neck flexion, Hashimoto thyroiditis, Abnormal autonomic ner... ORPHA:83601
Bamforth-Lazarus Syndrome
Thyroid agenesis, Cleft palate, Retrognathia, Congenital hypothyroidism ORPHA:1226
Postsynaptic Congenital Myasthenic Syndromes
Weakness of the intrinsic hand muscles, Thoracic kyphoscoliosis, High palate, Cyanosis, Abnormali... ORPHA:98913
Rowley-Rosenberg Syndrome
Reduced subcutaneous adipose tissue, Pulmonary arterial hypertension, Hypertension, Right ventric... OMIM:268500
Campomelia, Cumming Type
Cystic hygroma, Pancreatic cysts, Prematurely aged appearance, Hydrops fetalis, Hepatomegaly, Abn... ORPHA:1318
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Long philtrum, Scoliosis, Ventricular septal defect, Thin up... ORPHA:457279
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Cleft upper lip, Sensorineural hearing impairment, Conductive hearing impairment, Lim... OMIM:214300
Distal Monosomy 10Q
Abnormality of the outer ear, Cerebellar hypoplasia, Micrognathia, Microcephaly, Protruding ear, ... ORPHA:96148
Monosomy 9P
Abnormality of the vertebral column, Long philtrum, Cryptorchidism, Atresia of the external audit... ORPHA:261112
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Long philtrum, Flexion contracture, Anterior scalloping of vertebral bodies, Thick lo... OMIM:611717
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Microcephaly, Subdural hemorrhage, Thrombocytopenia, Glossitis, Intrauterin... ORPHA:79282
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Achondrogenesis, Type Ii
Horizontal ribs, Cystic hygroma, Short ribs, Hydrops fetalis, Polyhydramnios, Cleft palate, Edema... OMIM:200610
Brain-Lung-Thyroid Syndrome
Webbed neck, Patent foramen ovale, Agenesis of corpus callosum, Atrial septal defect, Sensorineur... ORPHA:209905
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Microcytic anemia, Cerebral dysmyelination, Hypogonadotropic hypogonadism, Bifid uvula, Moderate ... ORPHA:293967
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Flexion contracture, Skeletal muscle atrophy, Muscle fiber necrosis... OMIM:253700
Heart Defects, Congenital, And Other Congenital Anomalies
Microcephaly, Diabetes mellitus, Ventricular septal defect, Interrupted aortic arch, Cervical rib... OMIM:600001
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Coronal cleft vertebrae, Shoulder dislocation, Long philtrum, Widely spaced teeth, Narrow vertebr... OMIM:143095
Congenital Gerbode Defect
Right atrial enlargement, Left-to-right shunt, Pedal edema, Ventricular septal defect, Holosystol... ORPHA:99095
Mucopolysaccharidosis Type 2, Severe Form
Abnormal mitral valve morphology, Papilledema, Macroglossia, Spinal canal stenosis, Hypertension,... ORPHA:217085
Seckel Syndrome 7
Intrauterine growth retardation, Central hypothyroidism, Microtia, Madelung deformity, Microcepha... OMIM:614851
Tetrasomy 9P
Amelogenesis imperfecta, Bifid uvula, Missing ribs, Cryptorchidism, Abnormal mitral valve morphol... ORPHA:3310
Tetraploidy
Biparietal narrowing, Short philtrum, Hypoplasia of the ear cartilage, Intrauterine growth retard... ORPHA:3305
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Submucous cleft soft palate, Short neck, Intrauterine growth retardation, Patent ductus arteriosu... ORPHA:2282
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis, Death in infancy, Primary microcephaly OMIM:619340
Galloway-Mowat Syndrome
Hiatus hernia, Hypoplasia of the ear cartilage, Intrauterine growth retardation, Camptodactyly of... ORPHA:2065
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Narrow mouth, High palate, Short philtrum, Bifid uvula, Recurrent otitis media, Intrauterine grow... ORPHA:96184
Kniest-Like Dysplasia, Lethal
Narrow mouth, Coronal cleft vertebrae, Short neck, Hypoplastic vertebral bodies, Patent ductus ar... OMIM:245190
Mucopolysaccharidosis Type 7
Short neck, Anterior beaking of lumbar vertebrae, Anterior beaking of lower thoracic vertebrae, H... ORPHA:584
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior OMIM:239500
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia, Congenital hypothyroidism, Macroglossia, Decreased circulating T4 level, Prolonged n... ORPHA:226313
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Morphological abnormality of the gastrointestinal tract, Bifid uvula, Kyphosis, Long philtrum, Lo... ORPHA:404440
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Cardiomyopathy, Ventricular septal defect, Premature birth... ORPHA:1909
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Leukopenia, Monocytosis, Patent ductus arteriosus, Atrial septal defect, Cryptorchid... OMIM:612541
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Esophagitis, Rectovaginal fistula, Intestinal malrotation, Tracheoeso... ORPHA:2538
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis, Adrenal hypoplasia OMIM:613124
Microtia, Hearing Impairment, And Cleft Palate
Microtia, Overfolded helix, Increased incisura length, Mixed hearing impairment, Cleft palate OMIM:612290
Atelosteogenesis, Type Ii
Coronal cleft vertebrae, Cervical kyphosis, Short neck, Platyspondyly, Horizontal sacrum, Microgn... OMIM:256050
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Short neck, Agenesis of corpus callosum, Low-set ears, Platyspondyly, Micrognathi... ORPHA:93267
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
High palate, Cupped ear, Short neck, Low-set ears, Patent ductus arteriosus, Sensorineural hearin... ORPHA:52055
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Walker-Warburg Syndrome
Abnormal cortical gyration, Bifid uvula, Cryptorchidism, Cerebellar hypoplasia, Microcephaly, Dan... ORPHA:899
Schilbach-Rott Syndrome
Narrow mouth, Bifid uvula, Microtia, Micrognathia, Submucous cleft hard palate, Microcephaly, Pos... OMIM:164220
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Craniosynostosis, Low-set ears, Widely spaced teeth, Microtia, Everted upper lip vermilion, Macro... OMIM:619056
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Recurrent otitis media, Long philtrum, Oligodontia, Microtia, Micrognathia, Posteriorly rotated e... OMIM:602562
Lennox-Gastaut Syndrome
Hyperactivity, Mental deterioration, Aggressive behavior ORPHA:2382
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Primary adrenal insufficiency, Female hypo... OMIM:240300
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cryptorchidism, Patellar dislocation, Otitis media, Ventricular septal defect, Patent ductus arte... ORPHA:353281
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, Cervical kyphosis, Vertebral hypoplasia, Coronal cleft verte... ORPHA:79345
Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation
Narrow mouth, Cerebral atrophy, Long philtrum, Low-set ears, Cryptorchidism, Microtia, Scoliosis,... OMIM:601353
Alstrom Syndrome
Dilated cardiomyopathy, Hypothyroidism, Kyphosis, Diabetes insipidus, Hyperinsulinemia, Congestiv... OMIM:203800
Mccune-Albright Syndrome
Pancytopenia, Abnormality of the thyroid gland, Ovarian cyst, Increased circulating prolactin con... ORPHA:562
Nager Syndrome
Abnormal palate morphology, Non-midline cleft lip, Atresia of the external auditory canal, Microt... ORPHA:245
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Low-set ears, Atrial septal defect, Double outlet right ventricle, Micrognat... OMIM:220210
Mitochondrial Complex I Deficiency, Nuclear Type 35
Intrauterine growth retardation, Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Card... OMIM:619003
Pendred Syndrome
Vestibular dysfunction, Cochlear malformation, Compensated hypothyroidism, Congenital sensorineur... OMIM:274600
Ear-Patella-Short Stature Syndrome
Abnormality of the outer ear, Bifid uvula, Cryptorchidism, Atresia of the external auditory canal... ORPHA:2554
Bullous Dystrophy, Hereditary Macular Type
Microcephaly, Acrocyanosis, Death in childhood OMIM:302000
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Abnormal left ventricular function, Arrhythmia, Hydrops fetalis, Abnor... ORPHA:45452
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, High-frequency sensorineural hearing impairment, Low-frequ... ORPHA:740
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Short neck, Low-set ears, Atrial septal defect, Hydrops fetalis, Anencephaly, Short ribs, Congeni... OMIM:616546
Phenylketonuria
Anxiety, Hyperactivity, Aggressive behavior, Irritability, Self-mutilation, Attention deficit hyp... OMIM:261600
Proteus-Like Syndrome
Communicating hydrocephalus, Subcutaneous lipoma, Polycystic ovaries, Open bite, Splenomegaly, Ab... ORPHA:2969
Apert Syndrome
Bifid uvula, Cryptorchidism, Cerebellar hypoplasia, Cervical C5/C6 vertebrae fusion, Ventricular ... OMIM:101200
Microphthalmia, Syndromic 8
Cleft upper lip, Cryptorchidism, Widely-spaced maxillary central incisors, Mandibular prognathia,... OMIM:601349
Meacham Syndrome
Accessory spleen, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Death in infan... OMIM:608978
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Conductive hearing impairment, Hypergonadotropic hypo... ORPHA:90646
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Anemia, Congestive heart failure OMIM:236750
Acrofacial Dysostosis, Cincinnati Type
Patent ductus arteriosus, Microtia, Micrognathia, Acetabular dysplasia, Hypoplasia of the maxilla... OMIM:616462
15Q Overgrowth Syndrome
Abnormality of the outer ear, Bifid uvula, Micrognathia, High, narrow palate, Dandy-Walker malfor... ORPHA:314585
Absence Of The Pulmonary Artery
Pedal edema, Atrial fibrillation, Cardiomegaly, Abnormal hemidiaphragm morphology, Pulmonary edem... ORPHA:980
Stickler Syndrome, Type I
Pierre-Robin sequence, Bifid uvula, Kyphosis, Conductive hearing impairment, Sensorineural hearin... OMIM:108300
Combined Oxidative Phosphorylation Deficiency 47
Short neck, Long philtrum, Intrauterine growth retardation, Cryptorchidism, Sensorineural hearing... OMIM:618958
Chromosome 6Q24-Q25 Deletion Syndrome
Long philtrum, Dysplastic tricuspid valve, High, narrow palate, Dysplastic pulmonary valve, Thin ... OMIM:612863
Branchioskeletogenital Syndrome
Bifid uvula, Rootless teeth, Abnormal dentin morphology, Microcephaly, Mandibular prognathia, Lar... ORPHA:1299
Buratti-Harel Syndrome
High palate, Bifid uvula, Low-set ears, Velopharyngeal insufficiency, Cryptorchidism, Atrial sept... OMIM:619314
Meier-Gorlin Syndrome 3
Narrow mouth, Thick vermilion border, Genu varum, Intrauterine growth retardation, Low-set ears, ... OMIM:613803
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia, Micrognathia, Macrocytic anemia OMIM:300946
Microgastria-Limb Reduction Defects Association
Absent gallbladder, Fusion of the left and right thalami, Splenogonadal fusion, Agenesis of corpu... OMIM:156810
Congenital Neuronal Ceroid Lipofuscinosis
Agenesis of corpus callosum, Low-set ears, Cerebellar hypoplasia, Microcephaly, Pachygyria, Aplas... ORPHA:168486
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Webbed neck, Bifid uvula, Bruising susceptibility, Delayed eruption of teeth, Promin... OMIM:612350
Congenital Pulmonary Lymphangiectasia
Cyanosis, Congestive heart failure, Hydrops fetalis, Gastroesophageal reflux, Splenomegaly, Hepat... ORPHA:2414
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior OMIM:309548
Trichohepatoenteric Syndrome 1
Narrow mouth, Tetralogy of Fallot, Bifid uvula, Intrauterine growth retardation, Long philtrum, L... OMIM:222470
Ring Chromosome 12 Syndrome
Webbed neck, Hypothyroidism, Low-set ears, Cryptorchidism, Microtia, High, narrow palate, Microce... ORPHA:1439
Marshall-Smith Syndrome
Premature ventricular contraction, Cerebellar hypoplasia, Microdontia, Scoliosis, Macrogyria, Hyp... OMIM:602535
Trisomy 8Q
High palate, Myelomeningocele, Short neck, Non-midline cleft lip, Cryptorchidism, Everted lower l... ORPHA:1752
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal corpus callosum morphology, Cryptorchidism, Micrognathia, Patellar dislocation, Otitis m... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal corpus callosum morphology, Cryptorchidism, Micrognathia, Patellar dislocation, Otitis m... ORPHA:353277
Hsd10 Disease, Infantile Type
Cyanosis, Cerebral atrophy, Abnormality of the basal ganglia, Gastrointestinal dysmotility, Hyper... ORPHA:391428
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cryptorchidism, Micrognathia, Microcephaly, Scoliosis, Thin upper lip vermilion, Cleft palate, Ce... OMIM:618454
Lowry-Maclean Syndrome
Aplasia/Hypoplasia of the corpus callosum, Widely patent coronal suture, Micrognathia, High, narr... ORPHA:2409
Oligomeganephronia
Branchial cyst, Micrognathia, Pulmonary venous occlusion, Congenital diaphragmatic hernia, Hypert... ORPHA:2260
Cerebrocostomandibular Syndrome
Long philtrum, 11 pairs of ribs, Micrognathia, Microcephaly, Scoliosis, Ventricular septal defect... OMIM:117650
Mucopolysaccharidosis, Type Iva
Kyphosis, Ovoid vertebral bodies, Abnormal heart valve morphology, Cervical subluxation, Hypoplas... OMIM:253000
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii