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Gene: Pdgfra MGI:97530

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Registered for phenotyping at IMPC

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

Gene Summary

Name:
platelet derived growth factor receptor, alpha polypeptide
Synonyms:
Pdgfr-2,  CD140a

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pdgfra mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis OMIM:607685
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... ORPHA:401840
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Recurrent respiratory infections, Total anomalous pulmonary venous return OMIM:106700
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Gait disturbance, Abnormality of extrapyramidal... OMIM:614561
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Diamond-Blackfan Anemia 20
Total anomalous pulmonary venous return OMIM:618313
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... OMIM:614779
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Hi... ORPHA:957
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... OMIM:616749
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... OMIM:208530
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Seizure, Ataxia, Spastic tetraparesis, Cavitating leukodystrophy OMIM:619061
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Gastric Cancer
Stomach cancer, Increased level of L-fucose in urine OMIM:613659
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Seizure, Ataxia OMIM:213000
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Scimitar Syndrome
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... ORPHA:185
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Interlobular septal thickening OMIM:265450
Stxbp1-Related Encephalopathy
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo... ORPHA:599373
Microphthalmia, Syndromic 12
Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium, Pulmonary hy... OMIM:615524
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Meacham Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... OMIM:608978
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi... ORPHA:2476
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Babinski sign, Limb tremor, Difficulty walking, Abnormal myelination, Spas... ORPHA:401820
Myoclonic-Atonic Epilepsy
Delayed CNS myelination, Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-mo... OMIM:616421
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Stroke, Total anomalous pulmonary venous r... ORPHA:494424
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:614100
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Clubbing, ... ORPHA:60033
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Acalvaria
Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Holoprosencephaly ORPHA:945
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion OMIM:234810
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Abnormal thorax morphology, Cleft palate, Upper limb phocomelia, Polydactyly, Abnorma... ORPHA:294975
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia ORPHA:171719
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... ORPHA:860
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Abnormal sa... ORPHA:2345
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dyst... OMIM:618425
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Transient ischemic attack, Bicuspid aortic valve, Coronary sinu... ORPHA:1330
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T... OMIM:211960
Fetal Encasement Syndrome
Omphalocele, Bilateral trilobed lung, Tetralogy of Fallot, Congenital diaphragmatic hernia OMIM:613630
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Short neck, Abnormal fo... ORPHA:2311
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal lung lobation, Anomalous pulmonary veno... ORPHA:1120
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:617831
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... OMIM:601357
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2140
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula, Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the philtrum, Premature birth, Abnormality of the dentition, Ab... ORPHA:3268
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Delayed CNS myelination, Ataxia, Babinski sign, Seizure, Spasticity, Frequent falls, Spastic gait... OMIM:619742
Epilepsy, Progressive Myoclonic 7
Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus OMIM:616187
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Respi... OMIM:600561
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Postural tremor, Involuntary movements, Kinetic tremor, Myoclonus, Atonic seizure OMIM:611092
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis, Anal atresia OMIM:274265
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Fryns Microphthalmia Syndrome
Neural tube defect, Facial cleft, Bilateral cleft lip and palate OMIM:600776
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Overlapping toe, Single transverse palmar crease, Exaggerated cupid's bow, Polyhydramni... ORPHA:254528
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Delayed CNS myelination, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, S... OMIM:300423
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx... ORPHA:2839
Femoral-Facial Syndrome
Thin upper lip vermilion, Short femur, Abnormal rib morphology, Rib fusion, Abnormal fibula morph... ORPHA:1988
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Anteverted nares, Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum ... ORPHA:1797
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Atrial situs ambiguous, Abnormal atrial arrangement, Peribron... ORPHA:244
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Narrow chest, Sca... ORPHA:1327
Unilateral Ocular Duplication
Encephalocele, Median cleft lip, Polyhydramnios, Midline facial cleft, Cleft palate ORPHA:3374
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Greenberg Dysplasia
Micromelia, Beaded ribs, Polyhydramnios, Hydrops fetalis, Tetraphocomelia, Hypoplasia of the calc... OMIM:215140
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, Vertebral fus... OMIM:109400
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... OMIM:613490
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Unsteady gait, Ataxia OMIM:615945
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia, Abnormal myelination ORPHA:401835
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... OMIM:614018
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped... OMIM:156530
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Abnormal lung lobati... ORPHA:3097
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Rocker bottom foot, Short neck, Respiratory insufficiency... OMIM:611890
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Lim... ORPHA:93320
Anophthalmia Plus Syndrome
Spina bifida, Non-midline cleft lip, Facial cleft, Cleft palate, Bilateral cleft lip and palate, ... ORPHA:1104
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Babinski sign, Spastic paraplegia, Abnormal myelination, Spasticity ORPHA:431329
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion OMIM:619462
Acrofacial Dysostosis, Catania Type
Microretrognathia, Finger syndactyly, Inguinal hernia, Short stature, Carious teeth, Pectus excav... ORPHA:1786
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Tricuspid Atresia
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... ORPHA:1209
Becker Nevus Syndrome
Micromelia, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Upper limb asymmetry, Pectus... ORPHA:64755
Neuronal Intestinal Pseudoobstruction
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia ORPHA:99811
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... OMIM:615400
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking OMIM:613608
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Large placenta, Coat hanger sign of ribs, Umbilical hernia, Thoracic hypoplasia ORPHA:254534
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking ORPHA:85292
Schisis Association
Encephalocele, Premature birth, Spina bifida, Micromelia, Anencephaly, Tracheoesophageal fistula,... ORPHA:63862
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia OMIM:617018
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Developmental And Epileptic Encephalopathy 97
Inability to walk, Seizure, Epileptic spasm, Tremor OMIM:619561
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Unilateral hy... OMIM:173800
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Chondrodysplasia, Blomstrand Type
Premature birth, Fetal ascites, Polyhydramnios, Squared iliac bones, Flared metaphysis, Hydrops f... OMIM:215045
Pierre Robin Sequence With Facial And Digital Anomalies
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... OMIM:311895
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Right atrial isomerism, Bilateral trilobed lung, Ventricular septal defect,... OMIM:270100
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Part... OMIM:619657
Achondrogenesis, Type Ib
Polyhydramnios, Edema, Hypoplastic ilia, Breech presentation, Hydrops fetalis, Stillbirth, Short ... OMIM:600972
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Holt-Oram Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... ORPHA:392
Hypophosphatasia
Bowing of the long bones, Abnormality of the dentition, Abnormal rib morphology, Respiratory insu... ORPHA:436
Mosaic Trisomy 9
Polyhydramnios, Short neck, Micrognathia, Hemivertebrae, Hydrops fetalis, Finger clinodactyly, En... ORPHA:99776
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Abnormality of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:601163
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2141
Lethal Congenital Contracture Syndrome 11
Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmonary hypoplasia, Camp... OMIM:617194
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Hydronephrosis, Anal atresia OMIM:235760
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Congenital diaphragmatic hernia, Abnormal heart morphology, Aplasia of the... ORPHA:2847
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Polyhydramnios, Short neck, Micrognathia, Hypoplasia of ... OMIM:213980
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Delayed myelination, Seizure, Myoclonus, Atypical ... OMIM:617391
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:139466
Rudiger Syndrome
Micropenis, Ureterovesical stenosis OMIM:268650
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Autosomal Recessive Spastic Paraplegia Type 69
Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Progressive spastic... ORPHA:401830
Indomethacin Embryofetopathy
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... ORPHA:1909
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... OMIM:609813
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Migraine, Familial Hemiplegic, 1
Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia OMIM:141500
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Spinal rigidity, Respiratory insufficiency due to muscle weakness, Death in adolescence, Respirat... OMIM:300717
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory insufficiency, Respiratory failure, Tongue fascicul... OMIM:253300
Paroxysmal Kinesigenic Dyskinesia
Writer's cramp, Involuntary movements, Chorea, Seizure, Athetosis, Dystonia, Focal sensory seizure ORPHA:98809
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypo... OMIM:612387
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... OMIM:617405
Diaphanospondylodysostosis
Missing ribs, Myelomeningocele, Short thorax, Cleft palate, Narrow pelvis bone, Enlarged thorax ORPHA:66637
Vacterl Association With Hydrocephalus
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Respiratory insufficiency, Re... OMIM:276950
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Pulmonary hypoplasia, Neonatal death, Increased variability in muscle fiber diamete... OMIM:614096
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Upper limb undergrowth, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Developmental And Epileptic Encephalopathy 58
Inability to walk, Delayed myelination, Spastic diplegia, Seizure, Status epilepticus OMIM:617830
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation OMIM:600195
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short stature, Short nec... OMIM:613686
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... OMIM:617927
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... OMIM:601612
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo... OMIM:607317
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Congenital Tricuspid Valve Dysplasia
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... ORPHA:555874
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Infantile Convulsions And Choreoathetosis
Involuntary movements, Focal-onset seizure, Chorea, Choreoathetosis, Seizure, Complex febrile sei... ORPHA:31709
Prune Belly Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Congenital hip dislocation, Recur... ORPHA:2970
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Sandal gap, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Splenomeg... ORPHA:1046
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip OMIM:600251
Acropectoral Syndrome
Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T... OMIM:605967
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Rigidity, Dysmetria, Ga... OMIM:618090
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturbance, Myoclonus, Truncal ataxia... ORPHA:363710
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Seizure, Abnormal CNS myelination, D... ORPHA:477673
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Cerebral dysmyelination, Respiratory insufficiency, Respiratory ... OMIM:611722
Achondrogenesis, Type Ii
Broad long bones, Polyhydramnios, Edema, Short tubular bones of the hand, Hypoplastic iliac wing,... OMIM:200610
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis ORPHA:295
Vesicoureteral Reflux, X-Linked
Vesicoureteral reflux OMIM:314550
Vesicoureteral Reflux 1
Vesicoureteral reflux OMIM:193000
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Seizure, Bradykinesia, Shuf... OMIM:615528
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Cleft palate, Restricti... OMIM:614399
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Postaxial hand polydactyly, Small hand, Facial cleft... ORPHA:952
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... OMIM:612961
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... OMIM:608105
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Sprengel Deformity
Abnormal shoulder morphology, Shoulder muscle hypoplasia, Cleft palate, Abnormality of the should... ORPHA:3181
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... ORPHA:79262
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Ataxia, Poor coordination, Generalized non-motor (absence) seizure, Focal motor... OMIM:617665
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Gait ataxia ORPHA:217012
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Cleft upper lip, High, narrow palate, Facial cleft, Cleft p... OMIM:607597
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta... OMIM:609052
Hyperekplexia 4
Kyphoscoliosis, Respiratory failure, High palate, Camptodactyly, Umbilical hernia, Adducted thumb OMIM:618011
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity OMIM:616494
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-... ORPHA:36387
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Tented upper lip vermilion, Single transverse palmar crease, Polyhydramnios, Deep philtrum, Tibia... ORPHA:96334
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ... OMIM:615362
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Narrow femoral neck, Congenital hip dislocation, Delayed phalangeal epiphyseal ossification, Long... OMIM:603546
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Inability to walk... ORPHA:330050
Cerebrofaciothoracic Dysplasia
Wide nose, Short stature, Polyhydramnios, Short neck, Hemivertebrae, Rib fusion, Sprengel anomaly... ORPHA:1394
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup... OMIM:617478
Exostoses, Multiple, Type Ii
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... OMIM:133701
Exostoses, Multiple, Type I
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... OMIM:133700
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Akinesia, Postural tremor, Rigidity... OMIM:619911
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor ORPHA:86814
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Pulmonary hypoplasia OMIM:615228
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Glossoptosis, Narrow chest, Short palm, Synostosis of carpal bones, Encepha... ORPHA:90652
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... OMIM:617106
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Anteverted nares, Proximal placement of thumb, Mis... OMIM:304050
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Dystonia, Spasticity OMIM:615924
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Skeletal muscle atrophy, Inguinal hernia, Short stature, Camptodactyly of fing... ORPHA:2990
Infantile Sialic Acid Storage Disease
Premature birth, Cardiomegaly, Hydrocephalus, Gingival overgrowth, Hydrops fetalis, High palate, ... OMIM:269920
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... OMIM:265000
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Facial cleft, Short... OMIM:239800
Arthrogryposis, Distal, Type 1C
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... OMIM:619110
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involuntary movements, Or... ORPHA:454887
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... OMIM:115470
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Fibrochondrogenesis 1
Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent... OMIM:228520
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Fountain Syndrome
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Craniofacial hyperost... ORPHA:3219
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor... OMIM:277300
Mosaic Trisomy 16
Syndactyly, Premature birth, Single transverse palmar crease, Large placenta, Short thumb, Abnorm... ORPHA:1708
Czeizel-Losonci Syndrome
Thickened nuchal skin fold, Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myel... ORPHA:2437
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Dystonia, Generalized myo... OMIM:617836
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... ORPHA:93323
Developmental And Epileptic Encephalopathy 71
CNS demyelination, Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Jawad Syndrome
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... OMIM:251255
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Seizure, Dysdiadoc... OMIM:213600
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pulmonary artery, Congenital d... ORPHA:1166
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Patent ductus ... ORPHA:99050
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Short neck, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respirator... ORPHA:1832
Oculomaxillofacial Dysostosis
Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormality of the humer... ORPHA:1794
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Pro... OMIM:612736
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... OMIM:265120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Achondrogenesis Type 1A
Thickened nuchal skin fold, Short palm, Multiple rib fractures, Polyhydramnios, Hydrops fetalis, ... ORPHA:93299
Achondrogenesis Type 1B
Thickened nuchal skin fold, Polyhydramnios, Abnormal rib morphology, Hydrops fetalis, Short foot,... ORPHA:93298
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizu... ORPHA:2590
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Polyhydramnios, Lateral clavicle hook, Bell-shaped thorax, Short long bone... OMIM:615633
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... ORPHA:210571
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Arachnodactyly, Aplasia/Hypoplasia of the... ORPHA:2759
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tremor OMIM:601068
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Recurrent respiratory infections, Facial palsy, Centrally nucleated skel... OMIM:255320
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger... OMIM:313420
Disorganization, Mouse, Homolog Of
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication OMIM:223200
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Ventricular septal defect, Fractured radius, Polyhydramnios,... OMIM:616897
Jeune Syndrome
Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Postaxial hand polydactyly, Sh... ORPHA:474
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... ORPHA:2302
Axial Mesodermal Dysplasia Spectrum
Missing ribs, Renal hypoplasia/aplasia, Abnormality of the spleen, Anorectal anomaly, Abnormal ri... ORPHA:1834
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Polyhydramnios, Abnormal carpal morphology, Hydro... ORPHA:85166
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Spinocerebellar Ataxia 23
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, CNS demyelination OMIM:610245
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate OMIM:172880
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Kagami-Ogata Syndrome
Pursed lips, Premature birth, Thoracic hypoplasia, Polyhydramnios, Coxa valga, Large placenta, Be... ORPHA:254519
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia... ORPHA:2973
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Ankle flexion contracture, Flexion contracture, Elbow flexion ... OMIM:617468
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Vertebral segmentation defect, Antevert... OMIM:611209
Loeys-Dietz Syndrome 4
Broad uvula, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Hig... OMIM:614816
Robinow Syndrome, Autosomal Recessive 1
Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... OMIM:268310
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Pulmonary hypoplasia, Neonatal death, Art... OMIM:253310
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... ORPHA:251282
Schneckenbecken Dysplasia
Hypoplastic scapulae, Nonimmune hydrops fetalis, Polyhydramnios, Dumbbell-shaped long bone, Anter... OMIM:269250
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Microcolon, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis OMIM:619362
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia... ORPHA:99125
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Ureteral stenosis, Pneumothorax, Cleft palate, Patellar hypopla... ORPHA:2257
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Broad long bones, Bowing of the legs, Hypoplastic ilia, Hydrocephalus, Hypoplastic... ORPHA:1865
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Arthrogryposis multiplex congenita, Unilateral wrist flexion contracture, Pulmonary hypoplasia, K... OMIM:616531
Developmental And Epileptic Encephalopathy 16
Clonic seizure, Delayed myelination, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of e... OMIM:615338
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Delayed CNS myelination, Bilateral tonic-clonic seizure, Tremor, Spastic paraple... OMIM:612164
Atelosteogenesis, Type Ii
Cervical kyphosis, Short neck, Increased intervertebral space, Death in infancy, Lumbar hyperlord... OMIM:256050
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Seizure, Spastic gait OMIM:600363
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Meckel Syndrome, Type 1
Occipital encephalocele, Lobulated tongue, Syndactyly, Cleft upper lip, Postaxial foot polydactyl... OMIM:249000
Cat-Eye Syndrome
Anal atresia, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Congenital Myopathy 14
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Respi... OMIM:618414
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Tongue fasciculations, Respiratory insufficiency, Death in childhood OMIM:616081
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... ORPHA:397946
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Chromosome 17P13.1 Deletion Syndrome
Proximal placement of thumb, Short neck, Knee flexion contracture, Generalized amyotrophy, Short ... OMIM:613776
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Vesico... ORPHA:107
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... ORPHA:423275
Limb Body Wall Complex
Amniotic constriction ring, Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the... ORPHA:2369
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Polyhydramnios, Dela... OMIM:114290
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid stern... ORPHA:63260
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Cardiomyopathy, Pulmonary hypoplasia OMIM:619003
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... ORPHA:1350
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Intestinal atresia, Single umbilical ... ORPHA:3405
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones... OMIM:614091
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral ... OMIM:611812
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Leukodystrophy, Dystonia, Oculomotor apraxia,... OMIM:612438
Meckel Syndrome, Type 11
Occipital encephalocele, Polydactyly, Oligohydramnios OMIM:615397
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Disproportionate short-trunk short sta... OMIM:608681
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Cleft upper lip, Midline facial cleft, Preaxial polydactyly, Preaxial ... OMIM:603671
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Congenital Tracheomalacia
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... ORPHA:95430
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Upper limb postural tremor, Segmental per... OMIM:180800
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Micrognathia, Ed... OMIM:616038
Atrial Septal Defect, Sinus Venosus Type
Right ventricular dilatation, Stroke, Anomalous pulmonary venous return ORPHA:99105
Tetraamelia Syndrome 2
Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Severe short stature, Missing ribs, Short neck, Hemivertebrae, D... OMIM:122600
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abnormality of the upp... ORPHA:873
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Intestinal malrotation, Megacystis, Hydronephrosis, Microcolon OMIM:619431
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Cleft palate, Radioulnar synostosis, Short middle phalanx of the 4th finger, Ove... OMIM:616738
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking OMIM:615048
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Delayed CNS myelination, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Ch... OMIM:619725
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur... OMIM:617810
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Multifocal seizures, Ataxia, Involuntary movements, Delayed myelination, Choreoathetosis, Status ... OMIM:615905
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Polyhydramnios... ORPHA:1263
Fanconi Anemia, Complementation Group O
Rectal atresia, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydronephrosis, Anal ... OMIM:613390
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Finger syndactyly, Abnormal dental enamel morphology, Spina bifi... ORPHA:2092
Pontocerebellar Hypoplasia, Type 2D
Appendicular spasticity, Clonus, Delayed myelination, Chorea, Spastic tetraplegia, Seizure OMIM:613811
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Nail-Patella Syndrome
Biceps aplasia, Glenoid fossa hypoplasia, Spina bifida, Cleft upper lip, Pectus excavatum, Tricep... OMIM:161200
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Pectus excavatum, Cleft palate, High palate, Clinodac... ORPHA:376
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Endocardial fibroelastosis, Neonatal death OMIM:276822
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis, Intestinal malrotation OMIM:249210
Prune Belly Syndrome
Hydroureter, Xerostomia, Congenital posterior urethral valve, Hydronephrosis, Anal atresia OMIM:100100
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Depressed nasal bridge, Camptodactyly of finger, Severe ... ORPHA:2635
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Renal cell carcinoma, Neoplasm of the stomach OMIM:114500
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Ectopic kidney, Renal hypoplasia/aplasi... ORPHA:93929
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Intestinal malrotation, Missing ribs, Camptodactyly of finger, Diastomatomyelia, Me... ORPHA:1759
Intellectual Developmental Disorder, X-Linked 104
Delayed CNS myelination, Ataxia, Tremor, Seizure, Spasticity OMIM:300983
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dystonia OMIM:261630
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:607734
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... OMIM:183600
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Overlapping fingers, Cardiomegaly, Fetal akinesia se... OMIM:617022
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Caudal Duplication
Omphalocele, Spina bifida, Abnormal sacrum morphology, Myelomeningocele, Bifid sacrum, Spinal cor... ORPHA:1756
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Transient ischemic attack, Pneumonia, Anomalous pulmonary venous return,... ORPHA:99104
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... ORPHA:3104
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure, Limb dystonia, Cra... ORPHA:71517
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Short neck, Spinal rigidity, Kyphosis, Hip dislocation, Respiratory failure, Scoliosis,... ORPHA:75840
Mulibrey Nanism
Dental crowding, Cardiomegaly, Thickened cortex of long bones, Dental malocclusion, Myocardial fi... OMIM:253250
Cerebrocostomandibular Syndrome
Hydranencephaly, Short stature, Ventricular septal defect, Spina bifida, Micrognathia, Tracheomal... ORPHA:1393
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Facial cleft, High palate, Widely spaced teeth, Solitary median maxil... ORPHA:66625
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Delayed myelin... OMIM:616756
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... OMIM:610913
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... OMIM:619343
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... ORPHA:216873
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Orofacial cleft, Pectus carinatum, Downturned corners of mouth, Short... ORPHA:1507
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia OMIM:300887
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Cleft upper lip, Cleft palate, Anhydramnios, Polydactyly,... OMIM:613885
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... OMIM:603194
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Leukodystrophy, Dystonia, Loss of ambulation OMIM:617916
Cartilage-Hair Hypoplasia
Short neck, Heart block, Metaphyseal chondrodysplasia, Depressed nasal ridge, Abnormal form of th... ORPHA:175
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Pyloric stenosis, Hydroureter, Nephrolithiasis OMIM:617219
Spinocerebellar Ataxia 48
Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, G... OMIM:618093
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema OMIM:618307
Iniencephaly
Encephalocele, Omphalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hyperlordosis, Congenit... ORPHA:63259
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Spondylospinal Thoracic Dysostosis
Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:601809
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor OMIM:302500
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, High palate, Hydronephrosis ORPHA:85285
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Demyelinating sensory neuropathy, Ataxia, Tremor, Dysmetria, Gait ataxia, Steppage gait OMIM:618387
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ankle clonus, Bradykin... ORPHA:521406
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation, Camptodactyly of finger ORPHA:2631
Microphthalmia, Syndromic 9
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Agenesis of pulmonar... OMIM:601186
Trisomy 1Q
Toe syndactyly, Ventricular septal defect, Arachnodactyly, Polyhydramnios, Camptodactyly of finge... ORPHA:261344
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Congenital Muscular Dystrophy With Intellectual Disability
Neuropathic spinal arthropathy, Abnormality of the tongue muscle, Hip dislocation, Respiratory in... ORPHA:370968
Fanconi Renotubular Syndrome 5
Genu valgum, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenocarcinoma OMIM:618913
Occipital Horn Syndrome
Short humerus, Pelvic bone exostoses, Broad clavicles, Pectus excavatum, Capitate-hamate fusion, ... OMIM:304150
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Micrognathia, Craniosynostosis, Rib fusion, Abnorm... ORPHA:261197
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Meier-Gorlin Syndrome 1
Respiratory distress, Flat glenoid fossa, Hemivertebrae, Cutaneous finger syndactyly, High palate... OMIM:224690
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Pectus excav... OMIM:258860
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... ORPHA:2306
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Accessory oral frenulum, Hamartoma of tongue, Polyhydramnios, Aplastic clavicle, Hydrocephalus, P... OMIM:616546
Cardiac-Urogenital Syndrome
Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s... OMIM:618280
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... OMIM:620014
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus ORPHA:98763
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Broad-based gait, Postural tremor, Babinski sign, Limb ataxia, Dysmetria, Clumsiness, Seizure, Pr... ORPHA:284324
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Delayed CNS myelination, Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head tituba... OMIM:618877
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Shor... OMIM:135100
Castleman Disease
Abnormality of the gastrointestinal tract, Renal insufficiency, Intestinal obstruction, Generaliz... ORPHA:160
Bladder Exstrophy
Recurrent urinary tract infections, Hypoplasia of penis, Intestinal malrotation, Epispadias, Abno... ORPHA:93930
Nemaline Myopathy 9
Ventricular septal defect, Polyhydramnios, Fetal akinesia sequence, Breech presentation, Cleft pa... OMIM:615731
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly OMIM:615984
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal limb bone morphology, Hydrops fetalis, Polyhydramnios ORPHA:2204
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology ORPHA:3346
Desmosterolosis
Patent ductus arteriosus, Total anomalous pulmonary venous return OMIM:602398
Hydrolethalus Syndrome 2
Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foot polydactyly,... OMIM:614120
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Patent foramen ovale, Flexion contracture... OMIM:616866
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Hydrocephalus, Hydrops fetalis, Oligohydramnios ORPHA:163596
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Congenital diaphragmatic hernia, Flexion contracture, Abnormal lung lobation, Abnorm... OMIM:263210
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Edema of the dorsum of hands, F... OMIM:274000
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Trisomy 18
Congenital diaphragmatic hernia, Holoprosencephaly, Atrial septal defect, Microretrognathia, Shor... ORPHA:3380
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Neon... OMIM:265380
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Missing ribs, Hiatus hernia, Rib fusion, Small han... ORPHA:50
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Dys... OMIM:619028
Trisomy 20P
Finger syndactyly, Inguinal hernia, Anteverted nares, Camptodactyly of finger, Spina bifida, Shor... ORPHA:261318
Constricting Bands, Congenital
Encephalocele, Syndactyly, Omphalocele, Facial cleft, Abnormal rib cage morphology, Hand polydact... OMIM:217100
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Congenital Disorder Of Glycosylation, Type Ik
Abnormality of the amniotic fluid, Cardiomyopathy, Thin vermilion border, Nonimmune hydrops fetalis OMIM:608540
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia, Infantile spasms OMIM:278780
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... ORPHA:199241
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, K... ORPHA:93316
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Edema, Renal cyst, Gastrointestinal inflammation, Dehydration, Aplasia/Hypopl... ORPHA:79404
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Postaxial foot ... OMIM:607361
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Tremor, Babinski sign, Steppage gait, Hyp... OMIM:609260
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Hydrocephalus, Men... ORPHA:1908
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le... OMIM:249710
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... OMIM:253000
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Leukodystrophy, Hypomyelinating, 2
Dystonia, Ataxia, Demyelinating motor neuropathy, Rigidity, Head titubation, Babinski sign, Chore... OMIM:608804
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, High palate OMIM:615398
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Respiratory failure, Tongue fasciculations, Tongue atrophy OMIM:613435
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:2143
Folinic Acid-Responsive Seizures
Broad-based gait, Ataxia, Spastic tetraparesis, Clonic seizure, Delayed myelination, Chorea, Seiz... ORPHA:79097
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Abnormal lung lobation, Stillbirth, Aortic valve sten... OMIM:615415
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Seizure, Ankle clon... ORPHA:363654
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Cleft palate, Short 5th finger, Polydactyly, Small placenta, Ectrodactyly, Clinodacty... ORPHA:397590
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Short neck, Micrognathia, Gener... ORPHA:508498
White Forelock With Malformations
Finger syndactyly, Deep philtrum, Abnormal rib morphology, Clinodactyly of the 5th finger, Spreng... ORPHA:2475
Vacterl With Hydrocephalus
Absence of the sacrum, Inguinal hernia, Femoral hernia, Spina bifida, Micrognathia, Aqueductal st... ORPHA:3412
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, General... ORPHA:2790
Waardenburg Syndrome Type 1
Mandibular prognathia, Spina bifida, Underdeveloped nasal alae, Meningocele, Wide nasal bridge, S... ORPHA:894
Pallister-Hall Syndrome
Hemivertebrae, Holoprosencephaly, Neonatal death, Syndactyly, Mesoaxial foot polydactyly, Antever... OMIM:146510
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma... OMIM:300048
Achondrogenesis
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis, Long philtrum, Umbilical hernia ORPHA:932
Trisomy 13
Median cleft lip, Ventricular septal defect, Abnormality of the dentition, High, narrow palate, P... ORPHA:3378
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Status epilepticus, Spasticity, Intent... OMIM:614307
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger ORPHA:1937
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora... OMIM:304120
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Neuropathy, Congenital Hypomyelinating, 3
2-3 toe syndactyly, Respiratory insufficiency, CNS hypomyelination, Narrow palate, Gingival overg... OMIM:618186
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Ascites, Hydrops fetalis, Pulmonic stenosis OMIM:619433
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Abnormality of the upper urinary tract, Abnormality of the urethra, Split hand... ORPHA:2145
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Transposition of the great arteries... OMIM:313850
X-Linked Charcot-Marie-Tooth Disease Type 3
Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spastic paraparesis, Demyelinati... ORPHA:101077
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Melnick-Needles Syndrome
Short humerus, Recurrent respiratory infections, Hypoplastic scapulae, Ureteral stenosis, Coxa va... OMIM:309350
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Parachute mitr... OMIM:618316
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Cleft hard palate, Delayed epiphyseal ossification, Fragment... ORPHA:166016
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... DECIPHER:46
Isolated Hemihyperplasia
Myelomeningocele, Asymmetry of the thorax, Abnormality of the dentition ORPHA:2128
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Pulmonary hypoplasia, Transposition of the great arteries, Neonatal death, Atrioven... OMIM:314390
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary hypoplasia OMIM:245650
Frontofacionasal Dysplasia
Encephalocele, Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Depressed... ORPHA:1791
Diastrophic Dysplasia
Hip contracture, Spinal cord compression, Costal cartilage calcification, Flattened epiphysis, Ul... OMIM:222600
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Nonimmune hydrops fetalis, Craniosynostosis, Cleft palate, Thin ribs, Slender long bone, Brachyda... OMIM:618265
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, CNS hypomyelination, Seizure, Leukodys... OMIM:607694
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Duodenal stenosis, Abno... ORPHA:2547
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Femoral bowing, Pectus carinatum, Foot oligodactyly, High palate, Aplasia/Hypoplasia of the tarsa... OMIM:276820
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala... ORPHA:1506
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hydrops fetalis, Fetal akinesia sequence OMIM:618815
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... ORPHA:33069
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Congenital Heart Block
Premature birth, Pericardial effusion, Hydrops fetalis, Peripheral edema, Vaginal birth after Cae... ORPHA:60041
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Congenital Myopathy 17
Ureteropelvic junction obstruction, Overlapping toe, Polyhydramnios, Tapered finger, Pectus excav... OMIM:618975
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Babinski sign, Abnormal pyramidal sign, CNS hypomyelination, Seizure, Leukody... OMIM:610532
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Cleft p... OMIM:614815
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Split hand, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
X-Linked Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospa... ORPHA:53351
Restrictive Dermopathy
Natal tooth, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Premature birth, Campt... ORPHA:1662
Orofaciodigital Syndrome Xv
Lobulated tongue, Hydronephrosis OMIM:617127
Orofaciodigital Syndrome Viii
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia OMIM:300484
Isolated Anencephaly
Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Seizure, Ataxia OMIM:618951
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Seizure, Delayed myelination, Unsteady gait, Gait ataxia OMIM:618158
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:300978
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:380
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Long toe, Arachnodactyly, Cleft lip, Cleft palate, Large hands, Thoracic kyphosis OMIM:300263
Hallermann-Streiff Syndrome
Micrognathia, Metaphyseal widening, Spina bifida, Hyperlordosis, Supernumerary tooth, Scoliosis, ... OMIM:234100
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... ORPHA:1041
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short thorax, ... OMIM:617102
46,Xy Sex Reversal 4
Cleft palate, Hydronephrosis, High palate, Ureteropelvic junction obstruction, Renal dysplasia, A... OMIM:154230
Chops Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Aspiratio... OMIM:616368
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Polyhydramnios, Protruding tongue, ... OMIM:200600
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Interstitial emphysema, Bronchiectasis, CNS hypomyelination, Inflammation of the large ... OMIM:619708
Null Syndrome
Ataxia, Inability to walk, CNS hypomyelination, Progressive spastic quadriplegia, Difficulty walk... ORPHA:280234
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Hydrocephalus, Hydrops ... ORPHA:268249
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Missing ribs, Ectopic kidney, Abnormal... ORPHA:3027
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Sandal gap, Delayed myelination, Patellar aplasia, Tracheobronc... OMIM:616835
Campomelia, Cumming Type
Brachydactyly, Bowing of the long bones, Lymphedema, Abnormal rib morphology, Hydrops fetalis, Cl... ORPHA:1318
Frontonasal Dysplasia 3
Facial cleft, Cleft palate OMIM:613456
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,... OMIM:617145
Carpenter Syndrome
Finger syndactyly, Syndactyly, Toe syndactyly, Postaxial hand polydactyly, Preaxial foot polydact... ORPHA:65759
Robinow Syndrome
Micrognathia, Hemivertebrae, Atrial septal defect, Fused thoracic vertebrae, Syndactyly, Antevert... ORPHA:97360
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... OMIM:612016
Frontometaphyseal Dysplasia
Metaphyseal widening, Short metatarsal, Sprengel anomaly, Spina bifida occulta, Short phalanx of ... ORPHA:1826
Glycogen Storage Disease Iv
Decreased fetal movement, Polyhydramnios, Edema, Esophageal varix, Hydrops fetalis, Cardiomyopath... OMIM:232500
Acrocallosal Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:36
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Increased connective tissue, Flexion contracture, Facial d... ORPHA:171430
Pentalogy Of Cantrell
Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic... ORPHA:1335
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hydronephrosis, Hem... ORPHA:79403
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Depressed nasal ridge, Clinodactyly of the 5th finger, Atrial septal defec... OMIM:607872
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ... OMIM:613091
Diabetic Embryopathy
Ventricular septal defect, Micrognathia, Hydrocephalus, Abnormal sacrum morphology, Aplasia/Hypop... ORPHA:1926
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Upper motor n... ORPHA:276435
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoclonus, Dystonia ORPHA:139485
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy, Hydrops fetalis, Edema ORPHA:101028
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of ... OMIM:253010
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Trichohepatoenteric Syndrome 1
Villous atrophy, Polyhydramnios, Avascular necrosis of the capital femoral epiphysis, Large place... OMIM:222470
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... OMIM:611561
Infantile Neuronal Ceroid Lipofuscinosis
Generalized-onset seizure, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fin... ORPHA:79263
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... OMIM:619751
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Choanal stenosis, Spina bifida occulta... OMIM:218600
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Adducted thumb OMIM:619334
Sirenomelia
Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia of the radius, Anal atresia ORPHA:3169
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gai... ORPHA:93952
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger sy... OMIM:235510
Neu-Laxova Syndrome
Osteopenia, Skeletal muscle atrophy, Osteomalacia, Spina bifida, Micrognathia, Polyhydramnios, Tr... ORPHA:2671
Meier-Gorlin Syndrome 4
Patellar aplasia, Thick lower lip vermilion, Slender long bone, Narrow mouth, Emphysema OMIM:613804
Dextrocardia
Congenital hip dislocation, Intestinal malrotation, Abnormality of the spleen, Abnormal renal mor... ORPHA:1666
Cardiomyopathy, Familial Hypertrophic, 27
Pterygium, Nonimmune hydrops fetalis, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventr... OMIM:618052
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Lymphedema, Hydrops fetali... OMIM:601927
1P36 Deletion Syndrome
Depressed nasal ridge, Clinodactyly of the 5th finger, Depressed nasal bridge, Short stature, Pat... ORPHA:1606
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... ORPHA:240094
Aase-Smith Syndrome
Camptodactyly of finger, Cleft palate, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abn... ORPHA:916
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap... OMIM:608728
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Spinal rigidity OMIM:604801
Orofaciodigital Syndrome Type 5
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... ORPHA:2919
Adducted Thumbs Syndrome
Cerebral dysmyelination, High, narrow palate, Velopharyngeal insufficiency, Respiratory insuffici... OMIM:201550
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Seizure, Dysd... OMIM:614831
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Kyphosis, ... ORPHA:1354
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Pallister-Hall-Like Syndrome
Occipital encephalocele, Toe syndactyly, Median cleft lip, Micromelia, Hydrocephalus, Postaxial h... OMIM:241800
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Lymphadenitis, Sterile pyur... ORPHA:449395
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased number of peripheral myelinated nerve fibers, Incoordination, Tremor, Paraparesis, Babi... OMIM:302800
Ferguson-Bonni Neurodevelopmental Syndrome
Patent foramen ovale, Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia OMIM:619699
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Ventricular sept... ORPHA:93267
Congenital Myopathy 19
Renal atrophy, High palate, Hydronephrosis, Dysphagia OMIM:618578
Cooper-Jabs Syndrome
Umbilical hernia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he... ORPHA:1488
Mitochondrial Complex I Deficiency, Nuclear Type 19
Rigidity, Inability to walk, Delayed myelination, Seizure, Athetosis, Gait disturbance, Myoclonus... OMIM:618241
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture, Pulmonary hypoplasia OMIM:616733
Meckel Syndrome, Type 10
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... OMIM:614175
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology ORPHA:281090
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Broad palm... ORPHA:93351
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... ORPHA:79126
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Aplasia/Hypoplasia of the lungs, Inguinal hernia, Abnormal lung lobation, Congenital diaphragmati... ORPHA:2063
Teebi-Shaltout Syndrome
Syndactyly, Ureteral stenosis, Rocker bottom foot, Pectus excavatum, Metatarsus adductus, High, n... OMIM:272950
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Fetal Gaucher Disease
Decreased fetal movement, Fetal akinesia sequence, Hydrops fetalis, Stillbirth, High palate, Neon... ORPHA:85212
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... ORPHA:980
Restrictive Dermopathy 1
Natal tooth, Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Ro... OMIM:275210
Sialidosis Type 2
Umbilical hernia, Ascites, Hydrops fetalis, Pedal edema ORPHA:87876
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ... OMIM:615779
Cln5 Disease
Generalized-onset seizure, Ataxia, Abnormal central motor function, Tremor, Focal-onset seizure, ... ORPHA:228360
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Peripheral demyelination, Myelitis ORPHA:71211
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Sacral dimple, Congenital hip dislocation, Femur fracture, Respiratory insufficien... OMIM:618291
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the... OMIM:609616
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Babinski sign, Vestibular areflexia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... ORPHA:504476
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... OMIM:616710
Cleidocranial Dysplasia
Mandibular prognathia, Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodac... ORPHA:1452
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia OMIM:207950
Radio-Renal Syndrome
Respiratory distress, Short neck, Dyspnea, High, narrow palate, Hypoplasia of the radius, Abnorma... ORPHA:3015
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Fetal Akinesia Deformation Sequence 1
Polyhydramnios, Fetal akinesia sequence, High, narrow palate, High palate, Wrist flexion contract... OMIM:208150
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Bronchogenic Cyst
Back pain, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal stomach morphology, At... ORPHA:2357
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Seizure, Broad-based gait, Spastic tetraparesis OMIM:619470
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Limb ataxia, Impaired tandem gait, Dysmetria, Gait ataxia, ... OMIM:117360
Lopes-Maciel-Rodan Syndrome
Tremor, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Seizure, Bradykinesia, Hypertonia, ... OMIM:617435
Schinzel-Giedion Midface Retraction Syndrome
Long clavicles, Increased density of long bones, Ureteral stenosis, Hypospadias, Hydroureter, Wid... OMIM:269150
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy... ORPHA:1856
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Cerebral dysmyelination, Tremor, ... OMIM:312080
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p... OMIM:617866
Diastrophic Dysplasia
Abnormal clavicle morphology, Proximal placement of thumb, Micrognathia, Abnormal form of the ver... ORPHA:628
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Aplasia of the ulna, High, narrow palate, Abnormal tibia... ORPHA:2879
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Toe syndactyly, Cleft palate, Split foot OMIM:183700
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Abnormality o... ORPHA:3265
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Abnormal finger morphology, Abnormal lung lobation, Gastroesophageal r... ORPHA:2538
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Clinodactyly, Hypoplastic pubic ... OMIM:184250
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Tremor, Myoclonus, Difficulty walking, Tongue fasciculations, Generali... OMIM:159950
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... ORPHA:240103
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Axial Spondylometaphyseal Dysplasia
Thoracic scoliosis, Proximal femoral metaphyseal irregularity, Coxa vara, Deformed rib cage, Narr... ORPHA:168549
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Sandal gap, Anteverted nares, Abnormal dental enamel morphology, Prominent... ORPHA:2180
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... OMIM:134780
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... ORPHA:2842
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Abnormal oligodendroglia morphology ORPHA:217260
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia OMIM:612126
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Cerebral palsy, Bilateral tonic-clonic seizure with generalized onset, Delayed myelination, Chore... OMIM:618451
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Broad columella, Long hallux, Broad hallux pha... ORPHA:2308
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Micrognathia, Abnormal form of the vertebral bodies, Atrial septal defect,... OMIM:194190
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Inguinal hernia, Tapered toe, Polyhydramnios, Tapered finger, Bulbous nose, Increa... ORPHA:544488
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Hepa... OMIM:180860
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Syndactyly, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radi... OMIM:617895
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Abnormality of the ureter ORPHA:1035
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert... ORPHA:280
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly OMIM:615982
Mucolipidosis Ii Alpha/Beta
Osteopenia, Micrognathia, Cardiomegaly, Metaphyseal widening, Anteverted nares, Thoracolumbar kyp... OMIM:252500
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Short stature, Recurrent fractures, Polyhydramnios, Short neck, Microgna... ORPHA:1486
Frontonasal Dysplasia 2
Encephalocele, Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridg... OMIM:613451
Spinocerebellar Ataxia Type 10
Lower limb spasticity, Generalized-onset seizure, Kinetic tremor, Unsteady gait, Babinski sign, F... ORPHA:98761
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Patent ductus arteriosus, Total anomalous pulmonary venous return, Abnormal heart morphology ORPHA:487796
Atypical Rett Syndrome
Dystonia, Involuntary movements, Infantile spasms, Tremor, Inability to walk, Loss of ambulation,... ORPHA:3095
Sandestig-Stefanova Syndrome
Delayed CNS myelination, Rocker bottom foot, Short neck, Orofacial cleft, Respiratory failure, Hi... OMIM:618804
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Hypertonia, Myoclonus, Abno... ORPHA:289266
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat... ORPHA:289
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Orofaciodigital Syndrome Vi
Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma... OMIM:277170
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short... OMIM:600325
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Fe... OMIM:223800
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity OMIM:213200
Thanatophoric Dysplasia, Type I
Polyhydramnios, Short neck, Femoral bowing, Narrow chest, Neonatal death, Small abnormally formed... OMIM:187600
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
Hand-Foot-Genital Syndrome
Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Vesicoureteral reflux,... OMIM:140000
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Enlarged Parietal Foramina
Occipital encephalocele, Cleft lip, Myelomeningocele, Cleft palate, Short clavicles, Broad thumb ORPHA:60015
Jansen-De Vries Syndrome
Ventricular septal defect, Central diaphragmatic hernia, Bicuspid aortic valve OMIM:617450
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Ataxia, Spastic tetraparesis, Dystonic gait, Abnormal pyramidal sign, Titubation, Athet... ORPHA:280219
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Hypospadia... ORPHA:2438
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... OMIM:617205
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Gm1 Gangliosidosis
Mandibular prognathia, Depressed nasal ridge, Hydrops fetalis, Abnormal form of the vertebral bod... ORPHA:354
Mohr Syndrome
Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Accessory ... OMIM:252100
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,... ORPHA:306542
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly, Abnormal fin... ORPHA:314585
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Down Syndrome
Ventricular septal defect, Atrioventricular canal defect, Pulmonary artery stenosis, Patent ductu... OMIM:190685
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Premature birth, Nonimmune hydrops fetalis, Beaded ribs, T... OMIM:166210
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Orofaciodigital Syndrome Xi
Cleft palate, Postaxial polydactyly OMIM:612913
Aicardi-Goutieres Syndrome 6
Rigidity, Tremor, Leukodystrophy, Dystonia, Loss of ambulation OMIM:615010
Kbg Syndrome
Syndactyly, Tented upper lip vermilion, Macrodontia, Single transverse palmar crease, Rib fusion,... OMIM:148050
Pyknoachondrogenesis
Micromelia, Short iliac bones, Horizontal ribs, Short thorax, Abnormal iliac wing morphology, Enl... ORPHA:3003
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hypospadias, Pectus excavatum, Abnormal rib morphology, Abnormality... ORPHA:2522
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chylopericardium, Pulmonic stenosis, Pleural effusion, Ascites ORPHA:2414
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, 2-3 toe syndactyly, Renal cyst, Cutaneous syndactyly, Renal hypoplasia, Ureteral... OMIM:236500
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Hypocomplementemic Urticarial Vasculitis
Dyspnea, Emphysema, Restrictive ventilatory defect, Cough, Pleural effusion, Airway obstruction ORPHA:36412
Holzgreve Syndrome
Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Pectus excavatum, Cleft palate, Pectus carinatum, Glossoptosis, Long philtrum, Abnormal metacarpa... ORPHA:166100
Desmosterolosis
Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:35107
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Seiz... ORPHA:442835
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Gait disturbance, Dystonia... ORPHA:542310
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis OMIM:185500
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Diffuse Neonatal Hemangiomatosis
Ascites, Premature birth, Hydrops fetalis, Polyhydramnios ORPHA:2123
Phaver Syndrome
Broad hallux phalanx, Depressed nasal bridge, Camptodactyly of finger, Ventricular septal defect,... ORPHA:2876
Mosaic Trisomy 14
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Abnormal rib morphology, Cleft palate,... ORPHA:1703
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Bartsocas-Papas Syndrome 1
Short neck, Hypoplasia of the maxilla, Micrognathia, Flexion contracture, Hypoplastic iliac wing,... OMIM:263650
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Congenital Myopathy 21 With Early Respiratory Failure
Spinal rigidity, Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Spina bifida, Lymphedema, Raynaud phenomenon, Scoliosis, Hypophosphatemic ricke... ORPHA:2874
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Bla... OMIM:600057
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Tremor, Dysmyelinating leukodystrophy, Unsteady gait, Slurred speech, Babinski si... ORPHA:137898
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Reduced vital capacity, Orthopnea, Restrictive ventilatory defect, Respi... ORPHA:98913
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul... OMIM:108900
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Frequent falls, Tremor, Slurred speech, Spastic diplegia, Tetraple... ORPHA:206443
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Pectus excavatum, Pierre-Robin sequence, Abnormal rib mo... OMIM:602196
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Split hand, Respiratory failure, Diffuse demyelination of t... ORPHA:168486
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Seizure, Hypertonia, Spasticity ORPHA:33445
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short stature, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Ab... ORPHA:163966
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Inability to walk, Tremor OMIM:616269
Short-Rib Thoracic Dysplasia 12
Edema, Bowing of the legs, Short neck, Polyhydramnios, Thoracic dysplasia, Holoprosencephaly, Nar... OMIM:269860
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Acrorenal-Mandibular Syndrome
Aplasia of the bladder, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot... OMIM:200980
Vater/Vacterl Association
Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Abnormal sternum morphology, Triph... OMIM:192350
Supernumerary Nostril
Facial cleft ORPHA:141096
Fibrochondrogenesis 2
Thoracic hypoplasia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone,... OMIM:614524
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ... OMIM:616300
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Depressed nasal bridge, Short s... OMIM:122860
Emanuel Syndrome
Recurrent respiratory infections, Torticollis, Inguinal hernia, Truncus arteriosus, Ventricular s... OMIM:609029
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Preaxia... OMIM:263520
Neuraminidase Deficiency
Cardiomegaly, Facial edema, Hydrops fetalis, Cardiomyopathy, Epiphyseal stippling, Ascites OMIM:256550
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Spastic paraparesis ORPHA:391417
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Diprosopus
Non-midline cleft lip, Abnormal cardiac septum morphology, Anencephaly, Cleft palate ORPHA:1681
De Barsy Syndrome
Delayed eruption of teeth, Recurrent sinopulmonary infections, Congenital hip dislocation, Kyphos... ORPHA:2962
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Seckel Syndrome 9
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Pul... OMIM:616777
Multiple Mitochondrial Dysfunctions Syndrome 3
High palate, Respiratory failure, Respiratory insufficiency, Leukodystrophy OMIM:615330
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Torticollis, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Coffin-Siris Syndrome 3
Inguinal hernia, Central diaphragmatic hernia, Abnormal heart morphology, Macroglossia, Umbilical... OMIM:614608
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Tapered finger, Pectus excavatum, Triangular mouth, Flattened epiphysis, Ge... OMIM:607131
Zttk Syndrome
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Atrial septal defect, Depressed na... OMIM:617140
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Short stature, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phala... OMIM:300863
Rubinstein-Taybi Syndrome 1
Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Flexion contracture, Hyp... OMIM:180849
Netherton Syndrome
Recurrent respiratory infections, Emphysema, Asthma, Malabsorption ORPHA:634
Amish Lethal Microcephaly
Spina bifida, Micrognathia, Limitation of joint mobility, Osteoporosis, Decreased skull ossificat... ORPHA:99742
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Polyhydramnios, Lateral clavicle hook, Preaxial polydactyly, F... OMIM:615503
Waardenburg Syndrome, Type 1
Mandibular prognathia, Spina bifida, Underdeveloped nasal alae, Myelomeningocele, Wide nasal brid... OMIM:193500
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemiver... OMIM:271520
4H Leukodystrophy
Ataxia, Tremor, Dysmetria, Seizure, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of e... ORPHA:289494
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Seizure, Bradykinesia, Hypertonia, Dysto... OMIM:261640
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... OMIM:184400
Placental Insufficiency
Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Small placenta ORPHA:439167
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu... ORPHA:420492
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:250999
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance ORPHA:101075
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemivert... ORPHA:958
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Cervical cord compression, A... ORPHA:79345
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Thanatophoric Dysplasia
Atrial septal defect, Patent ductus arteriosus, Pulmonary hypoplasia ORPHA:2655
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
22Q11.2 Deletion Syndrome
Polyhydramnios, Short neck, Micrognathia, Atrial septal defect, Arachnodactyly, Abnormal dental e... ORPHA:567
Thoracomelic Dysplasia
Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Abnormal pelvic g... ORPHA:1803
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure, Shuffling gait,... OMIM:311510
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Pectus carinatum, Prominent... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Pectus carinatum, Prominent... ORPHA:363958
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Parakeratosis, Congenital hip dislocation, Micrognathia, Absent middle pha... OMIM:308050
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Hypoplast... OMIM:607778
Vacterl/Vater Association
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis... ORPHA:887
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Congenital pyloric atresia, Abnormality of the urina... ORPHA:158684
Matthew-Wood Syndrome
Abnormal lung morphology, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2470
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... OMIM:610185
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Orofaciodigital Syndrome Xvii
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio... OMIM:617926
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Sandal gap, Atelectasis, Rectal prolapse, Recurrent pneumonia, Pyloric stenosis... OMIM:613177
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Renal hypoplasia OMIM:615996
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Hydrocephalus, Meningocele, Anencephaly, Postaxial hand ... OMIM:611134
Thomas Syndrome
Hypoplastic left heart, Oligohydramnios, Cleft palate, Cleft upper lip ORPHA:3316
Neu-Laxova Syndrome 1
Polyhydramnios, Short neck, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Neonat... OMIM:256520
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Restrictive ventilatory defect, Respiratory failure, M... OMIM:606612
Congenital Vertical Talus
Myelomeningocele, Rocker bottom foot, Equinus calcaneus ORPHA:178382
Hereditary Methemoglobinemia
Delayed myelination, Spastic tetraplegia, Seizure, Athetosis, Hypertonia, Limb dystonia, Cerebral... ORPHA:621
Juberg-Hayward Syndrome
Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, A... ORPHA:2319
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, Recurrent upper respiratory tract infections, Congenital diaphragmatic hernia ORPHA:284180
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,... ORPHA:2756
Blepharocheilodontic Syndrome 1
Conical tooth, Cleft upper lip, Cutaneous syndactyly, Neural tube defect, Hypodontia, Clinodactyl... OMIM:119580
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Spatulate ribs, Metatarsus adductus, Hydrocephalus, Gingival ove... OMIM:253220
Grant Syndrome
Bowing of the long bones, Open bite, Abnormal rib morphology, Abnormal pelvic girdle bone morphol... ORPHA:2097
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Atrial septal defect, Total anomalous pulmonary venous return OMIM:609945
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Non-midline cleft lip, Meningocele, Hip dislocation, Bilateral cleft lip and palate, Tooth agenesis ORPHA:2003
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Coxa valga,... ORPHA:263508
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Hydrocephalus, Metaphyseal... OMIM:224400
Trisomy 8Q
Camptodactyly of finger, Myelomeningocele, Non-midline cleft lip, Orofacial cleft, Cleft palate, ... ORPHA:1752
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregularity, Recurrent pneumoni... OMIM:602271
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Seizure, Spastic paraparesis ORPHA:329284
Anencephaly 2
Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge OMIM:619452
Keutel Syndrome
Sinusitis, Miscarriage, Recurrent bronchitis, Short hallux, Premature fusion of phalangeal epiphy... OMIM:245150
Visceral Myopathy 1
Aganglionic megacolon, Intestinal pseudo-obstruction, Microcolon, Megacystis, Urinary retention, ... OMIM:155310
Kagami-Ogata Syndrome
Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Atrial septal defec... OMIM:608149
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Cupped ribs, Metaphyseal widening, Dental malocclusion, Coxa vara, ... OMIM:608940
Pallister-Hall Syndrome
Hemivertebrae, Depressed nasal ridge, Holoprosencephaly, Atrial septal defect, Atrioventricular c... ORPHA:672
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia ORPHA:306669
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Abnormal dental enamel morphology, Choanal atresia, Micrognathi... ORPHA:861
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Genu valgum, Long thorax... OMIM:619142
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia OMIM:619724
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Coxa valga, Carious teeth, Pierre-Robin sequence, Short thorax, Advanced ossific... OMIM:618363
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Sho... OMIM:114300
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Oligodontia, Cleft soft palate, Gingival overgrowth, Umbilical hernia, Short dis... OMIM:616331
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Congenital hip dislocation, Carious teeth, High palate, Long philtrum, Emphysema, Smooth philtrum ORPHA:357074
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Depressed nasal bridge, Short stature, Abnormal rib morphology, Wide n... ORPHA:1513
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Holzgreve Syndrome
Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Renal hypoplasia/aplasia, Abnormal... ORPHA:2167
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... OMIM:600002
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Seizure, Lim... ORPHA:101
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Diff... ORPHA:529665
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Tethered cord, Submucous cleft hard palate, Spinal dysraphism, Aortic valve stenosis, Hypoplastic... OMIM:617660
Isolated Dandy-Walker Malformation
Encephalocele, Tetralogy of Fallot, Cleft palate ORPHA:217
Congenital Myopathy 10B, Mild Variant
Hyperlordosis, Reduced forced vital capacity, Recurrent pneumonia, Cleft palate, Respiratory fail... OMIM:620249
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Delayed myelination, CNS hypomyelination, Respiratory failure, Stillbirth, Tong... OMIM:614922
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Atelectasis, Thin ribs, High palate, Neonatal death OMIM:300219
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Oligomeganephronia
Secundum atrial septal defect, Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Alg3-Cdg
Cardiomyopathy, Pulmonary hypoplasia, Coarctation of the descending aortic arch ORPHA:79321
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Omphalocele, Short stature, Spina bifida, Congenital... ORPHA:991
Tetraploidy
Hydronephrosis, Cleft palate, Renal hypoplasia/aplasia ORPHA:3305
Lymphangiectasia, Intestinal
Edema, Malabsorption, Pedal edema, Stillbirth, Intestinal lymphangiectasia, Prominent floating ribs OMIM:152800
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Delayed CNS myelination, Ataxia, Tremor, Inability to walk, Seizure, Hypertonia OMIM:619556
Melnick-Needles Syndrome
Micrognathia, Narrow chest, Anisospondyly, Short stature, Short thorax, Abnormal rib morphology, ... ORPHA:2484
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance ORPHA:101078
Intermediate Nemaline Myopathy
High, narrow palate, Respiratory failure, Long philtrum ORPHA:171433
Cole-Carpenter Syndrome
Communicating hydrocephalus, Delayed eruption of teeth, Crumpled long bones, Bowing of the long b... ORPHA:2050
Marfan Syndrome
Arachnodactyly, Spontaneous pneumothorax, Protrusio acetabuli, Dental crowding, Open bite, Kyphos... ORPHA:558
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Seizure, Abnormal myelination ORPHA:85179
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... ORPHA:2712
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere... ORPHA:254881
Gm1 Gangliosidosis Type 1
Spatulate ribs, Hydrops fetalis, Gingival overgrowth, Macroglossia, Cardiomyopathy, Flattened fem... ORPHA:79255
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia... ORPHA:3035
3Mc Syndrome 3
Cleft upper lip, Preaxial polydactyly, Facial cleft, Cleft palate, Radioulnar synostosis, Clinoda... OMIM:248340
Weyers Ulnar Ray/Oligodactyly Syndrome
High palate, Hydronephrosis, Cleft palate OMIM:602418
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Inguinal hernia, Ventricular septal defect, Congenital diaphragmati... OMIM:600001
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Fibrochondrogenesis
Omphalocele, Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Depressed nasal bri... ORPHA:2021
Pelger-Huet Anomaly
Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Polydactyly, Short 3rd... OMIM:169400
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Abnormality of the ureter, Short fo... ORPHA:3409
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Mandibular prognathia, Camptodactyly of finger, Tapered finger, Abnormal thorax morphology, Facia... ORPHA:1236
Triploidy
Finger syndactyly, Intestinal malrotation, Polyhydramnios, Hydrocephalus, Meningocele, Non-midlin... ORPHA:3376
Peutz-Jeghers Syndrome
Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Hamartomatous polyposis, Int... OMIM:175200
Neuronal Intranuclear Inclusion Disease
Ataxia, Tremor, Rigidity, Seizure, Gait disturbance OMIM:603472
Parietal Foramina 1
Encephalocele, Wormian bones, Cleft palate, Cleft upper lip OMIM:168500
Gm1-Gangliosidosis, Type I
Thickened ribs, Abnormal heart valve morphology, Dilated cardiomyopathy, Gingival overgrowth, Hyd... OMIM:230500
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Capitate-hamate fusion, Short toe, Limited elbow extension, Radial head subluxa... OMIM:614078
Aredyld Syndrome
Hepatomegaly, Splenomegaly, Abnormality of the ureter, Abnormal pelvic girdle bone morphology, In... ORPHA:1133
Alg8-Cdg
Brachydactyly, Premature birth, Edema, Hydrops fetalis, Macroglossia, Camptodactyly, Ascites, Oli... ORPHA:79325
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition OMIM:216300
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Triphalangeal thumb, Clino... ORPHA:84
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Polyhydramnios, Cardiomegaly, High, narrow palate, A... ORPHA:3472
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Inguinal hernia, Congenital diaphragmatic hernia, Umbilical her... OMIM:219100
Fraser Syndrome 1
Encephalocele, Aplasia/Hypoplasia of the thumb, Wide nose, Cleft ala nasi, Depressed nasal bridge... OMIM:219000
Atelosteogenesis Type Ii
Micromelia, Polyhydramnios, Narrow chest, Short phalanx of finger, Broad metacarpals, Ulnar devia... ORPHA:56304
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Premature b... ORPHA:440354
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... ORPHA:90650
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Recurrent lower respiratory tract in... OMIM:619632
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Pseudoepiphyses, Atrial septal defect, Patent foramen ovale, Joi... OMIM:157800
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:612530
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Arachnodactyly, Dyspnea, High, narrow palate, Wide mouth, Abnormal upper li... ORPHA:2707
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Subacute Inflammatory Demyelinating Polyneuropathy
Symmetric peripheral demyelination, Demyelinating motor neuropathy, Tremor, Choreoathetosis, Diff... ORPHA:206594
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... OMIM:225500
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal scle... OMIM:144750
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Intestinal obstruction, Ureteral stenosis, Renal ins... ORPHA:900
Cole-Carpenter Syndrome 2
Microretrognathia, Osteopenia, Short stature, Recurrent fractures, Pectus excavatum, Kyphosis, Hy... OMIM:616294
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesis, Truncal... OMIM:607483
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Hydronephrosis, Dysphagia OMIM:222300
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Polyhydramnios, Abnormal lung lobation, Gastroe... ORPHA:818
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Aqueductal stenos... OMIM:154400
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter OMIM:616816
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Single transverse palmar crease, Small placenta, Clinodactyly of the 5... ORPHA:73272
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis OMIM:242700
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Acute inf... ORPHA:36238
Acrorenal Syndrome
Abnormal morphology of ulna, Abnormal tibia morphology, Split hand, Cleft palate, Aplasia/Hypopla... ORPHA:971
Cystathioninuria
Tremor, Seizure ORPHA:212
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Obesity, Hyperphagia, And Developmental Delay
Seizure, Delayed myelination, Generalized non-motor (absence) seizure OMIM:613886
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Penile Agenesis
Urethral atresia, male, Hydroureter, Rectal fistula, Fetal pyelectasis, Bilateral renal hypoplasi... ORPHA:49
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria ORPHA:30
Lymphatic Malformation 13
Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Fetal pericardial effusion, Single u... OMIM:620244
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Edema, Micrognathia, Polyhydramnios, Flexion contr... OMIM:312150
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Pulmonary hypoplasia, Situs inversus totalis OMIM:202650
13Q12.3 Microdeletion Syndrome
Recurrent respiratory infections, Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Narrow chest, Brachydactyly OMIM:613819
Congenital Enterovirus Infection
Decreased fetal movement, Premature birth, Fetal ascites, Polyhydramnios, Pericardial effusion, M... ORPHA:292
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand polydactyly, Abnormality of ... ORPHA:3098
Klippel-Trénaunay Syndrome
Edema, Hydrops fetalis, Abnormal tricuspid valve morphology, Atrial septal defect, Ascites ORPHA:90308
Hartsfield Syndrome
Encephalocele, Non-midline cleft lip, Split hand, Cleft palate, Lobar holoprosencephaly, Aplasia/... ORPHA:2117
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Cupped ribs, Metaphyseal widening, F... OMIM:250420
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Polyhydramnios, Short neck, Narrow chest, Neonatal short-limb short stature, Radial bowing, Depre... OMIM:151210
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Broad hallux phalanx, Narrow nasal bridge, Toe syndactyly, Short stature, ... ORPHA:3082
Emanuel Syndrome
Recurrent respiratory infections, Inguinal hernia, Multiple joint contractures, Truncus arteriosu... ORPHA:96170
Cousin Syndrome
Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... OMIM:260660
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Seizure, Spastic paraparesis OMIM:300894
3M Syndrome
Congenital hip dislocation, Short neck, Increased vertebral height, Enlarged thorax, Clinodactyly... ORPHA:2616
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Gait ... OMIM:619092
Sarcoidosis, Susceptibility To, 1
Dyspnea, Emphysema, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxem... OMIM:181000
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Holoprosencephaly
Congenital diaphragmatic hernia, Short neck, Depressed nasal ridge, Abnormal form of the vertebra... ORPHA:2162
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tented upper lip vermilion, Tapered finger, Narrow palate, Respiratory failure, Scoliosis OMIM:616505
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Premature birth, Polyhydramnios, Protrud... ORPHA:50945
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Jejunal atresia, Abnormality of the kidney, Esophageal atre... ORPHA:391641
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,... ORPHA:449280
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Ventricular septal defect OMIM:615297
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia ORPHA:99772
Smith-Mccort Dysplasia 1
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... OMIM:607326
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Cleft palate, Hydranencephaly, Truncus arteriosus, Short distal phalan... OMIM:601355
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Abnormal... ORPHA:251071
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Congenital diaphragmatic hernia, Umbilical hernia, Diaphr... OMIM:222448
Scarf Syndrome
Inguinal hernia, Diastasis recti, Craniosynostosis, Short neck, Abnormal form of the vertebral bo... ORPHA:3134
Gastroschisis
Abdominal wall defect, Gastroschisis OMIM:230750
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Tremor, Seizure, Shuffling... ORPHA:3077
Multiple Epiphyseal Dysplasia Type 4
Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral... ORPHA:93307
Branchioskeletogenital Syndrome
Amelia involving the lower limbs, Ureteral stenosis, Thoracolumbar kyphoscoliosis, Pectus excavat... ORPHA:1299
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Dental crowding, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of the 5th finger ORPHA:231140
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Seizure, Dystonia, Limb hypert... ORPHA:70594
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ... OMIM:311300
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Fetal distress ORPHA:45452
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne... ORPHA:454836
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... ORPHA:93357
Mucopolysaccharidosis Type 4
Short neck, Pectus carinatum, Reduced bone mineral density, Anteverted nares, Abnormal dental ena... ORPHA:582
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Crigler-Najjar Syndrome Type 1
Tremor, Seizure ORPHA:79234
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Decreased number of large peripheral myelinated nerve fibers, Tremor, Chorea, O... OMIM:208920
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, CNS hypomyelination, Dysdiadocho... OMIM:614381
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Spastic gait OMIM:616795
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect OMIM:126320
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Endocrine-Cerebroosteodysplasia
Single transverse palmar crease, Micromelia, Polyhydramnios, Preaxial polydactyly, Tibial bowing,... OMIM:612651
Congenital Tracheal Stenosis
Abnormality of the kidney, Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Abnormal l... ORPHA:141127
Hogue-Janssen Syndrome 2
Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Pectus excavatum, Hydrocephalus,... OMIM:616362
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Alagille Syndrome
Hypoplasia of the ulna, Hepatomegaly, Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal... ORPHA:52
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Dentin... OMIM:259440
Mucopolysaccharidosis Type 7
Lymphedema, Metatarsus adductus, Hydrops fetalis, Epiphyseal stippling, Abnormal hip bone morphol... ORPHA:584
15Q24 Microdeletion Syndrome
Hernia, Congenital diaphragmatic hernia, Abnormal heart morphology ORPHA:94065
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... OMIM:617013
Msh3-Related Attenuated Familial Adenomatous Polyposis
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Rena... ORPHA:480536
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... OMIM:616898
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Gait apraxia, Babinski sig... OMIM:615157
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical absence status... ORPHA:225147
Atelosteogenesis, Type I
Polyhydramnios, Short neck, Micrognathia, Short metatarsal, Tibial bowing, Narrow chest, Neonatal... OMIM:108720
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Tethered cord, Kyphoscoliosis, Hype... ORPHA:573278
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... OMIM:607941
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... ORPHA:49041
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Gastrointestinal stroma tumor, Bronchiectasis, Restr... ORPHA:1572
Orofaciodigital Syndrome Xix
Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C... OMIM:620107
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mal... ORPHA:1225
Congenital Myopathy 22B, Severe Fetal
Decreased fetal movement, Hip contracture, Tented upper lip vermilion, Dental crowding, Nonimmune... OMIM:620369
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Anteverted nares, Ovoid vertebral bodies, Short hallux, ... ORPHA:1517
Neonatal Marfan Syndrome
Long toe, Neonatal respiratory distress, Arachnodactyly, Long fingers, High, narrow palate, Hypox... ORPHA:284979
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Behr Syndrome
Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Gait disturbance, Progressive spasticity... OMIM:210000
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Edema, Micrognathia, Polyhydramnios, Flexion contr... OMIM:253290
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Anteriorly placed anus, Glossoptosis, High palate, Clinodactyly of th... OMIM:117650
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Congenital pyloric atresia OMIM:612138
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure... OMIM:614299
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... OMIM:614262
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydramnios, Perior... OMIM:616843
Joubert Syndrome 10
Deep philtrum, Thick vermilion border, Postaxial polydactyly OMIM:300804
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm OMIM:618238
Pelvis-Shoulder Dysplasia
Back pain, Lumbar hyperlordosis, Congenital hip dislocation, Hypoplastic scapulae, Short stature,... OMIM:169550
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Ataxia, Tremor, Blepharospasm, Myoclonus OMIM:607876
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the... OMIM:183900
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Tibial bowing... OMIM:616482
Pontocerebellar Hypoplasia Type 1
Degeneration of anterior horn cells, Respiratory failure, Tongue fasciculations, Congenital laryn... ORPHA:2254
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites ORPHA:69735
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Gastrointestinal dysmotility, Abnormal... OMIM:270400
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... OMIM:605282
Marfan Syndrome
Arachnodactyly, Protrusio acetabuli, Kyphoscoliosis, Equinus calcaneus, Metatarsus adductus, Dent... OMIM:154700
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Hydrocephalus, Restrictive ... ORPHA:538
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Nephronophthisis 2
Situs inversus totalis, Pulmonary hypoplasia OMIM:602088
Alg1-Cdg
Kyphosis, Respiratory failure, Protein-losing enteropathy, Scoliosis ORPHA:79327
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of mouth, Wide mouth, High ... OMIM:618779
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia ORPHA:95706
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the ureter, Cleft palate, Renal hypoplasia/aplasia ORPHA:1770
Coloboma Of Macula And Skeletal Anomalies
Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5... OMIM:216800
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Sandal gap, Macrodactyly, Cranial hyperostosis, Spinal dysraphism, Scoliosis, Webb... OMIM:612918
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Pulmonary hypoplasia OMIM:145420
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Spinal rigidity, Respiratory insufficiency due to muscle weakness... ORPHA:352447
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Kyphosis, Wi... OMIM:259420
Idiopathic Pulmonary Hemosiderosis
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Restrictive ve... ORPHA:99931
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Intestinal malrotation, Cleft palate, Rectovaginal fistula, Anal atresia, R... OMIM:270420
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Downturned corners of mouth, Abnormal epiphysis morphology, Enamel hypop... ORPHA:2643
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... OMIM:603543
Lateral Meningocele Syndrome
Decreased muscle mass, Bicuspid aortic valve, Short neck, Micrognathia, Vertebral fusion, Tethere... OMIM:130720
Spontaneous Periodic Hypothermia
Tremor, Seizure, Ataxia, Gait disturbance ORPHA:29822
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Hydrocephalus, Polydactyly, Smooth philtrum OMIM:602501
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Submucous cleft hard palate, Lumbar scoliosis, Finger joint hypermobility, B... OMIM:601492
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ... OMIM:147891
Oculocerebral Hypopigmentation Syndrome, Cross Type
Abnormality of the urinary system, Ureteral stenosis ORPHA:2719
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Long Qt Syndrome 3
Nonimmune hydrops fetalis, Hydrops fetalis OMIM:603830
Pseudoachondroplasia
Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip... OMIM:177170
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Repeated pneumothoraces, Congenital diaphragmatic hernia, Camptodactyl... OMIM:617602
Oculocerebrocutaneous Syndrome
Abnormal thorax morphology, Orbital encephalocele, Congenital hip dislocation, Cleft palate OMIM:164180
Scarf Syndrome
Barrel-shaped chest, Inguinal hernia, Prominent nasal bridge, Diastasis recti, Short neck, Wide n... OMIM:312830
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Pyloric stenosis ORPHA:664
Ritscher-Schinzel Syndrome 1
Syndactyly, Ventricular septal defect, Missing ribs, Hydrocephalus, Double outlet right ventricle... OMIM:220210
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... ORPHA:90291
Hereditary Motor And Sensory Neuropathy, Type Iic
Down-sloping shoulders, Stridor, Hammertoe, Respiratory failure, Scoliosis, Intercostal muscle we... OMIM:606071
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Difficulty walking, ... ORPHA:280210
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis OMIM:619797
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology ORPHA:1027
Three M Syndrome 2
Delayed eruption of teeth, Prominent nasal tip, Scapular winging, Lumbar hyperlordosis, Anteverte... OMIM:612921
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Pyl... OMIM:256300
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation OMIM:619405
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, High, narrow palate, Renal hypoplasia, Cleft palate, Anteriorly placed... OMIM:618494
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Camptodactyly of finger, Pulmonary hypoplasia, Generalized amyotroph... ORPHA:994
Microphthalmia, Syndromic 3
Vertebral fusion, Short stature, Ventricular septal defect, Missing ribs, Postnatal growth retard... OMIM:206900
Multiple Synostoses Syndrome 1
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... OMIM:186500
Mosaic Trisomy 1
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... ORPHA:1692
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Metaphyseal widening, Anterior atlanto-occipital dislocation, High palate, ... ORPHA:536467
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Metaphyseal widening,... OMIM:182212
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Sternocleidomastoid amyotrophy, Short neck, Broad nasal tip, Abnormal rib morphology,... ORPHA:488434
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ... ORPHA:2241
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... ORPHA:3201
Alg9-Cdg
Villous atrophy, Hydrops fetalis, Right ventricular dilatation, Abnormal left ventricular outflow... ORPHA:79328
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Hypoplasia of penis, Abnormal rib morphology, Abnormality of neu... ORPHA:2772
Diamond-Blackfan Anemia 10
Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia OMIM:613309
Spinocerebellar Ataxia 2
Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Babinski sign, Limb ataxia, Dysme... OMIM:183090
Leigh Syndrome
CNS demyelination, Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Fetal Alcohol Syndrome
Atrial septal defect, Congenital diaphragmatic hernia ORPHA:1915
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Seizure, Status ep... ORPHA:363400
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Cardiac Valvular Dysplasia 1
Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, Valvular pulmonary... OMIM:212093
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency, Verte... OMIM:614701
Biemond Syndrome Type 2
Hydrocephalus, Preaxial polydactyly ORPHA:141333
Pontine Tegmental Cap Dysplasia
Rib fusion, Hemivertebrae, Facial palsy, Scoliosis OMIM:614688
Desbuquois Dysplasia 2
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Pectus carinatum, Narrow ... OMIM:615777
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Perimembranous ventricular... OMIM:618651
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Abnormal rib morphology, Renal dysplasia, Ectopic kidney ORPHA:2578
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Mckusick-Kaufman Syndrome
Hydroureter, Aganglionic megacolon, Rectovaginal fistula, Polycystic kidney dysplasia, Vesicovagi... OMIM:236700
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... OMIM:617952
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Downturned corners ... OMIM:615761
Acromesomelic Dysplasia 4
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... OMIM:619636
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele, Wide nose, Depressed nasal bridge, Micrognathia, Preaxial hand polydactyly, Abnormal... ORPHA:93271
Renpenning Syndrome
Macrodontia, Abnormal thumb morphology, High, narrow palate, Pectus excavatum, Abnormal rib morph... ORPHA:3242
Acrocraniofacial Dysostosis
Tapered finger, Coxa valga, Pectus excavatum, Cleft palate, Ulnar deviation of finger, Genu valgu... ORPHA:949
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Abnormal tibia morpholo... ORPHA:666
Joubert Syndrome 37
Hepatomegaly, Micropenis, High palate, Hydronephrosis OMIM:619185
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... OMIM:206920
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology, Hypospadias ORPHA:276422
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Ataxia, Gait disturbance ORPHA:99014
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Polyhydramnios, Mesomelic/rh... ORPHA:2347
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Camptodactyly of finger, Tachypnea, Degeneration of anterior horn cells, Respiratory failure, Ins... OMIM:604320
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,... OMIM:175050
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele ORPHA:280195
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Delayed CNS myelination, Multifocal seizures, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Sei... OMIM:617710
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Corona... OMIM:614294
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Rajab Interstitial Lung Disease With Brain Calcifications 1
Intestinal malrotation, Tachypnea, Esophageal varix, Abnormal pulmonary interstitial morphology, ... OMIM:613658
Cranioectodermal Dysplasia 2
Polyhydramnios, Hydrops fetalis, Fused teeth, High palate, Widely spaced teeth, Atrial septal def... OMIM:613610
Robinow Syndrome, Autosomal Recessive 2
Broad hallux, Sandal gap, Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, T... OMIM:618529
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Polyhydramnios, Short neck, Micrognathia, Coxa vara, Pectus carinatum, W... ORPHA:800
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis, Hydrocephalus, Short toe, Cu... OMIM:617667
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph... OMIM:300232
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Xerostomia, Abnormal respiratory sy... ORPHA:803
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Oculomotor ap... OMIM:618060
Combined Oxidative Phosphorylation Deficiency 57
Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Fetal pleural effusion,... OMIM:620167
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Fetal pericardial effusio... OMIM:617021
Neurofibromatosis, Type I
Short stature, Spina bifida, Rhabdomyosarcoma, Aqueductal stenosis, Pectus excavatum, Hydrocephal... OMIM:162200
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney OMIM:602200
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... ORPHA:210122
Williams-Beuren Region Duplication Syndrome
High palate, Hydronephrosis, Unilateral renal agenesis OMIM:609757
Saccharopinuria
Tremor, Seizure, Spastic diplegia, Gait ataxia ORPHA:3124
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Cardiomyopathy, Tota... OMIM:312870
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Achilles tendon contracture, Congenital finger flexion contractu... ORPHA:363528
Hennekam Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal oral mucosa mo... ORPHA:2136
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Tetrasomy 15Q26
High palate, Hydronephrosis, Horseshoe kidney OMIM:614846
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Seizure, Abnormal myelination ORPHA:352682
3P25.3 Microdeletion Syndrome
Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin... ORPHA:435638
Thakker-Donnai Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d... ORPHA:1780
Distal Triplication 15Q
Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology, Pulmonary hypoplasi... ORPHA:314588
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Osteopenia, Polyhydramnios, Femoral bowing, Narrow chest, Anteverted... OMIM:618188
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, High, narrow palate, Pyloric stenosis, Cleft palate, Narrow pa... ORPHA:96169
Pfeiffer Syndrome Type 3
Intestinal malrotation, Cleft palate, Horseshoe kidney, High palate, Vesicoureteral reflux, Hydro... ORPHA:93260
Mucopolysaccharidosis, Type Iiia
Inguinal hernia, Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, O... OMIM:252900
Free Sialic Acid Storage Disease
Ascites, Hydrops fetalis ORPHA:834
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Mul... ORPHA:220460
Pyruvate Dehydrogenase E1-Alpha Deficiency
Long philtrum, Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Hydrolethalus
Premature birth, Micromelia, Polyhydramnios, Hydrocephalus, Postaxial hand polydactyly, Anencepha... ORPHA:2189
Developmental And Epileptic Encephalopathy 46
Tremor, Seizure, Generalized-onset seizure, Limb hypertonia OMIM:617162
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Arachnodactyly, Lumbar hyperlordosis, Kyphoscoliosis, Absent thumb, Rib... ORPHA:500150
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Cleft palate,... OMIM:601076
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth... ORPHA:2902
Hurler Syndrome
Abnormal clavicle morphology, Short neck, Endocardial fibroelastosis, Abnormal vertebral morpholo... ORPHA:93473
Myoclonic-Astatic Epilepsy
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Simple febrile se... ORPHA:1942
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... ORPHA:70588
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Ataxia, Tremor, Poor coordination, Gait disturbance, Eating-induced se... ORPHA:544254
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure OMIM:613954
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... ORPHA:2911
Zaki Syndrome
Patent foramen ovale, Congenital diaphragmatic hernia OMIM:619648
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
Aspergillosis
Abnormality of the kidney, Pneumonia, Hypersensitivity pneumonitis, Abnormal rib morphology, Bron... ORPHA:1163
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis OMIM:613735
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... OMIM:616503
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... ORPHA:3258
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis OMIM:153100
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Oligohydramnios OMIM:231100
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Bladder trabeculation, Cleft palate, Hy... OMIM:614080
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:1388
Genitopalatocardiac Syndrome
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia ORPHA:2075
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure, Leukodystrophy OMIM:610678
Waardenburg Syndrome Type 3
Tented upper lip vermilion, Camptodactyly of finger, Atelectasis, Abnormal finger morphology, Cut... ORPHA:896
Beckwith-Wiedemann Syndrome
Premature birth, Polyhydramnios, Large placenta, Subchorionic septal cyst, Cleft palate, Wide mou... ORPHA:116
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Tented upper lip vermilion, Pneumonia, Abnormal respiratory sys... ORPHA:98905
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp... OMIM:211350
Gabriele-De Vries Syndrome
Hallux valgus, Sandal gap, Long fingers, High palate, Finger joint hypermobility, Intrauterine gr... OMIM:617557
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Hypoplastic ver... OMIM:224300
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Tethered cord, Spina bifida, Tapered finger, Broad nasal tip, Patent ductus arterios... OMIM:619480
Orofaciodigital Syndrome Type 2
Apnea, Complete duplication of hallux phalanx, Tachypnea, Finger clinodactyly, High palate, Short... ORPHA:2751
Marden-Walker Syndrome
Decreased muscle mass, Inguinal hernia, Dextrocardia, Congenital contracture, Pulmonary hypoplasi... OMIM:248700
Kniest Dysplasia
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Pectus excavatum, Delayed epiphyseal ossi... OMIM:156550
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Hemiparesis,... OMIM:602481
9Q21.13 Microdeletion Syndrome
Gastrointestinal dysmotility, Abnormal tongue morphology, Hydronephrosis ORPHA:531151
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Pulmona... OMIM:208050
Stickler Syndrome, Type I
Arachnodactyly, Kyphosis, Irregular femoral epiphysis, Submucous cleft hard palate, Pierre-Robin ... OMIM:108300
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Dental crowding, Lateral clavicle hook, High, narrow palate, 2-3 toe cu... OMIM:600920
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Cardiomyopathy, Premature birth, Nonimmune hydrops fetalis OMIM:618839
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections OMIM:619218
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Camptodactyly of finger, Wide mouth, Respiratory failure, Short philtrum ORPHA:1194
Lowry-Maclean Syndrome
Atrioventricular canal defect, Inguinal hernia, Congenital diaphragmatic hernia ORPHA:2409
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections ORPHA:1548
Gaucher Disease, Perinatal Lethal
Decreased fetal movement, Everted upper lip vermilion, Premature birth, Nonimmune hydrops fetalis... OMIM:608013
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Hypertrophic cardiomyopathy, Premature birth, Nonimmune hydrops fetalis OMIM:618835
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia... ORPHA:2473
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Nonimmune hydrops fetalis, Cardiomegaly OMIM:618838
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Abnormal metaphysis morphology, Respiratory failure ORPHA:1861
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesia sequence, Dilated cardiomyopathy, Esoph... ORPHA:367
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Intestinal malrotation, Epispadias, Ve... OMIM:258040
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... ORPHA:157798
Exstrophy-Epispadias Complex
Abnormality of the gastrointestinal tract, Renal insufficiency, Bladder fistula, Anal stenosis, U... ORPHA:322
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia ORPHA:1745
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Cutis Laxa, Autosomal Dominant 1
Dyspnea, Bronchiectasis, Long philtrum, Emphysema, Peripheral pulmonary artery stenosis OMIM:123700
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cleft p... ORPHA:2059
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Hyp... OMIM:311900
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Delayed CNS myelination, Submucous cleft hard palate, Bifid uvula, Absent thumb OMIM:619239
Webb-Dattani Syndrome
Neurogenic bladder, Hyposthenuria, Gastroesophageal reflux, Vesicoureteral reflux, Hydronephrosis OMIM:615926
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect OMIM:613759
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Bronchitis, Respiratory tract infection, Nonproductive c... ORPHA:60025
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Cleft ... OMIM:153400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Atrial septal defect, Hip contracture, Bilateral fetal pyelectasis, Polyhydramnios, Breech presen... OMIM:300868
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Wrinkly Skin Syndrome
Delayed eruption of teeth, Recurrent sinopulmonary infections, Congenital hip dislocation, Kyphos... ORPHA:2834
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Abnormal urinary color, Hepatomegaly ORPHA:234
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Increased density of l... OMIM:305620
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Pneumothorax, Hip dislocation, Recurrent pneumonia, Respiratory insufficiency, ... ORPHA:90349
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... OMIM:128100
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac w... OMIM:210720
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls OMIM:616719
Suleiman-El-Hattab Syndrome
Thin upper lip vermilion, Single transverse palmar crease, Thick lower lip vermilion, Downturned ... OMIM:618950
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Non-midline cleft lip, Orofacial cleft, Cleft palate, Triphalangeal thumb,... OMIM:141400
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... ORPHA:2255
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Hematemesis... OMIM:263200
Osteopathia Striata With Cranial Sclerosis
Polyhydramnios, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Clinodactyly of t... OMIM:300373
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Telangiectasia, Hereditary Hemorrhagic, Type 4
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... OMIM:610655
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Skeletal muscle atrophy, Congenital muscular torticollis, Arachnodactyly, Camp... ORPHA:2215
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Bowing of the long bones, Respiratory insufficiency, Short long bone, Pu... OMIM:224410
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Hyperlordosis, High, narrow palate, Submucous cleft hard palate, High ... ORPHA:2780
Hardikar Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Partial anomalous... OMIM:301068
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p... OMIM:250220
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema ORPHA:70578
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Polyhydramnios, Missing ribs, Abnormal rib morphology, Abnormal lun... ORPHA:3301
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Sneddon Syndrome
Tremor, Seizure, Chorea, Hemiparesis ORPHA:820
Lethal Acantholytic Erosive Disorder
Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Respiratory failure, Cli... ORPHA:158687
Cleidocranial Dysplasia 1
Micrognathia, Short middle phalanx of the 2nd finger, Coxa vara, Narrow chest, Hypoplastic iliac ... OMIM:119600
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp... OMIM:208500
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy, Progressive... ORPHA:2821
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Ulbright-Hodes Syndrome
Respiratory distress, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short m... ORPHA:3404
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Seizure, Spasticity, Tremor OMIM:618718
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Hyperlordosis, Protruding tongue, Atelectasis, Respiratory insufficiency, Pulmon... ORPHA:258
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Thoracic scoliosis, Respiratory failure, High palate, Chy... OMIM:620278
Ear-Patella-Short Stature Syndrome
Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Dyspnea, High, narrow palate, P... ORPHA:2554
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Emphysema, Pneum... ORPHA:31204
Dysostosis, Stanescu Type
Narrow nasal bridge, Bowing of the long bones, Increased bone mineral density, Short stature, Abn... ORPHA:1798
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Malabsorption, Anteriorly placed anus, Hydronephrosis, Anal atr... ORPHA:2315
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact... OMIM:174300
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis, Cleft palate ORPHA:1727
Immunodeficiency 54
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency OMIM:609981
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... OMIM:137440
Alpha-Thalassemia
Hydrops fetalis ORPHA:846
Viss Syndrome
Chronic gastritis, High, narrow palate, High palate, Broad uvula, Emphysema, Bifid uvula, Long to... OMIM:619472
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
20P13 Microdeletion Syndrome
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl... ORPHA:313781
Igg4-Related Aortitis
Intestinal obstruction, Hydronephrosis ORPHA:449400
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Seizure, Gait disturban... ORPHA:765
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short neck, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha... OMIM:271665
Stromme Syndrome
Jejunal atresia, Intestinal malrotation, Bilateral renal hypoplasia, Cleft palate, Stillbirth, Hy... OMIM:243605
Osteoglophonic Dysplasia
Mandibular prognathia, Osteopenia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... OMIM:166250
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Inguinal hernia, Ventricular septal defect, Hyperlordosis, Short neck,... ORPHA:2789
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Familial Adenomatous Polyposis 4
Duodenal polyposis, Adenomatous colonic polyposis, Renal cyst, Gastric adenocarcinoma OMIM:617100
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
High palate, Hydronephrosis, Cleft palate ORPHA:488613
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing... OMIM:268305
Osteogenesis Imperfecta, Type Viii
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... OMIM:610915
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate ORPHA:2521
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Cleft pal... ORPHA:3429
Fabry Disease
Malabsorption, Dyspnea, Chronic pulmonary obstruction, Thick lower lip vermilion, Abnormal femur ... ORPHA:324
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, High palate, Hydronephrosis OMIM:104350
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:745
Acromelic Frontonasal Dysplasia
Encephalocele, Median cleft lip, Meningocele, Patellar hypoplasia, Wide mouth, Talipes equinovaru... ORPHA:1827
Joubert Syndrome 7
Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum OMIM:611560
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Epiphyseal stippling, Macroglossia, Short distal phalanx of fing... ORPHA:1914
Curry-Jones Syndrome
Anal stenosis, Intestinal pseudo-obstruction, Duplication of thumb phalanx, Lip pit, Intestinal m... OMIM:601707
Fryns Syndrome
Ureteral duplication, Proximal placement of thumb, Polyhydramnios, Renal cyst, Prominent fingerti... OMIM:229850
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Malabsorption, Pyloric stenosis, High pa... ORPHA:912
Opsismodysplasia
Edema, Short neck, Polyhydramnios, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short ... OMIM:258480
Farber Disease
Abnormality of the knee, Short toe, Abnormality of the elbow, Hydrops fetalis, Joint swelling, Ar... ORPHA:333
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Au-Kline Syndrome
Downturned corners of mouth, Oligodontia, High palate, Clinodactyly of the 5th finger, Bifid uvul... OMIM:616580
Arterial Tortuosity Syndrome
Respiratory distress, Arachnodactyly, Rocker bottom foot, Coxa valga, Avascular necrosis of the c... ORPHA:3342
Myhre Syndrome
Short neck, Short philtrum, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Cleft lip, Shor... OMIM:139210
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Myelomeningocele... OMIM:311200
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Cleft upper lip, Cleft palate, Cervical ribs, High palate OMIM:609654
Nephronophthisis 15
Polydactyly OMIM:614845
Buratti-Harel Syndrome
Broad hallux, Velopharyngeal insufficiency, Recurrent pneumonia, Submucous cleft hard palate, Bif... OMIM:619314
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Cleft palate, Macroglossia, High palate, ... ORPHA:261290
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Polyhydramnios, Glandular hypospadias, Thin ribs, High palate, Micropenis, Penile hypospadias, Pe... ORPHA:456328
Diaphragmatic Hernia 4, With Cardiovascular Defects
Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a... OMIM:620025
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormal morphology of the radius, Median cleft lip, Premature birth, Radial club hand, Cleft pal... ORPHA:2165
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Submucous cleft hard palate, Epiphyseal stippling, Abnormal pelvic girdle bone mor... OMIM:222765
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Hypoplastic scapulae, Short stature,... OMIM:602471
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia, Cardiomegaly OMIM:620306
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia... OMIM:620076
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hepatomegaly, Hypospadias, Megarectum, Vesicoureteral reflux, Micro... OMIM:301056
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... OMIM:151050
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Decreased muscle mass, Anteverted nares, Micrognathia, Postnatal growth retardation, Metaphyseal ... ORPHA:73230
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Abnormality of the ankle, Carpal s... ORPHA:2010
3C Syndrome
Hypoplasia of penis, Hypospadias, Intestinal malrotation, High, narrow palate, Cleft palate, Ecto... ORPHA:7
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi... OMIM:184253
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypoplastic ischia OMIM:616910
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ... ORPHA:1106
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Deep philtrum, 2-3 toe s... ORPHA:404440
Orofaciodigital Syndrome Iii
Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydac... OMIM:258850
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect OMIM:301044
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Craniofacial hyperostosis, Short stature, Prominent nasal bridge, Facial... ORPHA:3068
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral e... OMIM:271640
Pseudo-Torch Syndrome 2
Hepatomegaly, Thin ribs, Gray matter heterotopia, Ascites, Abnormal renal corticomedullary differ... OMIM:617397
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect, Pulmonary sequestration OMIM:618330
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Intestinal malrotation, Gastroesophageal reflux, Hydronephrosis, Cleft palate ORPHA:457193
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Abnormality of t... OMIM:607823
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Postaxial polydactyly, Hydrocephalus, Meningocele, Cle... OMIM:614424
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Oral ulcer OMIM:620321
Gastroschisis
Gastroschisis ORPHA:2368
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Recurrent respiratory infections, Congenital hip dislocation, Dental crowding, K... ORPHA:2020
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Interstitial pneumonitis, Recurrent upper respiratory tract infec... OMIM:620296
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Mucopolysaccharidosis, Type X
Aortic regurgitation, Irregular acetabular roof, Thickened aortic valve cusp, Spatulate ribs, Hyp... OMIM:619698
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Death in infancy, Neonatal respiratory distress, Tapered toe, Apnea, Tapered finger, Lo... OMIM:608836
Osteogenesis Imperfecta, Type X
Osteopenia, Thoracic scoliosis, Micrognathia, Generalized joint laxity, Tibial bowing, Narrow che... OMIM:613848
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine... OMIM:200990
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal intervertebral disk morphology, Short neck, Abnormal finger morphology, Abnormal form of... ORPHA:2636
Myopathy With Extrapyramidal Signs
Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Seizure, Status epilepticus, Abnorma... OMIM:615673
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Recurrent fractures, Aplastic clavicle, Missing ribs, Prominent nose, Kyph... ORPHA:2769
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Micrognathia, Pectus carinatum, Decreased skull ossification, Partial abs... ORPHA:955
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... OMIM:168601
Rhombencephalosynapsis
Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Tracheoesophageal fi... ORPHA:59315
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hyperkeratosis with erythema, Hypoplasia of the nasal bone, Moderate postnatal g... OMIM:118650
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Congenital hip dislocation, Fractures of the ... ORPHA:496641
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Galloway-Mowat Syndrome 7
Hallux valgus, Ventricular septal defect, Arachnodactyly, Edema, Cleft lip, Partial duplication o... OMIM:618348
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ureteropelvic junction obstruction, Hepatomegaly, Duplicated collecting system, Broad 2nd toe, Pe... OMIM:280000
Xylt1-Cdg
Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick vermilion border, Short femor... ORPHA:370930
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Aqueductal stenosis, Absent radius, Missing ribs, Humeroradial synostos... OMIM:251230
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
White-Sutton Syndrome
Atrial septal defect, Patent foramen ovale, Facial hypotonia, Congenital diaphragmatic hernia OMIM:616364
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly OMIM:614526
Muscular Dystrophy, Duchenne Type
Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Restrictive ven... OMIM:310200
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Cleft palate, Femoral bowing, N... ORPHA:83
Cutis Laxa, Autosomal Recessive, Type Ib
Arachnodactyly, Emphysema, High palate, Pulmonary artery aneurysm, Pulmonary artery dilatation OMIM:614437
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Ca... OMIM:245600
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Keloids, Ventricular septal defect ORPHA:357225
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Pneumonia, Dyspnea, Short foot, Respiratory failure, Thick vermilion border... OMIM:617809
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... OMIM:602535
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, ... OMIM:601812
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Smith-Magenis Syndrome
Toe syndactyly, Renal hypoplasia/aplasia, Abnormality of the ureter, Cleft palate, Abnormal local... ORPHA:819
Kury-Isidor Syndrome
High palate, Hydronephrosis OMIM:619762
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Cleft lip, Late... OMIM:617925
Aase-Smith Syndrome I
Hydrocephalus, Cleft palate, Talipes equinovarus, Open mouth, Slender finger OMIM:147800
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, High... OMIM:618142
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Postnatal grow... ORPHA:93324
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gi... ORPHA:1788
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Pyloric stenosis, Renal cyst, Macroglossia... ORPHA:261494
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Epispadias, Abnormality of the ure... ORPHA:3339
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea, Leukodystrophy ORPHA:444013
Sacral Defect With Anterior Meningocele
Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Bi... OMIM:600145
Varicose Veins
Varicose veins OMIM:192200
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Urethrovesical occlusion, Esophageal atresia, Congenital pyloric atresia OMIM:226730
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic ... ORPHA:373
Autosomal Dominant Cutis Laxa
Hip dislocation, Bronchiectasis, Abnormal curvature of the vertebral column, Scoliosis, Small bow... ORPHA:90348
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Rectovaginal fistula, Vesicoureteral reflux, Crossed fuse... OMIM:300707
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Hydrops fetalis, Abnormality of the dentition ORPHA:88618
Crane-Heise Syndrome
Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Anteverte... ORPHA:1512
Intellectual Developmental Disorder, Autosomal Dominant 42
Neurogenic bladder, Tapered finger, Pectus excavatum, Cleft palate, High palate, Dysphagia, Urete... OMIM:616973
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Abnormality of the dentition, Atelec... ORPHA:2314
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Short tub... ORPHA:85184
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Narrow mouth, Downturned corners of mouth, Wide mouth, Short philtrum, Abnormal myelination, Cerv... OMIM:617333
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Abnormal acetabulum morphology, Long clavicles, Postaxial polydactyly, R... ORPHA:397715
Ddost-Cdg
Tremor, Seizure, Oromotor apraxia, CNS hypomyelination ORPHA:300536
Stuve-Wiedemann Syndrome 1
Short neck, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, S... OMIM:601559
Mesomelia-Synostoses Syndrome
Aplasia/Hypoplasia of the uvula, High, narrow palate, Hydronephrosis ORPHA:2496
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... ORPHA:308552
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Adams-Oliver Syndrome 6
Splenomegaly, Esophageal varix, Renal hypoplasia OMIM:616589
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Hydronephrosis ORPHA:2083
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Duane-Radial Ray Syndrome
Renal malrotation, Anal stenosis, Renal agenesis, Aganglionic megacolon, Renal hypoplasia, Horses... OMIM:607323
Joubert Syndrome 27
Thick lower lip vermilion, Polydactyly OMIM:617120
Ataxia-Telangiectasia-Like Disorder 2
Joint contracture, Congenital diaphragmatic hernia OMIM:615919
Native American Myopathy
Respiratory insufficiency, Abnormal curvature of the vertebral column, Cleft palate, Downturned c... ORPHA:168572
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Short neck, Abnormal rib morphology, Scoliosis, Webbed neck, Cer... OMIM:118100
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Opitz Gbbb Syndrome
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Abnorma... ORPHA:2745
Diphallia
Abnormality of the gastrointestinal tract, Ureteral duplication, Renal malrotation, Rectoperineal... ORPHA:227
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Patent ductus arteriosus, Pulmonary hypoplasia, Neonatal death, Atrial se... OMIM:208540
Peroxisome Biogenesis Disorder 4A (Zellweger)
Epiphyseal stippling, Respiratory failure, Death in infancy OMIM:614862
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Myelopathy, Bradypnea, Respiratory failure, Cervical myelopathy, Death in childhood OMIM:617186
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Seizure, Hypert... OMIM:618056
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... ORPHA:93259
Combined Oxidative Phosphorylation Deficiency 32
Tremor, Inability to walk, Choreoathetosis, Seizure, Dystonia, Spasticity OMIM:617664
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... OMIM:192445
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... ORPHA:52368
Holoprosencephaly 1
Alobar holoprosencephaly, Facial cleft, Single ventricle, Ethmocephaly, Median cleft lip and palate OMIM:236100
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Narrow mouth, Mi... ORPHA:1307
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... OMIM:615994
Pulmonary Hypertension, Primary, 1
Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Arterial intimal fibros... OMIM:178600
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Gastrointestinal dysmotility, Micropenis, Hydronephrosis, Duodenal atresia OMIM:617798
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Thin upper lip vermilion, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary in... OMIM:620233
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Short stature, Coxa valga, Cari... OMIM:269300
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Cleft palate, Hydronephrosis, Polycystic kidney d... ORPHA:2237
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Hydronephrosis, Esophagitis, Hepatosplenomegaly ORPHA:541423
Meckel Syndrome 12
Rocker bottom foot, Ureteral hypoplasia, Renal hypoplasia, Bilateral renal agenesis, Intrauterine... OMIM:616258
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2736
2Q37 Microdeletion Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:1001
Fraser Syndrome 2
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Short thorax, ... OMIM:617666
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Short metatarsal, Broad ribs, Broad metacarpals, Short metacarpal, Lum... OMIM:608328
Chromosome 3Pter-P25 Deletion Syndrome
Thin upper lip vermilion, Overlapping toe, Postaxial polydactyly, Tapered finger, Downturned corn... OMIM:613792
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Tremor, Seizure, Hyperkinetic movements, Upper limb spasticity, G... ORPHA:457240
Monosomy 9Q22.3
Delayed eruption of teeth, Rhabdomyosarcoma, Short neck, Pectus excavatum, Kyphosis, Hydrocephalu... ORPHA:77301
Mgat2-Cdg
Ventricular septal defect, Dental crowding, Hydrops fetalis, Abnormal heart morphology, Open mout... ORPHA:79329
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Inguinal hernia, Femoral hernia,... ORPHA:2588
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Arachnodactyly, Cleft soft palate, Kyphoscoliosis, Hiatus hernia, Eos... OMIM:615582
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Osteopeni... OMIM:616229
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... OMIM:617412
Muir-Torre Syndrome
Renal neoplasm, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Colon ca... ORPHA:587
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Umbilic... OMIM:618454
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Hypospadias, Horseshoe kidney OMIM:218350
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Thickened ribs, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Rec... OMIM:252920
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Short stature, Short neck, Tapered finger, Hip dislocation,... OMIM:618395
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... OMIM:165590
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Renal cyst, Tibial bowing, Anteriorly placed anus, High palate, Hep... ORPHA:798
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Thin upper lip vermilion, Sandal gap, High, narrow palate, Hydrocephalus, S... OMIM:612863
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High... OMIM:220110
Lumbar Syndrome
Anal atresia, Myelomeningocele, Ectopic anus, Spina bifida ORPHA:83628
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia, Abnormal hear... ORPHA:468678
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Atrophy of the spinal cord, Hydrocephalus, Dilated cardiomyopathy, Hydrops fetalis, Dehydration, ... ORPHA:79282
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... ORPHA:568051
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Splenomegaly, Cleft palate, Protein-losing enteropathy, High palate, Micropenis, Hy... OMIM:235255
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Cerebellar-Facial-Dental Syndrome
Ureteropelvic junction obstruction, Hydronephrosis ORPHA:444072
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol... ORPHA:2754
Campomelic Dysplasia
Short neck, Micrognathia, Femoral bowing, Tibial bowing, Narrow chest, Hypoplastic inferior ilia,... ORPHA:140
Genitopatellar Syndrome
Hip contracture, Knee flexion contracture, Pulmonary hypoplasia, Atrial septal defect, Arthrogryp... ORPHA:85201
Monosomy 9P
Hypospadias, Proximal placement of thumb, Abnormality of the tarsal bones, Postaxial hand polydac... ORPHA:261112
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Mitochondrial Trifunctional Protein Deficiency 1
Abnormality of the amniotic fluid, Dilated cardiomyopathy, Hydrops fetalis OMIM:609015
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal tricuspi... ORPHA:217085
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Thor... OMIM:618019
Chromosome 13Q33-Q34 Deletion Syndrome
Left ventricular hypertrophy, Patent ductus arteriosus, Pulmonary hypoplasia, Pulmonic stenosis OMIM:619148
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Hydronephrosis, Narrow palate ORPHA:364028
Kenny-Caffey Syndrome, Type 1
Long clavicles, Proportionate short stature, Carious teeth, Thin clavicles, Small hand, Thin ribs... OMIM:244460
Intellectual Disability, Buenos-Aires Type
High palate, Hydronephrosis ORPHA:3079
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge... OMIM:619721
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Inguinal hernia, Depressed nasal bridge, Sandal gap, Abnormal dental enamel morphology, Polyhydra... ORPHA:1812
Nipah Virus Disease
Tremor, Seizure, Myoclonus ORPHA:99825
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, High palate, Clinodactyly of the 5th finger, S... OMIM:201000
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Shor... OMIM:252600
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis OMIM:610733
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Abnormality of the ureter, B... ORPHA:3253
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Anal stenosis, Congenital hip dislocation, Crossed fused rena... OMIM:147920
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait OMIM:168600
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:743
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Atrial septal defec... OMIM:309801
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Hypoplas... ORPHA:3144
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Abnormal renal morphology, Hepatosplenomegaly, Protein-losing enterop... ORPHA:1655
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal tricuspi... ORPHA:217093
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Femoral bowing, Choanal stenosis, Narrow chest, Abnormal vertebral morpholog... ORPHA:95699
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Familial Visceral Myopathy
Hydroureter, Aganglionic megacolon, Megacystis, Cleft palate, Vesicoureteral reflux ORPHA:2604
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:568
Tetrasomy 5P
Pericallosal lipoma, Recurrent respiratory infections, Aplasia/Hypoplasia of the abdominal wall m... ORPHA:3309
Snakebite Envenomation
Respiratory failure, Respiratory paralysis, Epistaxis, Gingival bleeding ORPHA:449285
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect OMIM:619717
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, CNS hypomyeli... OMIM:615356
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,... OMIM:616586
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Intestinal malrotation, Urinary incontinence, Sp... ORPHA:2729
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Neonatal death, Congenital diaphragmatic hernia OMIM:194080
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, Glandular hypospadias, Cleft palate, Glossoptosis, High palate,... ORPHA:1358
Gracile Bone Dysplasia
Asplenia, Flared metaphysis, Hypoplastic spleen, Thin ribs, Slender long bone, Micropenis, Ascite... OMIM:602361
Tarp Syndrome
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Pulmonary hypoplasia ORPHA:2886
Yunis-Varon Syndrome
Congenital hip dislocation, Polyhydramnios, Short metatarsal, Hydrops fetalis, Short philtrum, Hi... OMIM:216340
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal rib morphology, Tracheoesophageal fistula, Intestinal atresia ORPHA:93941
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr... ORPHA:1596
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia OMIM:617914
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, High palate, Renal artery stenos... OMIM:617913
Wildervanck Syndrome
Fused cervical vertebrae, Meningocele ORPHA:3456
X-Linked Mandibulofacial Dysostosis
Short stature, Prominent nasal bridge, Micrognathia, Pectus excavatum, Branchial anomaly, Hypopla... ORPHA:1131
Meckel Syndrome, Type 6
Occipital encephalocele, Cleft upper lip, Hydrocephalus, Postaxial hand polydactyly, Anencephaly,... OMIM:612284
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Cleft palate, Furrowed tongue, High palate, Gastroesophageal reflux, Hydronephrosis OMIM:616449
Joubert Syndrome 20
4-5 toe syndactyly, Postaxial polydactyly OMIM:614970
Diets-Jongmans Syndrome
Umbilical hernia, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:618846
Mandibulofacial Dysostosis With Alopecia
Glossoptosis, Hydroureter, Cleft palate OMIM:616367
Pseudoaminopterin Syndrome
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... ORPHA:221120
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius, Cleft palate, Cleft upper lip OMIM:179400
X-Linked Hypophosphatemia
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... ORPHA:89936
W Syndrome
Hypoplasia of the ulna, Radial bowing, Broad uvula, Metatarsus adductus, Submucous cleft hard pal... ORPHA:2804
Cree Mental Retardation Syndrome
Aplasia/Hypoplasia of the ribs, Cutaneous finger syndactyly, Rocker bottom foot, Cleft soft palate OMIM:606851
Branchio-Oculo-Facial Syndrome
High palate, Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Pulmonary hypoplasia OMIM:231680
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Joint ... ORPHA:583
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait OMIM:168605
Mosaic Trisomy 8
Wide nose, Anteverted nares, Camptodactyly of finger, Short stature, Short neck, Micrognathia, Br... ORPHA:96061
Spondyloepimetaphyseal Dysplasia, X-Linked
Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum... OMIM:300106
Microcephaly 30, Primary, Autosomal Recessive
Clinodactyly of the 5th finger, Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate OMIM:620183
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Short stature, Ventricular septal defect, Proximal placement of thumb, Long nose, Postnatal growt... OMIM:620113
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... ORPHA:411696
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Thick nasal septum, Pectus carina... OMIM:303600
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Riddle Syndrome
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... ORPHA:420741
Vertebral Hypersegmentation And Orofacial Anomalies
Submucous cleft hard palate, Unilateral cleft lip, Supernumerary ribs, Six lumbar vertebrae, Unil... OMIM:619122
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:607625
Birk-Barel Syndrome
Sacral dimple, Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft pala... OMIM:612292
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis, Protruding tongue OMIM:619179
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... ORPHA:85167
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Delayed CNS myelination, Tented upper lip vermilion, Exaggerate... OMIM:608670
Turnpenny-Fry Syndrome
Mandibular prognathia, Polyhydramnios, Prominent interphalangeal joints, Pectus carinatum, Long t... OMIM:618371
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart OMIM:616276
Thanatophoric Dysplasia Type 2
Atrial septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs ORPHA:93274
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Polyhydramnios, Postaxial hand ... OMIM:617088
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Edema, Short metatarsal, Renal cyst, High palate, Narrow chest, Nephronopht... OMIM:266920
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Microretrognathia, Sho... OMIM:614008
Cardiofaciocutaneous Syndrome
Atrial septal defect, Anteverted nares, Abnormal morphology of ulna, Depressed nasal bridge, Shor... ORPHA:1340
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... OMIM:614527
Trichorhinophalangeal Syndrome, Type Ii
Recurrent respiratory infections, Internal carotid artery dissection, Bicuspid aortic valve, Cere... OMIM:150230
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Amniotic constriction ring, Lip pit ORPHA:1072
16P13.11 Microduplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:261243
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Anal stenosis, Hydroureter, Renal agenesis, Absenc... OMIM:604292
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Short neck, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Wide... OMIM:619950
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelination, Spasticity OMIM:618527
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity OMIM:616840
Kinsship Syndrome
Thin upper lip vermilion, Single transverse palmar crease, Coxa valga, Thick lower lip vermilion,... OMIM:619297
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal stenosis, Proteinuria, Hypoperistalsis, Esophageal neoplasm, Chronic kidney disease, S... ORPHA:1018
Cerebrooculonasal Syndrome
Encephalocele, Postaxial polydactyly, Hydrocephalus, Postaxial hand polydactyly, Narrow palate, C... OMIM:605627
Micro Syndrome
Hypoplasia of penis, High palate, Hydronephrosis, Abnormal localization of kidney ORPHA:2510
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Meckel Syndrome 14
Pneumothorax, Pulmonary hypoplasia, Single ventricle OMIM:619879
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Oroma... OMIM:614298
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Rectal prolapse, High palate, Clin... ORPHA:235
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa... ORPHA:249
Joubert Syndrome 23
Polydactyly OMIM:616490
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly OMIM:604757
Autosomal Dominant Centronuclear Myopathy
Pyloric stenosis, Urinary incontinence, Polyhydramnios, Thin ribs ORPHA:169189
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Anteverted nares, Depressed nasal bridge, Short stature, Micrognathia, Short neck, Pos... OMIM:257300
Weill-Marchesani Syndrome 1
Thin bony cortex, Lumbar hyperlordosis, Depressed nasal bridge, Short stature, Proportionate shor... OMIM:277600
Lambert Syndrome
Inguinal hernia, Ventricular septal defect ORPHA:1296
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Arthrogryposis multiplex congenita, Pulmonary hypoplasia ORPHA:86822
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom... OMIM:619542
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Mandibular prognathia, Osteopenia, Thickened ribs, Short neck, Pectu... ORPHA:309282
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Non-midline cleft lip, Spli... ORPHA:1300
Cornelia De Lange Syndrome 1
Inguinal hernia, Ventricular septal defect, Pneumonia, Congenital diaphragmatic hernia, Hiatus he... OMIM:122470
Schilbach-Rott Syndrome
2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous syndactyly, Narro... OMIM:164220
Sarcoidosis
Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Pneumothorax, Bronchiectasis, Uppe... ORPHA:797
Lathosterolosis
Abnormal thoracic spine morphology, Toe syndactyly, Postaxial hand polydactyly, Meningocele, Ging... ORPHA:46059
Ventriculomegaly With Cystic Kidney Disease
Premature birth, Polyhydramnios, Postaxial polydactyly, Hydrocephalus, Fetal pericardial effusion OMIM:219730
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Broad toe, Hypospadias, Urinary incontinence, Renal agenesis, Tapered finger,... OMIM:619522
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... ORPHA:223
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand OMIM:245800
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi... OMIM:615512
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... ORPHA:989
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Dysphagia, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Tay-Sachs Disease
Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to walk, Typical absenc... ORPHA:845
Retinitis Pigmentosa 89
Esophageal varix, Postaxial polydactyly OMIM:618955
Unilateral Polymicrogyria
Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology ORPHA:268943
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Congenital Disorder Of Glycosylation, Type Ia
Thin upper lip vermilion, Villous atrophy, Pericarditis, Nonimmune hydrops fetalis, Edema, Perica... OMIM:212065
7Q11.23 Microduplication Syndrome
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Atrial septal defect... ORPHA:96121
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis OMIM:300857
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation OMIM:613089
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Hyperlordosis, Respiratory tract infection, Atelectasis, Respira... ORPHA:365
Cholestasis, Progressive Familial Intrahepatic, 5
Pleural effusion, Ascites, Nonimmune hydrops fetalis OMIM:617049
Noonan Syndrome 9
Hydroureter OMIM:616559
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Brachydactyly, Short stature, Hyperlordosis, Short neck... ORPHA:710
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Flared metaphysis, Gingival overgrowth, Respiratory failure, Stillbirth, Long phil... OMIM:259720
Chromosome 2P16.1-P15 Deletion Syndrome
High, narrow palate, Micropenis, High palate, Hydronephrosis OMIM:612513
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Shwachman-Diamond Syndrome 1
Hepatomegaly, Anterior rib cupping, Metaphyseal sclerosis, Enlargement of the costochondral junct... OMIM:260400
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Pyloric stenosis, Cleft palate, Narrow palate, High palate, V... OMIM:610443
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Abnormality of the pulmonary artery ORPHA:363618
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Aganglionic megacolon, Abnormality of th... ORPHA:847
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Thickened ribs, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper r... OMIM:252930
Lower Urinary Tract Obstruction, Congenital
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... OMIM:618612
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Short neck, Abnormality of the dentition,... ORPHA:178303
Gabriele-De Vries Syndrome
Hallux valgus, Sandal gap, Oral-pharyngeal dysphagia, Esophageal atresia, High palate, Finger joi... ORPHA:506358
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema ORPHA:542323
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Finger syndactyly, Arach... ORPHA:193
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhin... OMIM:244400
White-Kernohan Syndrome
Hydroureter, Horseshoe kidney, Anteriorly placed anus, Gastroesophageal reflux, Rectovaginal fist... OMIM:619426
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Thick vermilion border, Nonimmune hydrops fetalis, Palpebral edema, Lymphedema OMIM:137940
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal dysmotility, Cleft palate, Furrowed t... ORPHA:453499
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anal stenosis, Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Conge... ORPHA:280633
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... ORPHA:209905
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:273395
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Diaphanospondylodysostosis
Pulmonary hypoplasia OMIM:608022
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Short neck, Hypopla... ORPHA:93333
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Short stature, Femoral retroversion, Kyphosis, Macroglossia, Scoliosis ORPHA:79107
Musculocontractural Ehlers-Danlos Syndrome
Functional abnormality of the bladder, Malrotation of small bowel, Nephrolithiasis, Horseshoe kid... ORPHA:2953
Peroxisome Biogenesis Disorder 1A (Zellweger)
Patent ductus arteriosus, Ventricular septal defect, Pulmonary hypoplasia OMIM:214100
Capillary Malformation-Arteriovenous Malformation
Nonimmune hydrops fetalis, Lymphedema, Hydrocephalus, Abnormal heart morphology, Chylothorax ORPHA:137667
Cleft Soft Palate
Cleft soft palate OMIM:119570
Vici Syndrome
Recurrent respiratory infections, Ureteral atresia, Gray matter heterotopia, Renal tubular acidos... ORPHA:1493
Thoracic Outlet Syndrome
Abnormal rib morphology, Edema ORPHA:97330
Ulnar-Mammary Syndrome
Abnormal clavicle morphology, Abnormal morphology of the radius, Hypoplasia of penis, Camptodacty... ORPHA:3138
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Abnormal rib morphology ORPHA:2234
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Adenoiditis, Cardiomegaly, Flexion contracture, Atrioventricular bl... ORPHA:581
Catel-Manzke Syndrome
Single transverse palmar crease, Pectus carinatum, Glossoptosis, High palate, Clinodactyly of the... OMIM:616145
Maternal Uniparental Disomy Of Chromosome 2
Contractures of the large joints, Respiratory infections in early life, Pulmonary hypoplasia ORPHA:96179
Hyperphosphatasia-Intellectual Disability Syndrome
Aganglionic megacolon, Anteriorly placed anus, Hydronephrosis, High palate, Bifid uvula ORPHA:247262
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Patent ductus arteriosus, Thoracic aortic aneurysm, Pulmonary hypoplasia OMIM:619351
Gaucher Disease
Joint dislocation, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericard... ORPHA:355
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Respiratory failure ORPHA:3226
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Overlapping toe, Apnea, Hip dislocation, Respiratory failure OMIM:617301
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, High pa... DECIPHER:81
14Q11.2 Microdeletion Syndrome
Ventricular septal defect ORPHA:261120
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Impaired tandem gait, Polyminimyoclonus, Fasciculations, Vocal cord paresis OMIM:619574
Bardet-Biedl Syndrome 8
Postaxial polydactyly OMIM:615985
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate, Short distal phalanx of finger OMIM:609166
Raine Syndrome
Hydroureter, Protruding tongue, Cleft palate, High palate, Neonatal death, Hydronephrosis OMIM:259775
Early Infantile Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Tremor, Focal-onset... ORPHA:1934
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anteriorly placed anus, High palate, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephr... OMIM:618653
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Zollinger-El... ORPHA:100078
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Multiple Acyl-Coa Dehydrogenase Deficiency
Hyperlordosis, Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respiratory fai... ORPHA:26791
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Seizure, Truncal a... OMIM:105210
Codas Syndrome
Short metacarpal, Congenital hip dislocation, Hydroureter, Abnormal pelvic girdle bone morphology... ORPHA:1458
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries OMIM:231060
Tempi Syndrome
Intracranial hemorrhage, Transudative pleural effusion, Abnormality of the pulmonary vasculature ORPHA:284227
Trigonocephaly With Short Stature And Developmental Delay
Inguinal hernia, Ventricular septal defect OMIM:314320
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Ataxia, Tremor, Delayed myelination, Seizure, Myoclonus, Gait imbalance ORPHA:98794
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Respiratory failure, Short ribs, Pulmonar... OMIM:615636
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia ORPHA:683
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Hydrocephalus, Leukodystrophy OMIM:616538
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Esophageal Atresia
Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Coarctation of aorta, Pu... ORPHA:1199
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Tremor, Inability to walk, Babinski sign, Tongue tremor, Diaphra... ORPHA:466768
Congenital Sialidosis Type 2
Protruding tongue, Hydrocephalus, Gingival overgrowth, Polydactyly, Umbilical hernia ORPHA:93400
Distal Deletion 12Q
Ectopic kidney, High, narrow palate, Esophageal atresia, Pyloric stenosis, Microglossia, Congenit... ORPHA:96149
Classic Phenylketonuria
Tremor, Paraplegia, Seizure, Hypertonia, Hemiplegia ORPHA:79254
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Glossoptosis, Meningocele ORPHA:2031
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis OMIM:620327
Lymphatic Malformation 5
Facial edema, Predominantly lower limb lymphedema, Cleft palate OMIM:153200
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Fused cervical verteb... OMIM:619227
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal lung lobation, Truncus arteriosus, Ventricular septal defect ORPHA:2516
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism ORPHA:178509
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Tremor, Inability to w... OMIM:617988
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Hypoplasia... OMIM:614099
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies OMIM:307500
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the lungs, Multiple joint contractures, Camptodactyly of finger, Abnormal p... ORPHA:2570
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Inguinal hernia, Ventricular septal defect ORPHA:3369
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Hiatus hernia, Recurrent upper respiratory tract infections, Recurrent... OMIM:619769
Aymé-Gripp Syndrome
Pericarditis, Inguinal hernia, Congenital diaphragmatic hernia, Pericardial effusion, Camptodactyly ORPHA:1272
Stankiewicz-Isidor Syndrome
Ureteral duplication, Micropenis, Hypospadias OMIM:617516
Sotos Syndrome
Hip contracture, Ureteral duplication, Renal insufficiency, Aganglionic megacolon, Hypospadias, A... ORPHA:821
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Postaxial polydactyly, Tapered finger, Abnormality of the dentition, Small hand, Hip dislocation,... OMIM:300968
Niemann-Pick Disease Type C
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Leuk... ORPHA:646
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, Ankyloglossia, High palate, Hydronephrosis ORPHA:250989
Wars2-Related Combined Oxidative Phosphorylation Defect
Multifocal seizures, Ataxia, Tremor, Delayed myelination, Spastic tetraplegia, Dysmetria, Seizure... ORPHA:572798
Tetrasomy 9P
Myositis, Short neck, Micrognathia, Clinodactyly of the 5th finger, Intrauterine growth retardati... ORPHA:3310
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Neurogenic bladder, Protruding tongue, Splenomegaly, Gastroesophageal reflux, Hydro... OMIM:608779
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... ORPHA:2519
X-Linked Dominant Chondrodysplasia Punctata
High palate, Hydronephrosis ORPHA:35173
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Recurrent respiratory infections, Cleft soft palate, Short neck, Hypoxemia, Submucous cleft soft ... ORPHA:2282
Atelosteogenesis Type I
Pulmonary hypoplasia ORPHA:1190
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Abnormal dental enamel morphology, Aplastic clavicle, Abnormal metacarpal morp... ORPHA:2658
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Postaxial hand polydactyl... ORPHA:2752
Isolated Posterior Meningocele
Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia,... ORPHA:268810
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... ORPHA:401935
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Mandibular prognathia, Wide nasal bridge, Genu valgum, Joint hyperflexibility, Hypoplasia of the ... ORPHA:1778
Larsen Syndrome
Short metacarpal, Spatulate thumbs, Cleft upper lip, Elbow dislocation, Pectus excavatum, Spinal ... OMIM:150250
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Pleural effusion, Pulmonic stenosis, Left ventri... OMIM:615355
Holoprosencephaly 3
Bifid uvula, Hydronephrosis, Cleft palate OMIM:142945
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Duplicated collecting system, Hydroureter, Renal agenesis, Absence of Stensen duct, Xerostomia, C... OMIM:129900
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Ataxia, Poor motor coordination, Infantile spasms, Tremor, Rigidity, Chorea, Seizure, A... ORPHA:25
Gaucher Disease Type 3
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... ORPHA:77261
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance ORPHA:83629
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Ureteral duplication, High, narrow palate ORPHA:457212
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Charge Syndrome
Polyhydramnios, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Holoprosencephaly,... ORPHA:138
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Decreased fetal movement, Single transverse ... OMIM:247200
Spondylodysplastic Ehlers-Danlos Syndrome
Atrial septal defect, Inguinal hernia, Multiple joint contractures, Abnormal heart valve morpholo... ORPHA:536471
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Flexion contracture, Ventricular septal defect, Interphalangeal thumb joint... OMIM:613870
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Cardiomegaly, Cleft palate, Hydronephrosis, Bifid uvula OMIM:614921
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:619189
Diamond-Blackfan Anemia
Ventricular septal defect, Cleft soft palate, Nonimmune hydrops fetalis, Absent thumb, Cleft lip,... ORPHA:124
Acrocephalopolydactylous Dysplasia
Omphalocele, Pulmonary hypoplasia, Extrapulmonary sequestrum OMIM:200995
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim... ORPHA:48818
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Congenital Disorder Of Glycosylation, Type Iim
Vesicovaginal fistula, High palate, Gastroesophageal reflux, Intrauterine growth retardation, Ure... OMIM:300896
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Sacral dimple, Polyhydramnios, Tapered finger, Intraven... OMIM:613603
Periventricular Nodular Heterotopia
Pyloric stenosis, Shoulder dislocation, Gastroesophageal reflux, Periventricular heterotopia ORPHA:98892
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiva, Orofacial cleft... ORPHA:2753
Oculocerebrorenal Syndrome Of Lowe
Dental crowding, Deep philtrum, Gingivitis, Periodontitis, Death in infancy, Abnormal dental enam... ORPHA:534
Mullegama-Klein-Martinez Syndrome
Apical muscular ventricular septal defect, Hypoplastic left heart, Facial palsy, Congenital diaph... OMIM:301022
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Hypersplenism, Splenomegaly, Esophageal varix, Gastric varix, Hepato... ORPHA:64743
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic aciduria, Bell-shaped thorax, Gastroesophageal reflux, Homocystinuria, Horizontal ribs OMIM:614857
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly, Hydrops fetalis OMIM:224120
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Recurrent respiratory infections, Anal stenosis, Short neck, ... ORPHA:647
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:617044
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Al-Gazali Syndrome
Hydronephrosis OMIM:609465
Milroy Disease
Varicose veins, Abnormal venous morphology ORPHA:79452
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Thoracic scoliosis, Postaxial polydactyly OMIM:603387
Joubert Syndrome 39
Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... ORPHA:1071
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Pyloric stenosis, Renal cyst, Gastroesophageal reflux, Mi... ORPHA:464306
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign... ORPHA:99027
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Renal agenesis, Hypospadias, Protruding tongue, Macroglossia, Gastroesophageal reflux, Micropenis... OMIM:301040
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria, Dysphagia ORPHA:101000
Necrotizing Enterocolitis
Shock, Edema, Abnormal heart morphology, Bradycardia, Hypotension, Gastroschisis, Ascites ORPHA:391673
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Seizure, Lower limb hypertoni... ORPHA:447753
Meier-Gorlin Syndrome 7
Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect, Pulmonar... OMIM:617063
Craniofrontonasal Syndrome
Umbilical hernia, Congenital diaphragmatic hernia OMIM:304110
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:2995
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Short neck, Cl... OMIM:300990
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal myelination, Dystonia, Rigidity, Bradykinesia, Poor fine motor coordination, Dysdiadocho... ORPHA:309854
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postaxial polydactyly, Polyhydramnios, Abnormal thorax morphology, Epiphyseal stippli... OMIM:302960
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Micropenis, Abnormality of the urinary system, Hydronephrosis ORPHA:96092
Desbuquois Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... ORPHA:1425
Congenital Disorder Of Glycosylation, Type Iil
Postaxial polydactyly, Hydrocephalus, Esophageal varix, Hip dysplasia, Inflammation of the large ... OMIM:614576
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Hydronephrosis OMIM:613001
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Minimal change glomerulonephritis, Respiratory tract infection, Facial ed... ORPHA:567546
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, High palate, Hydronephrosis, Dysphagia ORPHA:261349
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Tyrosinemia Type 2
Tremor, Seizure, Ataxia ORPHA:28378
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Delayed CNS myelination, Thin upper lip vermilion, Short neck, Microdontia, Kyph... OMIM:619194
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... ORPHA:93317
Apert Syndrome
Esophageal atresia, Pyloric stenosis, Narrow palate, Cleft palate, Hydronephrosis, Ectopic anus, ... OMIM:101200
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Fontaine Progeroid Syndrome
Atrial septal defect, Prominent superficial veins, Bicuspid aortic valve, Patent ductus arteriosu... OMIM:612289
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Renal cyst, Gastroesophageal reflux, Micropenis, Pelvic k... ORPHA:464311
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect, Cleft palate OMIM:243440
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Premature rupture of membranes, Oligodontia, Widely spaced teeth, Short 4th ... OMIM:615873
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Anteverted nares, Choanal atresia, Depressed nasal bridge, Craniosynostosis, Hydrocephalus, Hyper... ORPHA:1555
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d... ORPHA:2907
Osteogenesis Imperfecta, Type Vii
Absent pulmonary artery, Hypoplastic pulmonary veins OMIM:610682
Metachromatic Leukodystrophy
Urinary incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum... ORPHA:512
Craniofacial Microsomia 1
Occipital encephalocele, Block vertebrae, Hypoplasia of facial musculature, Ventricular septal de... OMIM:164210
Multifocal Atrial Tachycardia
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... ORPHA:3282
Limb-Mammary Syndrome
Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger... ORPHA:69085
Chand Syndrome
Short fifth metatarsal, Atelectasis, Cleft palate, Agenesis of permanent teeth, Abnormal oral fre... ORPHA:1401
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, P... ORPHA:93111
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Peters Plus Syndrome
Patent ductus arteriosus, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Abnormal ... ORPHA:709
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Tremor, Seizure, Status epilepticus, Myoclonus, Loss of ambulation, Right hemiplegia OMIM:607426
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Splenomegaly, Joint swelling, Pulmonary fibrosis, Flaring of rib cage, Broad ribs OMIM:612852
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventricular septal defect OMIM:613730
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Timothy Syndrome
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Tetralogy of Fallot, Patent foram... OMIM:601005
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Recurrent pneumonia, Abnormal heart morphology,... ORPHA:500159
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Griscelli Syndrome
Encephalocele, Hepatomegaly, Splenomegaly, Pyloric stenosis, Pedal edema, Lymphadenopathy, Bone m... ORPHA:381
Carpenter Syndrome 2
Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Pectus car... OMIM:614976
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hepatic arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformati... OMIM:187300
Bardet-Biedl Syndrome 1
Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, P... OMIM:209900
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnor... ORPHA:667
Cockayne Syndrome Type 3
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Sp... ORPHA:90324
Perlman Syndrome
Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia OMIM:267000
Double Outlet Right Ventricle
Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Cleft palate, Narrow mouth, Pulmo... ORPHA:3426
Achondroplasia
Pulmonary hypoplasia OMIM:100800
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect, Bronchiectasis OMIM:620184
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency, Equinus calcaneus ORPHA:746
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Cupped ribs, High palate, Short ribs ORPHA:1145
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Tented upper lip vermilion, Rocker bottom foot, Single transverse palmar crease, Postaxial polyda... OMIM:617527
Popliteal Pterygium Syndrome
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta... OMIM:119500
Prolidase Deficiency
Arachnodactyly, Depressed nasal bridge, Micrognathia, Carious teeth, Depressed nasal ridge, Genu ... ORPHA:742
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the lungs, Atrioventricular canal defect ORPHA:2549
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Renal Agenesis, Bilateral
Pulmonary hypoplasia ORPHA:1848
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Meier-Gorlin Syndrome 5
Irregular femoral epiphysis, Patellar aplasia, Submucous cleft hard palate, Slender long bone, Th... OMIM:613805
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Perimem... OMIM:600987
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... OMIM:617201
Burn-Mckeown Syndrome
Atrial septal defect, Inguinal hernia, Ventricular septal defect, Hypomimic face OMIM:608572
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, High, narrow palate, Cleft palate, Furrowed tongue, Male urethral meatus stenosis, H... ORPHA:464738
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Pectus... OMIM:263750
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Boutonneuse Fever
Respiratory failure ORPHA:83313
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Dysdiadochokinesis, Difficulty walking... OMIM:617675
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint laxity, Inguinal hernia, Congenital hip dislocation, Arachnodactyly, Protrusio ... OMIM:225400
Knobloch Syndrome 1
Duplicated collecting system, Pyloric stenosis, Bifid ureter, Hydronephrosis, Renal duplication OMIM:267750
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Takenouchi-Kosaki Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis OMIM:616737
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Cleft soft palate, Smooth philtrum, Adducted thumb ORPHA:293725
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Thick vermilion bord... OMIM:618106
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect OMIM:263630
Faciocardiomelic Syndrome
Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis, Narrow chest... OMIM:612731
Pearson Syndrome
Hydrops fetalis, Dehydration, Abnormal heart morphology, Corneal stromal edema, Cardiomyopathy, S... ORPHA:699
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect OMIM:618974
Poliomyelitis
Paralytic ileus, Respiratory failure requiring assisted ventilation, Respiratory failure, Myelitis ORPHA:2912
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Abnormality of the knee, Edema, Cardiomegaly, Pericardial effusion, Poly... ORPHA:51608
Adnp Syndrome
Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe... ORPHA:404448
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia ORPHA:2617
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Natal tooth, Broad hallux, Hamartoma of tongue, Cleft lip, Postaxial han... OMIM:615948
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Ventricular septal defect OMIM:620210
Holoprosencephaly 13, X-Linked
Median cleft lip, Alobar holoprosencephaly, Vertebral clefting, Submucous cleft hard palate, Clef... OMIM:301043
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hydrops fetalis OMIM:613673
Thanatophoric Dysplasia Type 1
Atrial septal defect, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs ORPHA:1860
Focal Dermal Hypoplasia
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly placed anus, Oligod... OMIM:305600
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Recurrent pneumonia, Ventricular septal defect OMIM:616651
Galactosialidosis
Nonimmune hydrops fetalis OMIM:256540
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Tapered finger, Submucous cleft hard palate, Downturned corners of mout... OMIM:619680
Nijmegen Breakage Syndrome
Anal stenosis, Recurrent urinary tract infections, Cleft palate, Recurrent infection of the gastr... OMIM:251260
Grange Syndrome
Ventricular septal defect ORPHA:79094
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Overriding aorta, Prominent nasal bridge, Carious teeth, Hypoplasia of the... ORPHA:1110
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Submucous cleft hard pala... ORPHA:457279
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Recurrent urinary tract infections, Perianal abscess, Splenomegaly, Urachus fistula... OMIM:612541
Bloom Syndrome
Pneumonia, Bronchitis, Respiratory tract infection, Esophageal neoplasm, Chronic pulmonary obstru... ORPHA:125
Malignant Atrophic Papulosis
Intestinal perforation, Intestinal fistula, Pleural effusion, Respiratory failure ORPHA:679
Eec Syndrome
Hypospadias, Renal hypoplasia/aplasia, Xerostomia, Cleft palate, Urethral atresia, Vesicoureteral... ORPHA:1896
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Macroglossia, Arthrogryposis-like hand anom... ORPHA:369891
Kindler Epidermolysis Bullosa
Urethral stricture, Finger syndactyly, Camptodactyly of finger, Phimosis, Esophageal stricture, A... ORPHA:2908
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Prominent interphalangeal joints, Clinodactyly of the 5th finger... OMIM:135900
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Situs inversus totalis OMIM:249270
Microphthalmia With Linear Skin Defects Syndrome
Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitra... ORPHA:2556
Culler-Jones Syndrome
Cleft palate, Postaxial polydactyly, Cleft upper lip OMIM:615849
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Di... ORPHA:477817
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... ORPHA:216694
Mend Syndrome
Broad hallux, Overlapping toe, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Polydactyly, High... OMIM:300960
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
High palate, Deep philtrum, Tented upper lip vermilion, Polydactyly ORPHA:314655
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Chromosome 5Q12 Deletion Syndrome
Atrial septal defect, Macroglossia, Ventricular septal defect, Patent foramen ovale OMIM:615668
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Femoral retroversion, Kyphoscoliosis OMIM:607371
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... OMIM:612561
Flat Face-Microstomia-Ear Anomaly Syndrome
Inguinal hernia, Camptodactyly of finger, Micrognathia, Long nose, Underdeveloped nasal alae, Wid... ORPHA:1968
Loeys-Dietz Syndrome 2
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Eosinophilic infiltration... OMIM:610168
Intellectual Developmental Disorder, Autosomal Dominant 48
Umbilical hernia, Ventricular septal defect, Recurrent pneumonia, Bicuspid aortic valve OMIM:617751
Cardiofaciocutaneous Syndrome 1
Splenomegaly, Submucous cleft hard palate, High palate, Gastroesophageal reflux, Hydronephrosis OMIM:115150
Alternating Hemiplegia Of Childhood
Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal p... ORPHA:2131
Costello Syndrome
Hyperextensibility of the finger joints, Short neck, Pyloric stenosis, Hydrocephalus, Pneumothora... OMIM:218040
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Breech presentation, Postaxial polydactyly, Oligohydramnios OMIM:615824
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Dystonia, Infantile spasms, Action tremor, Inability to walk, Delayed myelination, Chorea, Oculom... ORPHA:404454
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Malabsorption, Hydrops fetalis, Dehydration, Steatorrhea OMIM:557000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive gait ataxia, Head ... OMIM:606002
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Postaxial polydactyly, Pectus excavatum, Hydrocephalus, Hip dysplasia, Clinodactyly... ORPHA:457284
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:49827
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, U... OMIM:192430
Williams Syndrome
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Micrognathia, Periorbital edema, Cardio... ORPHA:904
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Walker-Warburg Syndrome
Hydrocephalus, Submucous cleft hard palate, Cleft palate, Metatarsus valgus, Bifid uvula ORPHA:899
Trisomy 8P
Fetal pyelectasis, Malrotation of small bowel, Cleft palate, Nephrocalcinosis, Bifid uvula, Micro... ORPHA:264450
Brachydactyly, Type B1
Joint contracture of the hand, Ventricular septal defect, Camptodactyly OMIM:113000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... OMIM:210710
Congenital Rubella Syndrome
Atrial septal defect, Abnormality of the pulmonary artery, Ventricular septal defect ORPHA:290
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis OMIM:602522
Pyruvate Kinase Deficiency Of Red Cells
Nonimmune hydrops fetalis OMIM:266200
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi... ORPHA:352665
Contractural Arachnodactyly, Congenital
Hip contracture, Bicuspid aortic valve, Ventricular septal defect, Elbow flexion contracture, Kne... OMIM:121050
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Ureterocele OMIM:614863
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Umbilica... ORPHA:329224
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, Patent foramen ovale,... OMIM:619127
Distal 22Q11.2 Microdeletion Syndrome
Recurrent respiratory infections, Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sanda... ORPHA:261330
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Long clavicles, Overlapping toe, Arachnodactyly, Inguinal hernia, Micrognathia, Un... ORPHA:83617
Autoimmune Lymphoproliferative Syndrome
Gastritis, Hydrops fetalis, Arthritis, Colitis, Recurrent aphthous stomatitis, Neoplasm of the to... ORPHA:3261
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Urolithiasis, Hyperuricosuria, High palate, Uric acid nephrolit... OMIM:300661
Knobloch Syndrome
Vesicoureteral reflux, Pyloric stenosis, Bifid ureter ORPHA:1571
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Tongue fasciculations, L... OMIM:252010
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Apnea, Dental crowding, De... OMIM:619503
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Median cleft lip and palate, Bilateral cleft lip, Aloba... OMIM:610828
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:610505
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Keutel Syndrome
Recurrent respiratory infections, Pulmonary artery stenosis, Ventricular septal defect, Recurrent... ORPHA:85202
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Sacral dimple, Cleft soft palate, Tapered finger, Abnormal toe morphology, Kyphosi... ORPHA:268261
Pyruvate Dehydrogenase E1-Alpha Deficiency
Flexion contracture, Ventricular septal defect, Recurrent aspiration pneumonia ORPHA:79243
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Charge Syndrome
Polyhydramnios, Micrognathia, Secundum atrial septal defect, Hemivertebrae, Hand monodactyly, Hol... OMIM:214800
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol... ORPHA:284169
Lymphedema-Distichiasis Syndrome
Varicose veins, Patent ductus arteriosus, Abnormality of the pulmonary vasculature ORPHA:33001
Monosomy 18Q
Arachnodactyly, Kyphoscoliosis, Tapered finger, Hydrocephalus, Downturned corners of mouth, Wide ... ORPHA:1600
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Leukodystrophy ORPHA:506
Secondary Short Bowel Syndrome
Growth delay, Gastroschisis, Dehydration ORPHA:95427
Neurocutaneous Melanocytosis
Meningocele, Syringomyelia ORPHA:2481
Opitz-Kaveggia Syndrome
Syndactyly, Anal stenosis, Broad hallux, Intestinal malrotation, Hypospadias, Pyloric stenosis, S... OMIM:305450
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Vertebral clefting, Neonatal death, Abnormal vertebral morphology, Anal at... OMIM:615709
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hernia ORPHA:3306
Alagille Syndrome 1
Duplicated collecting system, Hypoplasia of the ulna, Multiple small medullary renal cysts, Abnor... OMIM:118450
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Craniofacioskeletal Syndrome
Hypospadias, Hydronephrosis, Cleft palate OMIM:300712
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Hepatomegaly, Heparan sulfate excretion... OMIM:252940
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Ba... ORPHA:99095
Oculoauriculofrontonasal Syndrome
Pericallosal lipoma, Ventricular septal defect ORPHA:398156
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Submucous cleft hard palate, Thick lower lip vermilion, Wide mouth, Unilateral cleft lip, Unilate... OMIM:619103
Hereditary Elliptocytosis
Hydrops fetalis ORPHA:288
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Hepatoblastoma, Oliguria, Hepatosplenomegaly, Reduced renal corticome... ORPHA:731
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... ORPHA:51636
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hepatic arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformati... OMIM:600376
Noonan Syndrome 7
Pectus excavatum, Pectus carinatum, Shield chest, Dysphagia, Impaired oropharyngeal swallow respo... OMIM:613706
Ataxia-Telangiectasia
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Seizure, Progressive cerebell... OMIM:208900
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, L... OMIM:612199
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Monosomy 22Q13.3
Hydronephrosis, Gastroesophageal reflux, Vesicoureteral reflux, Recurrent pyelonephritis, Renal d... ORPHA:48652
Filippi Syndrome
Ventricular septal defect OMIM:272440
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Dental crowding, Kyphoscoliosis, Kyphosis, High, narrow palate, Narrow mouth, Wide... OMIM:300967
Townes-Brocks Syndrome
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Vesicoureteral ... ORPHA:857
Braddock-Carey Syndrome 1
Enamel hypoplasia, Aortic valve prolapse, Ventricular septal defect, Camptodactyly OMIM:619980
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, Lymphedema, R... ORPHA:99413
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hamartoma of tongue, Cleft palate... ORPHA:2750
Mosaic Monosomy X
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, Lymphedema, R... ORPHA:99228
Monosomy X
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, Lymphedema, R... ORPHA:99226
Turner Syndrome
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Micrognathia, Lymphedema, R... ORPHA:881
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Ventricular septal defect, Limb hypertonia OMIM:619909
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
Severe X-Linked Intellectual Disability, Gustavson Type
Contractures of the large joints, Recurrent upper respiratory tract infections, Ventricular septa... ORPHA:3078
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Lissencephaly, Thin ribs OMIM:614833
Hemorrhagic Fever-Renal Syndrome
Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleur... ORPHA:340
15Q14 Microdeletion Syndrome
Atrial septal defect, Inguinal hernia, Ventricular septal defect ORPHA:261190
Meckel Syndrome
Accessory spleen, Ureteral duplication, Bowing of the long bones, Multicystic kidney dysplasia, E... ORPHA:564
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Toe syndactyly, Hydroureter, Proximal placement of thumb, Small hand, Cleft palate, Short foot, S... OMIM:610759
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Erdheim-Chester Disease
Hydronephrosis, Renal insufficiency, Dysuria ORPHA:35687
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Micropenis, Hypospadias, Hydronephrosis, Cleft palate ORPHA:163979
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Tremor, Unsteady gait, A... OMIM:614947
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... OMIM:601104
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Cleft palate, Nephrotic syndrome, High palate, Abnormal du... OMIM:601776
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, High pala... ORPHA:2785
Barrett Esophagus
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux OMIM:614266
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Jacobsen Syndrome
Recurrent respiratory infections, Hypospadias, Missing ribs, Pectus excavatum, Pyloric stenosis, ... OMIM:147791
Reynolds Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Xerostomia, Gastroesophageal reflux, Dysphagia,... ORPHA:779
Pontocerebellar Hypoplasia, Type 8
Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale OMIM:614961
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Recurrent pneumonia, Mitral valve prolapse, Aortic dissection, Arterial dissection, Abnormal veno... ORPHA:1900
3Mc Syndrome 1
Hydronephrosis, Cleft palate OMIM:257920
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect ORPHA:75389
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Ventricular septal defect, Camptodactyly OMIM:301039
Dpagt1-Cdg
Intracranial hemorrhage, Pulmonary hypoplasia, Stroke-like episode ORPHA:86309
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Celiac disease, Dilatation of the renal pelvis, Stage 5 chronic kidn... ORPHA:2044
Spondylo-Ocular Syndrome
Ventricular septal defect, Facial hypotonia ORPHA:85194
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Exercise-induced rhabdomyolysis, Ventricular septal defect, Pneumonia, Pericardial effusion, Dila... ORPHA:26793
Ogden Syndrome
Pulmonary artery stenosis, Torticollis, Ventricular septal defect, Inguinal hernia ORPHA:276432
Kindler Syndrome
Anal stenosis, Esophageal stenosis, Phimosis, Urethral stenosis, Dysphagia, Oral leukoplakia OMIM:173650
Chronic Granulomatous Disease
Hepatomegaly, Recurrent respiratory infections, Malabsorption, Splenomegaly, Pyloric stenosis, Me... ORPHA:379
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Flexion contracture, Ventricular septal defect OMIM:617452
Woods Syndrome
Ventricular septal defect OMIM:615236
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Congenital hip dislocation, Abnormal periodontium morphology, High palate, Tapered finger, Gingiv... ORPHA:480880
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Umbilical hernia, Ventricular septal defect OMIM:615879
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Umbilical hernia, Atlantoaxial instability, Cleft soft palate, Kyphoscoliosis OMIM:614557
Dubowitz Syndrome
Delayed eruption of teeth, Syndactyly, Sacral dimple, Carious teeth, Velopharyngeal insufficiency... OMIM:223370
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Atrial septal defect, Ventricular septal defect, Scapular winging, Patent foramen ovale OMIM:618870
Chime Syndrome
Hydronephrosis, Abnormality of the kidney, Cleft palate ORPHA:3474
Costello Syndrome
Ventricular septal defect, Abnormal dental enamel morphology, Mitral valve prolapse, Macroglossia... ORPHA:3071
Listeriosis
Back pain, Respiratory distress, Miscarriage, Pneumonia, Respiratory failure ORPHA:533
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hypospadias, Intestinal malrotation, Nephrolithiasis, Narrow ... ORPHA:353281
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Oculomotor apraxia, Abnormal myelination ORPHA:67045
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Patent urachus, Death in childhood OMIM:618252
Rabson-Mendenhall Syndrome
Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia... ORPHA:769
Wiedemann-Rautenstrauch Syndrome
Hypoplastic vertebral bodies, Downturned corners of mouth, Short philtrum, Leukodystrophy, Premat... ORPHA:3455
Ablepharon Macrostomia Syndrome
Omphalocele, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, U... ORPHA:920
Coccidioidomycosis
Renal insufficiency, Abnormality of the kidney, Pneumonia, Abnormality of the spleen, Mediastinal... ORPHA:228123
C Syndrome
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia ORPHA:1308
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex congenita, Patent foram... OMIM:208085
Beck-Fahrner Syndrome
Ventricular septal defect, Facial hypotonia, Cardiomegaly OMIM:618798
Cornelia De Lange Syndrome
Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:199
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia OMIM:146500
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Ventricular septal defect, Limb joint contracture ORPHA:505237
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve OMIM:618027
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Patent fo... OMIM:612582
Tyshchenko Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Abetalipoproteinemia
Respiratory failure, Fat malabsorption, Kyphoscoliosis, Steatorrhea ORPHA:14
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hypertrophy OMIM:613404
Mesomelia-Synostoses Syndrome
Hydronephrosis, Absent uvula OMIM:600383
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Polyhydramnios, High palate, Cervical cord compression, Syndactyly, Broad hallux... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Polyhydramnios, High palate, Cervical cord compression, Syndactyly, Broad hallux... ORPHA:353277
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Microphthalmia, Syndromic 1
Syndactyly, Hydroureter, Aganglionic megacolon, Down-sloping shoulders, Hypospadias, Renal hypopl... OMIM:309800
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Inguinal hernia, Ventricular septal defect, Elbow contracture, Elbow flexion con... OMIM:178110
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... OMIM:149730
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Cleft soft palate, Hydrocephalus, Genu valgum, Downturned corners of mout... OMIM:619321
Distal Deletion 19P
Vaginal hernia, Ventricular septal defect, Keloids, Tricuspid valve prolapse, Umbilical hernia, P... ORPHA:96129
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Esophageal stricture, Abnormal esophagus morphology, Dysphagia OMIM:226600
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Arachnodactyly, Cardiomegaly, Pectus excavatum, Thin metatarsal cortices, Thin ribs, Slender long... ORPHA:2463
Skraban-Deardorff Syndrome
Ventricular septal defect OMIM:617616
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Camptodactyly of finger, Pulmonary artery hypoplasia, Camptodactyly, A... OMIM:300963
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Inguinal hernia, Absence of the pulmonary valve, Ventricular se... OMIM:601808
Degcags Syndrome
Polyhydramnios, Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, High palate, Gastroesophag... OMIM:619488
Hepatoerythropoietic Porphyria
Abnormality of the amniotic fluid, Erythrodontia, Nonimmune hydrops fetalis, Edema ORPHA:95159
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis,... ORPHA:3427
Osteogenesis Imperfecta, Type Xv
Thin ribs OMIM:615220
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Broad hallux, Sandal gap, Persistence of primary teeth, 2-3 toe cutane... OMIM:300166
Frontometaphyseal Dysplasia 2
Hip contracture, Short metacarpal, Congenital hip dislocation, Neurogenic bladder, Pectus excavat... OMIM:617137
Genitopatellar Syndrome
Multicystic kidney dysplasia, Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, ... OMIM:606170
Noonan Syndrome 10
Atrial septal defect, Ventricular septal defect, Mitral valve prolapse, Hypertrophic cardiomyopat... OMIM:616564
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Ventricular septal defect, Lipodystrophy, Atrial septal defe... OMIM:270450
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Intestinal malrotation, Cleft palate, Gastroesophageal reflux... OMIM:616268
Ulnar-Mammary Syndrome
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... OMIM:181450
Pancreatic Agenesis-Holoprosencephaly Syndrome
Aplasia/Hypoplasia of the phalanges of the thumb, Abnormal external nose morphology, Hypoplasia o... ORPHA:556955
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Atrial sept... ORPHA:371428
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Flexion contracture of finger, Meningocele, Digital constriction ring, Palmoplantar keratoderma ORPHA:1010
Orofaciodigital Syndrome Type 14
Broad hallux, Deviation of the hallux, Hamartoma of tongue, Short neck, Accessory oral frenulum, ... ORPHA:434179
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Scapular winging, Ventricular septal defect OMIM:617061
Short Stature-Micrognathia Syndrome
Skeletal muscle hypertrophy, Ventricular septal defect OMIM:617164
Pallister-Killian Syndrome
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Flexion... OMIM:601803
Lethal Congenital Contracture Syndrome 5
Polyhydramnios, Thin ribs OMIM:615368
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis ORPHA:319213
Floating-Harbor Syndrome
Hypospadias, Celiac disease, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethr... OMIM:136140
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Lacrimoauriculodentodigital Syndrome
Xerostomia, Renal hypoplasia, Bifid uvula, Dysphagia, Vesicoureteral reflux, Abnormal salivary gl... ORPHA:2363
Sclerosteosis 1
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Deviation of finger, Abno... OMIM:269500
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Umbilical hernia, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:612938
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Small hypothenar eminence, Tetralogy of Fallot, Ventricular septal... OMIM:612562
Isolated Exencephaly
Polyhydramnios, Depressed nasal bridge, Holoprosencephaly, Hypoplasia of the frontal bone ORPHA:563612
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Depressed nasal bridge, Lobar holoprosencephaly, Growth delay, Hypoplasia of the zygomatic bone, ... OMIM:618500
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly OMIM:619123
Lipodystrophy, Familial Partial, Type 7
Pleural effusion, Spontaneous pneumothorax, Pulmonary arteriovenous malformation OMIM:606721
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Aganglionic megacolon, Abnormality of the kidney, Abnormality of the upper urinary t... ORPHA:2273
Digeorge Syndrome
Pilonidal sinus, Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruction, High, n... OMIM:188400
19P13.12 Microdeletion Syndrome
Atrial septal defect, Arthrogryposis multiplex congenita, Ventricular septal defect ORPHA:254346
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, Limb hypertonia OMIM:616920
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Recurrent respiratory infections, Ventricular septal defect, Congenital pulmonary ai... OMIM:243150
Chromosome 9P Deletion Syndrome
Omphalocele, Inguinal hernia, Ventricular septal defect, Perimembranous ventricular septal defect... OMIM:158170
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Tapered finger, Hip dislocation, Cleft palate, Genu valgum, Hepatosplenomegaly, Hip... OMIM:301066
Witteveen-Kolk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Contracture of the distal interphalangeal joint... OMIM:613406
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Noncommunicating hydrocephalus, Respiratory fa... ORPHA:805
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Tented upper lip vermilion, Intestinal pseudo... ORPHA:273
Verheij Syndrome
Truncus arteriosus, Ventricular septal defect OMIM:615583
Hartsfield Syndrome
Syndactyly, Wide nose, Craniosynostosis, Alobar holoprosencephaly, Lobar holoprosencephaly, Growt... OMIM:615465
Zygomycosis
Sinusitis, Gastritis, Epistaxis, Atelectasis, Pneumothorax, Enterocolitis, Acute infectious pneum... ORPHA:73263
Robinow Syndrome, Autosomal Dominant 1
Narrow palate, Macroglossia, High palate, Micropenis, Bifid tongue, Short hard palate, Hydronephr... OMIM:180700
Treacher Collins Syndrome 1
Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth OMIM:154500
Chronic Graft Versus Host Disease
Phimosis, Urinary bladder inflammation, Esophageal stricture, Pneumothorax, Xerostomia, Bronchiec... ORPHA:99921
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect OMIM:615630
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology ORPHA:494344
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular... OMIM:300998
Pseudotrisomy 13 Syndrome
Omphalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atr... OMIM:264480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:615287
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Hydrolethalus Syndrome 1
Stillbirth, Hypospadias, Hydronephrosis, Cleft palate OMIM:236680
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Choanal Atresia
Polydactyly ORPHA:137914
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Tapered finger, Pectus excavatum, Long fingers, 2-3 toe syndactyly, Cleft palate, Ur... OMIM:616734
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Skeletal muscle atrophy, Hypoplastic scapulae, Short stature, Camptodactyly of fin... OMIM:256040
19P13.3 Microduplication Syndrome
Ventricular septal defect ORPHA:447980
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonic... OMIM:605275
Juvenile Polyposis Syndrome
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... ORPHA:2929
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtrum, Abnormality of the ... ORPHA:261537
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Tolchin-Le Caignec Syndrome
Arachnodactyly, Submucous cleft hard palate, High palate, Narrow mouth, Clinodactyly of the 5th f... OMIM:618971
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... OMIM:607932
Congenital Erythropoietic Porphyria
Abnormality of the amniotic fluid, Erythrodontia, Nonimmune hydrops fetalis, Edema ORPHA:79277
Bardet-Biedl Syndrome 20
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:619471
Transaldolase Deficiency
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:606003
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:609053
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Recurrent pneumonia, Rectal abscess, Cough, Pleural effusion OMIM:306400
Kapur-Toriello Syndrome
Atrial septal defect, Joint contracture of the hand, Ventricular septal defect, Camptodactyly of ... OMIM:244300
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Ventricular septal defect OMIM:220500
Cutis Laxa, Autosomal Recessive, Type Iic
Overlapping toe, Pyloric stenosis, Pneumothorax, Nephrocalcinosis, Hip dysplasia, High palate, Ca... OMIM:617402
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... ORPHA:2250
Holt-Oram Syndrome
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the pectoralis major muscle,... OMIM:142900
Transketolase Deficiency
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:488618
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Ventricular septal defect, Camptodactyly OMIM:617360
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Aortic valve atresia, Double outlet right ventr... ORPHA:2299
Fraser Syndrome
Omphalocele, Umbilical hernia, Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2052
Mosaic Variegated Aneuploidy Syndrome 2
Atrial septal defect, Abnormal lung lobation, Ventricular septal defect, Subvalvular aortic stenosis OMIM:614114
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Cranium bifidum occultum, Shor... OMIM:229400
Liver Disease, Severe Congenital
Chronic gastritis, Recurrent urinary tract infections, Hepatomegaly, Hypospadias, Cardiomegaly, S... OMIM:619991
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Esophageal stricture, Gastroesophageal reflux, Dysphagia, Anky... ORPHA:89842
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Cleft palate, Narrow palate, Nephrocalcinosis,... ORPHA:79500
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Relapsing Polychondritis
Dyspnea, Atelectasis, Anteriorly placed anus, Recurrent aphthous stomatitis, Cough, Abnormal patt... ORPHA:728
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia, Hernia ORPHA:96097
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Proximal phalangeal periosteal thickening, Gastric hypertrophy, Clubbing, Osteolytic defects of t... OMIM:161700
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Nephrolithiasis, Gastroesophageal reflux, Dysphagia, Vesicoureteral reflux, Hydronephrosis ORPHA:438213
Fanconi Anemia, Complementation Group B
Abnormal lung lobation, Ventricular septal defect OMIM:300514
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Hepatomegaly, Renal insufficiency, Splenomegaly, Dilatation of the renal pelvis, Stag... OMIM:619534
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Flexion contracture, Ventricular septal defect OMIM:309520
Methimazole Embryofetopathy
Ventricular septal defect ORPHA:1923
Dysosteosclerosis
Ventricular septal defect, Abnormal dental enamel morphology ORPHA:1782
Peters-Plus Syndrome
Ureteral duplication, Proximal placement of thumb, Polyhydramnios, Short metatarsal, Anteriorly p... OMIM:261540
Recombinant 8 Syndrome
Ventricular septal defect, Camptodactyly of finger, Pulmonary artery stenosis, Atrial septal defe... ORPHA:96167
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Polydactyly, Orofacial cleft ORPHA:17
Arima Syndrome
Postaxial hand polydactyly, Esophageal varix, Postaxial foot polydactyly, Wide mouth, Occipital m... OMIM:243910
Acrocardiofacial Syndrome
Mitral stenosis, Camptodactyly of finger, Ventricular septal defect, Atrial septal defect, Truncu... ORPHA:2008
Mowat-Wilson Syndrome
Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Widely spaced teeth, Bifid uvula, L... ORPHA:2152
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Ventricular septal defect ORPHA:217346
Radio-Tartaglia Syndrome
Ventricular septal defect OMIM:619312
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal venous morphology, Abnormal cerebral vascular morphology ORPHA:276280
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Ventricular septal defect, Recurrent aspiration pneumonia OMIM:300472
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Elbow flexion contracture, Mitr... OMIM:602782
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal renal morphology, High palate, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:363700
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Hepatomegaly, Femur fracture, Splenomegaly, Recurrent pneumonia OMIM:612301
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Inguinal hernia, Ventricular septal defect ORPHA:166035
Neuroocular Syndrome
Hyperextensibility of the finger joints, Sacral dimple, Tapered finger, Short uvula, Submucous cl... OMIM:619539
Coffin-Siris Syndrome 12
Celiac disease, Short thumb, Slender finger, Velopharyngeal insufficiency, Submucous cleft hard p... OMIM:619325
Semilobar Holoprosencephaly
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Neural... ORPHA:220386
Alobar Holoprosencephaly
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Neural... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Neural... ORPHA:93926
Lobar Holoprosencephaly
Median cleft lip, Hydrocephalus, Hip dislocation, Cleft palate, Abnormal heart morphology, Neural... ORPHA:93924
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Short philtrum, Abnormality of the ... ORPHA:261552
Johanson-Blizzard Syndrome
Colonic diverticula, Hepatomegaly, Hypospadias, Urethrovaginal fistula, Malabsorption, Splenomega... OMIM:243800
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve OMIM:616652
Char Syndrome
Ventricular septal defect ORPHA:46627
Bohring-Opitz Syndrome
Atrial septal defect, Flexion contracture, Ventricular septal defect, Camptodactyly OMIM:605039
Colonic Atresia
Omphalocele, Gastroschisis ORPHA:1198
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Beaulieu-Boycott-Innes Syndrome
Ventricular septal defect OMIM:613680
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect ORPHA:452
Holoprosencephaly 2
Alobar holoprosencephaly, Submucous cleft hard palate, Bilateral cleft lip and palate, Semilobar ... OMIM:157170
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Delayed CNS myelination, Submucous cleft hard palate OMIM:618891
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Recurrent respiratory infections, Camptodactyly of finger, Submucous cleft hard palate, Neoplasm ... ORPHA:3047
Neurocardiofaciodigital Syndrome
Syndactyly, Thin vermilion border, High palate, Polydactyly OMIM:619869
Sotos Syndrome
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect OMIM:117550
Kapur-Toriello Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect ORPHA:369929
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Recurrent respiratory infections, Short femur, Hypospadias, Pneumonia, H... OMIM:264090
Chilton-Okur-Chung Neurodevelopmental Syndrome
Patent foramen ovale, Aplasia of the right hemidiaphragm, Limb hypertonia OMIM:619841
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Ventricular septal defect, Hypoplastic right heart, Camptodactyly, Pulmonary artery ... OMIM:616894
Legius Syndrome
Clinodactyly of the 5th finger, Polydactyly, Abnormal sternum morphology, Diaphyseal dysplasia ORPHA:137605
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:617159
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:618775
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:261236
Chromosome 14Q11-Q22 Deletion Syndrome
Macroglossia, Ventricular septal defect, Patent foramen ovale, Inguinal hernia OMIM:613457
Proboscis Lateralis
Ureteral agenesis, Duplication of renal pelvis, High palate, Unilateral renal agenesis ORPHA:141099
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Bifid uvula, High palate, Hydronephrosis OMIM:620330
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Den Hoed-De Boer-Voisin Syndrome
Recurrent lower respiratory tract infections, Enamel hypoplasia, Ventricular septal defect, Amelo... OMIM:619229
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Macroglossia, Pulmonic stenosis ORPHA:488632
3Q29 Microduplication Syndrome
Camptodactyly of toe, Ventricular septal defect ORPHA:251038
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Recurrent bronchopulmonary infections, Ab... ORPHA:33364
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Macroglossia, Pulmonic stenosis, Atrial septal defect,... OMIM:614609
C Syndrome
Omphalocele, Ventricular septal defect OMIM:211750
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Syndromic Diarrhea
Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atr... ORPHA:84064
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect ORPHA:52055
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Noonan Syndrome 3
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At... OMIM:609942
Opitz Gbbb Syndrome
Umbilical hernia, Inguinal hernia, Ventricular septal defect OMIM:300000
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A... OMIM:249420
Codas Syndrome
Omphalocele, Ventricular septal defect, Atrial septal defect, Atrioventricular canal defect, Enam... OMIM:600373
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Coronary artery fistula, Ventricular septal defect, Neonatal death OMIM:620024
Phelan-Mcdermid Syndrome
Ventricular septal defect, Cellulitis OMIM:606232
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Inguinal hernia, Ventricular septal defect, Camptodactyly of finger ORPHA:251014
Coffin-Siris Syndrome
Ventricular septal defect, Recurrent upper respiratory tract infections, Abnormal heart morpholog... ORPHA:1465
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Flexion contracture, Ventricular septal defect OMIM:619306
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ventricular septal defect OMIM:106260
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Flexion contracture, Ventricular septal defect, Corneal scarring OMIM:614653
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect ORPHA:77298
Combined Pituitary Hormone Deficiencies, Genetic Forms
Polydactyly, Abnormal digit morphology, Holoprosencephaly, Median cleft lip and palate ORPHA:95494
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right... ORPHA:2209
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:261250
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Double outlet right ventricle, Mitra... ORPHA:163956
Oculodentodigital Dysplasia
Umbilical hernia, Abnormal dental enamel morphology, Ventricular septal defect, Camptodactyly of ... ORPHA:2710
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Patent foramen ovale, Periphe... OMIM:617506
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypoplastic left hea... OMIM:100300
Knobloch Syndrome 2
Encephalocele, Pyloric stenosis, Abnormal pulmonary interstitial morphology, Recurrent respirator... OMIM:618458
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect ORPHA:251028
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Inguinal hernia, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic... OMIM:607721
Trichohepatoneurodevelopmental Syndrome
Macroglossia, Distal arthrogryposis, Ventricular septal defect OMIM:618268
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect OMIM:212066
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Weakness of facial musculature, Multiple pulmonary cysts, Ventricular septal defect OMIM:619418
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, Umbilical hernia, Ventricular septal defect, Cardiomegaly ORPHA:96191
Peroxisome Biogenesis Disorder 5A (Zellweger)
Atrial septal defect, Ventricular septal defect, Camptodactyly OMIM:614866
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Limb hypertonia OMIM:609460
X Small Rings
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve ORPHA:96201
Chromosome 16P13.3 Duplication Syndrome
Inguinal hernia, Facial hypotonia, Ventricular septal defect, Small thenar eminence, Camptodactyl... OMIM:613458
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Inguinal hernia, Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve pro... ORPHA:500095
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Ventricular septal defect, Congenital pulmonary airway malformation ORPHA:436252
Fanconi Anemia, Complementation Group C
Flexion contracture, Ventricular septal defect OMIM:227645
Thauvin-Robinet-Faivre Syndrome
Macroglossia, Inguinal hernia, Ventricular septal defect, Mitral valve prolapse OMIM:617107
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect OMIM:301030
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Inguinal hernia, Ventricular septal defect, Dilatation of the ventricular cavity, Pulmonary arter... ORPHA:459070
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:619575
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect OMIM:244450
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Broad ischia, Diaphyseal dysplasia, Short palm, Broad ribs, 3-4 finger syn... OMIM:619727
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect OMIM:600460
Benign Schwannoma
Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology ORPHA:252164
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Pyloric stenosis, Pulmo... OMIM:235730
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Abnormal heart morphology, Macroglossia, Aspiration pneumonia, Patent ... ORPHA:444077
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale OMIM:618748
Omodysplasia 1
Atrial septal defect, Umbilical hernia, Pulmonary artery stenosis, Ventricular septal defect OMIM:258315
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Mitral stenosis, Camptodactyly of finger, Ventricular septal defect, Tri... OMIM:143095
Distal 22Q11.2 Microduplication Syndrome
Ventricular septal defect, Camptodactyly of finger, Macroglossia, Tricuspid valve prolapse, Campt... ORPHA:261337
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Ventricular septal defect, Atrial septal defect, Umbilical hernia, Tetralogy of Fallot ORPHA:1519
8Q24.3 Microdeletion Syndrome
Inguinal hernia, Ventricular septal defect, Complete atrioventricular canal defect, Abnormal lung... ORPHA:508488
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Ventricular septal defect, Patent foramen ovale, Inguinal hernia OMIM:613884
Histiocytoid Cardiomyopathy
Pulmonary edema, Ventricular septal defect, Cardiomegaly ORPHA:137675
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal left ventricle morphology, Ebstein anom... ORPHA:466791
Hajdu-Cheney Syndrome
Umbilical hernia, Inguinal hernia, Ventricular septal defect OMIM:102500
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Atrial septal defe... OMIM:619268
Duplication Of Urethra
Gastroschisis ORPHA:237
Diamond-Blackfan Anemia 1
Atrial septal defect, Small thenar eminence, Ventricular septal defect, Tricuspid stenosis OMIM:105650
Renpenning Syndrome 1
Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Camptodactyly, Atrial sep... OMIM:309500
Phace Association
Ventricular septal defect OMIM:606519
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect ORPHA:1724
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Patent foramen ovale OMIM:616975
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ventricular septal defect, Torticollis, Bicuspid aortic valve OMIM:619475
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis OMIM:607685
Feingold Syndrome 1
Ventricular septal defect, Tricuspid atresia, Tricuspid stenosis OMIM:164280
Williams-Beuren Syndrome
Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Flexion contracture, Mitral va... OMIM:194050
Eisenmenger Syndrome
Ventricular septal defect, Aortopulmonary window, Abnormal heart morphology, Bacterial endocardit... ORPHA:97214
Noonan Syndrome 1
Ventricular septal defect, Chylothorax, Pulmonic stenosis, Atrial septal defect, Hypertrophic car... OMIM:163950
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Lower-limb joint contracture, Ventricular septal defect ORPHA:513456
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Hiatus hernia OMIM:616682
Congenital Disorder Of Glycosylation, Type Iiw
Inguinal hernia, Tetralogy of Fallot, Ventricular septal defect OMIM:619525
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Ankle flexion contracture, Elbow flexion contracture, Knee flexion con... OMIM:268300
Townes-Brocks Syndrome 1
Atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect OMIM:107480

Histopathology

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

There is no histopathology data for Pdgfra

IMPC related publications

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

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

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MGI Allele Allele Type Produced
Pdgfraem1(IMPC)Ccpcz Exon Deletion Mice, Tissue

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