Registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

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

Disease Similarity of
Matching phenotypes Source
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Abnormal myelination, Hand tremor, Babinski sign, L... ORPHA:401840
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, Leuko... OMIM:614561
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Acropectorovertebral Dysplasia
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Spina bifida, Synostosis of carp... ORPHA:957
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Abnormal heart morphology, Atrioventricula... DECIPHER:39
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Syndactyly Type 2
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... ORPHA:93403
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... OMIM:143400
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor OMIM:160120
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Hypoplastic left atrium, Pulmonary hypoplasia, Ventricular septa... OMIM:615524
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft lip, Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Hypopl... ORPHA:2476
Gastric Cancer
Stomach cancer, Increased level of L-fucose in urine OMIM:613659
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Generalized myoclonic seizure, Ataxia, Babinski sign, Dysmetria, Tremor, Atonic seizure OMIM:612437
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Seizure, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait OMIM:616921
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Congenital Primary Megaureter
Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,... ORPHA:617
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Spastic gait, Abnormal myelination, Babinski sign, Difficulty wal... ORPHA:401820
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Ataxia, Delayed CNS my... OMIM:616421
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... ORPHA:60033
Bronchopulmonary Dysplasia
Hyperoxemia, Tracheobronchomalacia, Pulmonary sequestration, Abnormal respiratory system physiolo... ORPHA:70589
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Abnormal heart morphology, Emphysema OMIM:614100
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron... ORPHA:79127
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Spina bifida, Hydrocephalus, Holoprosencephaly, Postaxial hand polydactyly, Cleft palate ORPHA:945
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Abnormal heart valve morphology, Emphysema ORPHA:171719
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal thorax morphology, Upper limb phocomelia, Syndactyly, Cleft palate, Abnorma... ORPHA:294975
Duplicated collecting system, Ureterocele OMIM:191650
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... OMIM:617805
Fetal Encasement Syndrome
Bilateral trilobed lung, Congenital diaphragmatic hernia, Omphalocele, Tetralogy of Fallot OMIM:613630
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Long philtrum, Joint contracture of the hand, Spina bifida, Dermatoglyphic ridges abnormal, Campt... OMIM:211960
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Camptodactyly of finger, Spina bifida occulta, Short neck, Abnormal rib morphology, ... ORPHA:2311
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... OMIM:616053
Isolated Klippel-Feil Syndrome
Webbed neck, Ventricular septal defect, Spina bifida, Abnormal sacrum morphology, Abnormal verteb... ORPHA:2345
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Vesicoureteral Reflux 3
Ureter duplex, Recurrent urinary tract infections, Hydroureter, Grade IV vesicoureteral reflux, G... OMIM:613674
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Anterior encephalocele, Ventricular septal defect, Bilateral cleft lip, Foot oli... OMIM:601357
Intellectual Developmental Disorder, Autosomal Recessive 6
Postural tremor, Torticollis, Myoclonus, Atonic seizure, Kinetic tremor, Involuntary movements OMIM:611092
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Aplasia/Hypoplasia of the diaphragm ORPHA:2140
Primary Hyperoxaluria Type 2
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... ORPHA:93599
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the philtrum, Abnormality of the elbow, Finger syndactyly, Clinodactyly of the 5th... ORPHA:3268
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Renal agenesis, Ureteral dysgenesis, Anal atresia OMIM:274265
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Tremor OMIM:616187
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Hyperkinetic movements, Dyst... OMIM:618425
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Spondylolisthesis at L5-S1, Atlantoaxial dislocation, Tongue fasciculations, Atlan... OMIM:600561
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Long philtrum, Hip dysplasia, Preaxial foot polydacty... ORPHA:1988
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Bifid uvula, Hydronephrosis ORPHA:2669
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Myoclonic seizure, Seizure, Generalized myoclonic seizure, Ataxia, Bilateral tonic-c... OMIM:617831
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema OMIM:130700
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... OMIM:610921
Syndactyly, Type Iv
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... OMIM:186200
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Facial cleft, Neural tube defect OMIM:600776
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Wrist flexion contracture, Polyhydramnios, Coat hanger sign of ribs, Thoracic hypoplasia, Promine... ORPHA:254528
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Nuchal Bleb, Familial
Hydrops fetalis, Stillbirth, Fetal cystic hygroma OMIM:257350
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... OMIM:618270
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short thorax, Wide nasal bridge, Vertebral segmentation defect, Missing ribs, Post... ORPHA:1797
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... ORPHA:3269
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis OMIM:158580
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Hallux valgus, Toe syndactyly, Pectus excavatum, Scapular winging, Abnor... ORPHA:1327
Synpolydactyly 1
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... OMIM:186000
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Dislocated radial head, Cleft palate, T... ORPHA:2839
Polyhydramnios, Midline facial cleft, Encephalocele, Median cleft lip, Cleft palate ORPHA:3374
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Bronchiectasis, Chronic pulmonary obstruction, Dyspnea, Cough, Gastric varix,... OMIM:613490
Tremor, Hereditary Essential, 6
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor OMIM:618866
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Primary Dystonia, Dyt27 Type
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Metatropic Dysplasia
Respiratory insufficiency, Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Genu val... OMIM:156530
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Wide nasal bridge, Cardiac rhabdomyoma, Short distal phalanx o... OMIM:109400
Autosomal Recessive Spastic Paraplegia Type 70
Progressive spastic paraplegia, Abnormal myelination, Hand tremor, Lower limb spasticity ORPHA:401835
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Seizure, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Imp... OMIM:300423
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Kyphosis, Paucity of anterior horn motor neurons, Hip dysplasia, Short neck, Scolios... OMIM:611890
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Myoclonic status epilepticus, Ataxia, Loss of ambulation, Tremor, Bilateral tonic-clon... OMIM:614018
Dystonia 27
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... OMIM:616411
Ulnar Hemimelia
Spinal dysraphism, Sclerotic forearm bones, Humeroradial synostosis, Aplasia of metacarpal bones,... ORPHA:93320
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Greenberg Dysplasia
Short phalanx of finger, Polyhydramnios, Thoracic hypoplasia, Tetraphocomelia, Epiphyseal stippli... OMIM:215140
Anophthalmia Plus Syndrome
Non-midline cleft lip, Facial cleft, Spina bifida, Deviation of finger, Cleft palate, Bilateral c... ORPHA:1104
Acrofacial Dysostosis, Catania Type
Webbed neck, Finger syndactyly, Short stature, Small hand, Facial cleft, Clinodactyly of the 5th ... ORPHA:1786
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Polyhydramnios, Hydrops fetalis, Fetal pleural effusion, Fetal ascites, Fetal pericardial effusion OMIM:619462
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Abnormal cardiac septum morphology ORPHA:99811
Autosomal Recessive Spastic Paraplegia Type 57
Spasticity, Inability to walk, Abnormal myelination, Babinski sign, Spastic paraplegia ORPHA:431329
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Myoclonus, Bilateral tonic-clonic seizure, Tremor, Fo... OMIM:615400
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Coat hanger sign of ribs, Thoracic hypoplasia, Large placenta, Umbilical hernia ORPHA:254534
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure, Tremor, Difficulty walking OMIM:613608
Dysmyelination With Jaundice
Hydroureter, Hypoplasia of penis, Hydronephrosis OMIM:224250
Spinocerebellar Ataxia 43
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor OMIM:617018
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia, Hydronephrosis OMIM:235760
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Myoclonus, Tremor, Seizure OMIM:615127
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Advanced ossification of carpal bones, Short ribs, Fetal ascites... OMIM:215045
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Absence seizure with eyelid myoclonia, Truncal ataxia, Myoclonus, Generalize... OMIM:618587
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Postural tremor ORPHA:85292
Poland Syndrome
Unilateral oligodactyly, Short ribs, Unilateral hypoplasia of pectoralis major muscle, Unilateral... OMIM:173800
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... OMIM:605407
Congenital Anomalies Of Kidney And Urinary Tract 1
Stage 5 chronic kidney disease, Vesicoureteral reflux, Ureteropelvic junction obstruction OMIM:610805
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Achondrogenesis, Type Ib
Polyhydramnios, Hydrops fetalis, Hypoplastic ilia, Short ribs, Breech presentation, Edema, Stillb... OMIM:600972
Respiratory insufficiency, Emphysema, Abnormal rib morphology, Abnormal metaphysis morphology, Bo... ORPHA:436
Nevus Comedonicus Syndrome
Finger syndactyly, Spina bifida, Toe syndactyly, Spina bifida occulta, Preaxial polydactyly ORPHA:64754
Dystonia 23
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Gait disturbance, Head tremor, Axial dystonia OMIM:614860
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Tapered finger, Pierre-Robin sequence, Clinod... OMIM:311895
Becker Nevus Syndrome
Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Upper limb asymmetry, Abnormality of ... ORPHA:64755
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Omphalocele, Abnormality of the diaphragm, Pulmonary hypoplasia OMIM:601163
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Vesicoureteral reflux, Gastroesophageal reflux, Neurogenic bladder, Recurrent urinary tract infec... OMIM:191800
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Asthma, Emphysema, Cough ORPHA:1164
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele, Pulmonary hypoplasia ORPHA:2141
Mosaic Trisomy 9
Camptodactyly of finger, Polyhydramnios, Micrognathia, Hip dislocation, Short neck, Rocker bottom... ORPHA:99776
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absence of... ORPHA:2847
Developmental And Epileptic Encephalopathy 58
Delayed myelination, Seizure, Spastic diplegia, Inability to walk, Status epilepticus OMIM:617830
Rudiger Syndrome
Ureterovesical stenosis, Micropenis OMIM:268650
Serkal Syndrome
Congenital diaphragmatic hernia, Pulmonic stenosis, Pulmonary hypoplasia, Ventricular septal defect ORPHA:139466
Autosomal Recessive Spastic Paraplegia Type 69
Progressive spastic paraplegia, Spastic dysarthria, Abnormal myelination, Hand tremor, Lower limb... ORPHA:401830
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Polyhydramnios, Wide nasal bridge, Micrognathia, Recurrent sinusitis, Pectus excavatum, Overlappi... OMIM:213980
Tremor, Hereditary Essential, 1
Hand tremor, Action tremor, Postural tremor OMIM:190300
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Short stature, Vertebral segmentation defect, Hypoplasia of the odontoid process, Contr... OMIM:609813
Indomethacin Embryofetopathy
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Premature birt... ORPHA:1909
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Spinal rigidity, Scoliosis, Death in adolescence, Respiratory failure, Respiratory insufficiency ... OMIM:300717
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Tongue fasciculations, Respiratory failure, Recurrent respiratory infe... OMIM:253300
Paroxysmal Kinesigenic Dyskinesia
Chorea, Focal sensory seizure, Seizure, Writer's cramp, Involuntary movements, Athetosis, Dystonia ORPHA:98809
Developmental And Epileptic Encephalopathy 97
Epileptic spasm, Tremor, Seizure, Inability to walk OMIM:619561
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... OMIM:612387
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Ataxia, Babinski sign OMIM:611105
Enlarged thorax, Short thorax, Myelomeningocele, Narrow pelvis bone, Missing ribs, Cleft palate ORPHA:66637
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Triphalangeal thumb, Patent ductus arteriosus, Atrioventricular canal defect, Preaxial hand polyd... ORPHA:1120
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia ORPHA:401901
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Horizontal ribs, Short ribs, Narrow chest, Postaxial foot polydactyly, Lateral clavicle hook, Ace... OMIM:617405
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Pulmonary hypoplasia, Hypertrophic cardiomyopathy... OMIM:614096
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Upper limb undergrowth, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Death in infancy, Cerebral dysmyelination, Central apnea, Respiratory ... OMIM:611722
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Absent thumb, Radial club hand, Aqueductal stenosis, Hydrocephalus, An... OMIM:276950
Schisis Association
Encephalocele, Spina bifida, Anencephaly, Anal atresia, Tracheoesophageal fistula, Cleft palate, ... ORPHA:63862
Orofaciodigital Syndrome Xviii
Genu valgum, Short philtrum, Diastema, Accessory oral frenulum, Cervical ribs, Single transverse ... OMIM:617927
Developmental And Epileptic Encephalopathy 54
Delayed myelination, Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Ton... OMIM:617391
Spondylocostal Dysostosis 4, Autosomal Recessive
Bell-shaped thorax, Vertebral fusion, Short thorax, Myelomeningocele, Short stature, Block verteb... OMIM:613686
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Seizure, Torticollis, Myoclonus, Ataxia, Babins... OMIM:607317
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Progressive Myoclonic Epilepsy Type 1
Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Intention tremor ORPHA:308
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... OMIM:601331
Developmental And Epileptic Encephalopathy 32
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Seizure, Myoclo... OMIM:616366
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... ORPHA:98807
Facial Clefting, Oblique, 1
Cleft palate, Cleft upper lip, Tessier number 4 facial cleft OMIM:600251
Prune Belly Syndrome
Urogenital sinus anomaly, Vesicoureteral reflux, Multicystic kidney dysplasia, Recurrent urinary ... ORPHA:2970
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Seizure, Clumsiness, Abnormality of extrapyramidal motor fun... ORPHA:79262
Migraine, Familial Hemiplegic, 1
Seizure, Hemiparesis, Hemiplegia, Ataxia, Tremor OMIM:141500
Spinocerebellar Ataxia Type 37
Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturbance, Tremor, Cogwheel rigidity... ORPHA:363710
Acropectoral Syndrome
Triphalangeal thumb, Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly... OMIM:605967
Infantile Convulsions And Choreoathetosis
Chorea, Seizure, Focal-onset seizure, Choreoathetosis, Complex febrile seizure, Paroxysmal dyskin... ORPHA:31709
Achondrogenesis, Type Ii
Horizontal ribs, Polyhydramnios, Hypoplastic iliac wing, Hydrops fetalis, Long philtrum, Short tu... OMIM:200610
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the lungs, Hypoplasia of penis, O... ORPHA:1046
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Enuresis, Urethral valve, Urethral obstruction, ... OMIM:236730
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Vesicoureteral Reflux, X-Linked
Vesicoureteral reflux OMIM:314550
Vesicoureteral Reflux 1
Vesicoureteral reflux OMIM:193000
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis, Increased nuchal translucency ORPHA:295
Short Rib-Polydactyly Syndrome
Horizontal ribs, Polyhydramnios, Absent or minimally ossified vertebral bodies, Short tibia, Poly... ORPHA:1505
Acrofacial Dysostosis, Weyers Type
Conical tooth, Small hand, Facial cleft, Hypodontia, Advanced eruption of teeth, Clinodactyly of ... ORPHA:952
Acropectorovertebral Dysplasia
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Abn... OMIM:102510
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal motor seizure, Paroxysmal dystonia, Writer's cramp, Myoclonus, Hand tremor, Bilateral tonic... OMIM:608105
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor, Difficulty walking ORPHA:423296
Hinman Syndrome
Vesicoureteral reflux, Recurrent urinary tract infections, Enuresis, Renal insufficiency, Hydrone... ORPHA:84085
Congenital Myopathy 14
Hip contracture, High palate, Death in infancy, Apnea, Respiratory failure, Respiratory insuffici... OMIM:618414
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Developmental And Epileptic Encephalopathy 17
Chorea, Generalized tonic seizure, Delayed myelination, Athetosis, Dystonia OMIM:615473
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal irregularity, Osteoporotic tarsals, Sclerotic humeral metaphysis, Coxa valga, Metaphy... OMIM:609052
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Abnormal pyramidal sign, Shuffling gait, Limb hypertonia, Parkinsonism, Rigidity, Sei... OMIM:615528
Urofacial Syndrome 2
Vesicoureteral reflux, Recurrent urinary tract infections, Urinary urgency, Bladder trabeculation... OMIM:615112
Sprengel Deformity
Cleft palate, Shoulder muscle hypoplasia, Abnormality of the shoulder girdle musculature, Abnorma... ORPHA:3181
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... OMIM:260300
Hyperekplexia 4
High palate, Camptodactyly, Adducted thumb, Kyphoscoliosis, Respiratory failure, Umbilical hernia OMIM:618011
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Camptodactyly of finger, High palate, Tongue fasciculations, Respirato... OMIM:614399
Multiple Synostoses Syndrome 3
Humeroradial synostosis, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hallux, Metac... OMIM:612961
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Cleft upper lip, Facial cleft, Broad proximal phalanges of the hand, Cle... OMIM:607597
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Polyhydramnios, Spinal dysraphism, Coxa valga, Thoracic hypoplasia, Epiphyseal stipp... ORPHA:96334
Leukodystrophy, Hypomyelinating, 11
Spasticity, Leukodystrophy, Myoclonus, Ataxia, Tremor, CNS hypomyelination OMIM:616494
Mosaic Trisomy 16
Short forearm, Short femoral neck, Wide mouth, Abnormal thorax morphology, Clinodactyly, Maternal... ORPHA:1708
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... OMIM:618167
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Long proximal phalanx of finger, Genu valgum, Spinal dysraphism, Metaphyseal irregularity, Delaye... OMIM:603546
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... ORPHA:101110
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia OMIM:600116
Cerebrofaciothoracic Dysplasia
Bifid ribs, Polyhydramnios, Wide nose, Short stature, Narrow chest, Vertebral segmentation defect... ORPHA:1394
Renal Hypoplasia
Vesicoureteral reflux, Hydronephrosis, Abnormal renal cortex morphology, Renal insufficiency, Rec... ORPHA:93101
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Seizure, Focal-onset seizure, Abnormality of extrapyramidal motor function, Myoclonu... OMIM:615362
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Abnormal CNS myelination,... ORPHA:477673
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Flared iliac wing, Pulmonary hypoplasia, Short hallux, Abnormal rib morp... ORPHA:90652
Atelosteogenesis, Type Ii
Respiratory insufficiency, Pulmonary hypoplasia, Short neck, Cleft palate, Lumbar hyperlordosis, ... OMIM:256050
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor ORPHA:86814
Developmental And Epileptic Encephalopathy 42
Myoclonic seizure, Focal tonic seizure, Ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Tr... OMIM:617106
Aicardi Syndrome
Bifid ribs, Block vertebrae, Spina bifida, Supernumerary ribs, Missing ribs, Prominence of the pr... OMIM:304050
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Hydrops fetalis, High palate, Hydrocephalus, Cardiomegaly, Ascites, Gin... OMIM:269920
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Camptodactyly, Cleft palate, Widely patent coronal suture, Short palm,... OMIM:228520
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration, CNS demyelination OMIM:618328
Multiple Pterygium Syndrome, Escobar Variant
Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral bodies, Microgna... OMIM:265000
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Aplasia/Hypoplasia of... ORPHA:2990
Hypertelorism, Microtia, Facial Clefting Syndrome
2-3 toe syndactyly, Cleft upper lip, Short 5th finger, Facial cleft, Narrow mouth, Abnormal heart... OMIM:239800
Corticobasal Syndrome
Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, G... ORPHA:454887
Aplasia Cutis Congenita
Toe syndactyly, Spinal dysraphism, Finger syndactyly ORPHA:1114
Arthrogryposis, Distal, Type 1C
Camptodactyly of finger, Wrist flexion contracture, Hip contracture, High palate, Elbow flexion c... OMIM:619110
Exostoses, Multiple, Type Ii
Genu valgum, Coxa vara, Short metacarpal, Scapular exostoses, Pelvic bone exostoses, Madelung-lik... OMIM:133701
Exostoses, Multiple, Type I
Genu valgum, Coxa vara, Short metacarpal, Scapular exostoses, Pelvic bone exostoses, Madelung-lik... OMIM:133700
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Fountain Syndrome
Short stature, Kyphosis, Spina bifida, Abnormal metacarpal morphology, Coarse metaphyseal trabecu... ORPHA:3219
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral fusion, Back pain, Short stature, Block vertebrae, Vertebral segmentation defect, Sever... OMIM:277300
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Desquamative interstiti... OMIM:265120
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... ORPHA:98762
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Seizure, Inability to walk, Focal-onset seizure, Oculogyric crisis, Generalized myoclonic seizure... ORPHA:330050
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Patent foramen ovale, Flexion contracture, Spinal... OMIM:616867
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Long philtrum, Short foot, Multiple rib fractures, Short palm, T... ORPHA:93299
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Long philtrum, Abnormal rib morphology, Short foot, Thickened nu... ORPHA:93298
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... ORPHA:314978
Czeizel-Losonci Syndrome
Myelomeningocele, High palate, 2-3 finger syndactyly, Spina bifida, Hydrocephalus, Clubbing of to... ORPHA:2437
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Abnormal pyramidal sign, Seizure, Dysdiadochokinesis, Parkinsonism, Rigidity, Gait distur... OMIM:213600
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Tetralogy of Fallot, Abnormality of the pulmonary artery, Ventri... ORPHA:1166
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Thoracolumbar scoliosis, Hip contracture, Tapered finger, Hyperextensi... OMIM:313420
Lethal Osteosclerotic Bone Dysplasia
Gingival fibromatosis, Respiratory distress, Median cleft lip and palate, Short neck, Dyspnea, Re... ORPHA:1832
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Missing r... ORPHA:2759
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Gait disturbance, Resting tremor OMIM:616710
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Respiratory failure, Exertional dyspnea, Late inspira... ORPHA:2302
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Seizure, Postural tremor, Resting tremor, Akinesia, Clumsiness, Parkinsonism, Rigidity, Freezing ... OMIM:619911
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Seizure, Myoclonus, Ataxia, Tetraparesis, Tremor, Dystonia OMIM:615924
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Facial cleft, Abnormality of the humerus, Median cleft lip, Adducted thu... ORPHA:1794
Frontal Encephalocele
Spina bifida, Hydrocephalus, Encephalocele ORPHA:1931
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Dystonia 16
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Unsteady gait... ORPHA:210571
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Genu varum, Hydrops fetalis, Metaphyseal cupping, Abnormal carpal morphology, Sho... ORPHA:85166
Jeune Syndrome
Abnormal sternum morphology, Short thorax, Cone-shaped epiphysis, Toe syndactyly, Narrow chest, A... ORPHA:474
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dystonia, Fasciculations ORPHA:309169
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Tremor OMIM:601068
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly OMIM:174200
Disorganization, Mouse, Homolog Of
Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate OMIM:223200
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Typical absence seizure, Seizure, Inability to walk, Eyelid myoclonus, Clumsiness... ORPHA:2590
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Fibular Hemimelia
Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Ectrodactyly, ... ORPHA:93323
Kagami-Ogata Syndrome
Polyhydramnios, Coat hanger sign of ribs, Bell-shaped thorax, Coxa valga, Thoracic hypoplasia, Pu... ORPHA:254519
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Tip-toe gait, Torticollis, Myoclonus, Gait disturbance, Tremor, Craniofa... OMIM:617284
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Fractured radius, Ventricular septal defect, Short ribs, Multipl... OMIM:616897
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Congenital Myopathy 1B, Autosomal Recessive
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:255320
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... ORPHA:1834
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Generalized Epilepsy With Febrile Seizures-Plus
Poor fine motor coordination, Febrile seizure (within the age range of 3 months to 6 years), Gene... ORPHA:36387
Jawad Syndrome
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... OMIM:251255
Spinocerebellar Ataxia 23
Gait ataxia, CNS demyelination, Limb ataxia, Babinski sign, Dysmetria, Tremor OMIM:610245
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... OMIM:174700
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Seizure, Focal motor seizure, Poor coordination, Status epilepticus, Ataxia, A... OMIM:617665
Schneckenbecken Dysplasia
Polyhydramnios, Metaphyseal irregularity, Dumbbell-shaped long bone, Advanced ossification of car... OMIM:269250
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... ORPHA:314632
Developmental Delay And Seizures With Or Without Movement Abnormalities
Rigidity, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Tremor, Myocloni... OMIM:617836
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Knee flexion contracture, Distal arthrogryposis, Flexion contracture, Hip contracture, Elbow flex... OMIM:617468
Primary Dystonia, Dyt2 Type
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt... ORPHA:99657
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Inability to walk, Rigidity, Generalized myoclonic seizure, Gait disturbance, Tonic ... OMIM:618090
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Seizure, Spastic gait, Spastic dysarthria, Limb ataxia, Spastic paraplegia, Babin... ORPHA:251282
Robinow Syndrome, Autosomal Recessive 1
Wide nasal bridge, Micrognathia, Pectus excavatum, Dislocated radial head, Short neck, Radial dev... OMIM:268310
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor, Unsteady gait OMIM:615768
Loeys-Dietz Syndrome 4
Protrusio acetabuli, Pneumothorax, High palate, Eosinophilic infiltration of the esophagus, Bifid... OMIM:614816
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia, Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Art... OMIM:253310
Atypical Juvenile Parkinsonism
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Inability to walk, Akinesia, Resting tremor... ORPHA:391411
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal localization of kidney, Anal atresia, Hydronephrosis ORPHA:195
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly, Pierre-Robin sequence, Cleft palate OMIM:172880
Congenital Disorder Of Glycosylation, Type Iig
Wide nasal bridge, Micrognathia, Camptodactyly, Butterfly vertebrae, Short neck, Posterior rib ga... OMIM:611209
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Dysmetria, Loss of ambulation, Tremor, Unsteady gait OMIM:617917
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, An... ORPHA:2973
Dystonia, Dopa-Responsive
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... OMIM:128230
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Polyhydramnios, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral... OMIM:615633
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Microcolon, Megacystis, Neonatal death, Fetal megacystis, Hydronephrosis OMIM:619362
Spastic Paraplegia 6, Autosomal Dominant
Seizure, Spastic gait, Babinski sign, Spastic paraplegia, Tremor, Lower limb spasticity, Clonus OMIM:600363
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrops fetalis, Encephalocele, Hypoplastic pubic bone, Hypoplastic ilia, Short ribs, Short long ... ORPHA:1865
Santos Syndrome
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... OMIM:613005
Primary Pulmonary Hypoplasia
Patellar hypoplasia, Pneumothorax, Pulmonary hypoplasia, Ureteral stenosis, Cleft palate, Recurre... ORPHA:2257
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... OMIM:619773
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Meckel Syndrome, Type 1
Camptodactyly of finger, Radial deviation of finger, Smooth philtrum, Postaxial hand polydactyly,... OMIM:249000
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Knee flexion contracture, Unilateral wrist flexion contracture, Pulmonary hypoplasia, Arthrogrypo... OMIM:616531
Lichtenstein-Knorr Syndrome
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor OMIM:616291
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Death in childhood OMIM:616081
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Neonatal death, Pulmonary hypoplasia OMIM:615228
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Developmental And Epileptic Encephalopathy 16
Delayed myelination, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Status... OMIM:615338
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... OMIM:618773
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Hydrops fetalis, High palate, Short ribs, Short lingual frenulum, Microdontia, Short... OMIM:614091
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia OMIM:300911
Bor Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junc... ORPHA:107
Autosomal Spastic Paraplegia Type 58
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Spastic ataxia, Tip-toe gait, Abnormal pyrami... ORPHA:397946
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Spinocerebellar Ataxia Type 40
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Unsteady gait,... ORPHA:423275
Limb Body Wall Complex
Thoracic hypoplasia, Abnormal thorax morphology, Spina bifida occulta, Broad hallux, Abnormal int... ORPHA:2369
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Intestinal atresia, Duodenal atresia,... ORPHA:3405
Spinal dysraphism, Myelomeningocele, Anencephaly, Anal atresia, Sirenomelia, Cervical spina bifid... ORPHA:63260
Peutz-Jeghers Syndrome
Stomach cancer, Enlarged polycystic ovaries, Abnormality of the gastrointestinal tract, Renal cel... ORPHA:2869
Campomelic Dysplasia
Short phalanx of finger, Polyhydramnios, Spinal dysraphism, Thoracic hypoplasia, Hallux valgus, M... OMIM:114290
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Anal atresia, Renal cyst, Neonatal death, Rectal atresia, Hydrone... OMIM:613390
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae, Disprop... OMIM:608681
Meckel Syndrome, Type 11
Polydactyly, Occipital encephalocele, Oligohydramnios OMIM:615397
Acromelic Frontonasal Dysostosis
Short tibia, Polydactyly, Cleft upper lip, Encephalocele, Patellar hypoplasia, Midline facial cle... OMIM:603671
Roussy-Levy Hereditary Areflexic Dystasia
Gait ataxia, Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Upper ... OMIM:180800
Boomerang Dysplasia
Polyhydramnios, Aplasia/Hypoplasia of the fibula, Hydrops fetalis, Finger syndactyly, Abnormality... ORPHA:1263
Developmental And Epileptic Encephalopathy 4
Generalized tonic seizure, Spastic tetraplegia, Cerebral hypomyelination, Choreoathetosis, Status... OMIM:612164
Parkinson Disease 17
Resting tremor, Akinesia, Rigidity, Parkinsonism, Tremor, Bradykinesia OMIM:614203
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Posterior... OMIM:122600
Tremor, Hereditary Essential, 4
Action tremor, Postural tremor OMIM:614782
Nephrolithiasis, Calcium Oxalate
Acute kidney injury, Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Oculocerebrocutaneous Syndrome
Finger syndactyly, Wide mouth, Facial cleft, Hydrocephalus, Missing ribs, Hand polydactyly, Conge... ORPHA:1647
Spinal Muscular Atrophy, Jokela Type
Tremor, Difficulty walking, Fasciculations OMIM:615048
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Tremor, Dystonia, Frequent falls OMIM:619647
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Prune Belly Syndrome
Congenital posterior urethral valve, Hydroureter, Anal atresia, Xerostomia, Hydronephrosis OMIM:100100
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Microcolon, Intestinal malrotation, Megacystis, Hydronephrosis OMIM:619431
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity, Bilateral toni... OMIM:619028
Focal Dermal Hypoplasia
Camptodactyly of finger, Abnormal cardiac septum morphology, Toe syndactyly, Abnormal dental enam... ORPHA:2092
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Aplasia of the ulna, Hand oligodactyly, Neonatal death, Endocardial fibroelastosis OMIM:276822
Neu-Laxova Syndrome 2
Polyhydramnios, Finger syndactyly, Depressed nasal ridge, Spina bifida, Micrognathia, Toe syndact... OMIM:616038
Nail-Patella Syndrome
Hypoplasia of first ribs, Biceps aplasia, Cleft upper lip, Patellar hypoplasia, Patellar aplasia,... OMIM:161200
Cyanide-Induced Parkinsonism-Dystonia
Shuffling gait, Resting tremor, Parkinsonism, Falls, Rigidity, Short stepped shuffling gait, Brad... ORPHA:306692
Desmoid Tumor
Malabsorption, Abnormality of the upper urinary tract, Intestinal polyposis, Intestinal obstructi... ORPHA:873
Cloacal Exstrophy
Vesicoureteral reflux, Renal hypoplasia/aplasia, Hydroureter, Hypoplasia of penis, Anal atresia, ... ORPHA:93929
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Short middle phalanx of the 4th finger, Radioulnar synostosis, Limited pronation... OMIM:616738
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Hydrocephalus,... ORPHA:2635
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Intestinal malrotation, Hydroureter, Fetal megacystis OMIM:249210
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dystonia OMIM:261630
Gordon Syndrome
Camptodactyly of finger, High palate, Finger syndactyly, Clinodactyly of the 5th finger, Pectus e... ORPHA:376
Leukodystrophy, Hypomyelinating, 6
Spasticity, Seizure, Rigidity, Oculomotor apraxia, Cerebral hypomyelination, Choreoathetosis, Leu... OMIM:612438
Cerebral Creatine Deficiency Syndrome 2
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Rigidity, Paraparesis, My... OMIM:612736
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Bilateral lung agenesis, Pulmonary hypoplasia, Congenital diaphragmati... OMIM:611812
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Urocanase Deficiency
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait OMIM:276880
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Myelin outfoldings,... OMIM:607734
Thoraco-Abdominal Enteric Duplication
Meningocele, Camptodactyly of finger, Missing ribs, Diastomatomyelia, Duodenal stenosis, Intestin... ORPHA:1759
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Desquamative interstitial pneumonitis, Bronchiectasis, Decreased DLCO,... OMIM:610913
Lethal Congenital Contracture Syndrome 10
Fetal akinesia sequence, Hydrops fetalis, Narrow palate, Ventricular septal defect, High palate, ... OMIM:617022
Mulibrey Nanism
Dental malocclusion, Enamel hypoplasia, Hydrops fetalis, Pericardial constriction, Hypodontia, De... OMIM:253250
Caudal Duplication
Myelomeningocele, Spina bifida, Vertebral segmentation defect, Abnormal sacrum morphology, Spinal... ORPHA:1756
Robin Sequence-Oligodactyly Syndrome
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morph... ORPHA:3104
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Increased laxity of fingers, Spinal rigidity, Hip dislocation, Adducted thumb, Abnormal... ORPHA:75840
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Delayed myelination, Seizure, Inability to walk, Generalized myoclonic seizure, Ataxia, Lower lim... OMIM:616756
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiolitis OMIM:604571
Cerebrocostomandibular Syndrome
Meningocele, Myelomeningocele, Kyphosis, Death in infancy, Spina bifida, Clinodactyly of the 5th ... ORPHA:1393
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Hydrocephalus, Oligohydramnios, Pericarditis, Preeclampsia ORPHA:163596
Cerebrooculonasal Syndrome
High palate, Long philtrum, Facial cleft, Widely spaced teeth, Microdontia, Solitary median maxil... ORPHA:66625
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... OMIM:183600
Hydrolethalus Syndrome 2
Preaxial foot polydactyly, Anencephaly, Hydrocephalus, Postaxial foot polydactyly, Postaxial hand... OMIM:614120
Glycosylphosphatidylinositol Biosynthesis Defect 15
Gait ataxia, Myoclonic seizure, Spasticity, Inability to walk, Apraxia, Dysmetria, Tremor, Atonic... OMIM:617810
Meckel Syndrome, Type 2
Meningocele, Polydactyly, Encephalocele, Anencephaly, Intestinal malrotation, Postaxial hand poly... OMIM:603194
Cartilage-Hair Hypoplasia
Spinal dysraphism, Convex nasal ridge, Abnormal cardiac septum morphology, Wide nasal bridge, Abn... ORPHA:175
Meckel Syndrome, Type 8
Polydactyly, Cleft upper lip, Encephalocele, Narrow chest, Cleft palate, Occipital encephalocele,... OMIM:613885
Polyhydramnios, Hyperlordosis, Spinal dysraphism, Encephalocele, Myelomeningocele, Mandibular apl... ORPHA:63259
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis, Aplastic clavicle, Short ribs, Anencephaly, Hydrocephalus, Atria... OMIM:616546
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Spasticity, Delayed myelination, Limb hypertonia, Multifocal seizures, Choreoathetosis, Status ep... OMIM:615905
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia, Arthrogryposis multiplex congenita OMIM:601809
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Clumsiness, G... ORPHA:216873
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Unsteady gait, Intention tremor OMIM:302500
Trisomy 1Q
Camptodactyly of finger, Polyhydramnios, Hydrops fetalis, Preaxial hand polydactyly, Ventricular ... ORPHA:261344
Multiple Mitochondrial Dysfunctions Syndrome 5
Leukodystrophy, Spasticity, Delayed myelination, Seizure OMIM:617613
Diaphragmatic Hernia 2
Congenital diaphragmatic hernia, Agenesis of the diaphragm OMIM:222400
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Ataxia, Demyelinating sensory neuropathy, Dysmetria, Tremor, Steppage gait OMIM:618387
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Neuropathic spinal arthropathy, Hip dislocation, Abnormality of the to... ORPHA:370968
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Loss of ambulation, Tremor, ... ORPHA:521406
Pontocerebellar Hypoplasia, Type 2D
Chorea, Delayed myelination, Seizure, Spastic tetraplegia, Appendicular spasticity, Clonus OMIM:613811
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema OMIM:618307
Fanconi Renotubular Syndrome 5
Genu valgum, Lung adenocarcinoma, Emphysema, Pulmonary fibrosis, Decreased DLCO OMIM:618913
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Apnea, Respiratory failure, Death in infancy OMIM:613869
Meacham Syndrome
Neonatal death, Cardiac total anomalous pulmonary venous connection, Diaphragmatic eventration, V... OMIM:608978
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Occipital Horn Syndrome
Genu valgum, Coxa valga, High palate, Capitate-hamate fusion, Broad ribs, Broad clavicles, Pectus... OMIM:304150
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Pneumothorax, Emphysema ORPHA:122
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Bifid tongue, Ectopic anus, Toe syndactyly, Elbow dislocation, Pectus ex... ORPHA:1507
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... ORPHA:1350
Bladder Exstrophy
Vesicoureteral reflux, Abnormality of the anus, Recurrent urinary tract infections, Hypoplasia of... ORPHA:93930
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor OMIM:607458
Meier-Gorlin Syndrome 1
Coxa valga, Microdontia, Camptodactyly, Cleft palate, Flat glenoid fossa, Short palm, Aplasia/Hyp... OMIM:224690
Castleman Disease
Renal insufficiency, Abnormality of the gastrointestinal tract, Hematuria, Generalized lymphadeno... ORPHA:160
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, High palate, Hydronephrosis ORPHA:85285
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Broad femoral neck, Hallux valgus, Short 1st metacarpal, Widely spaced... OMIM:135100
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis, Pyloric stenosis OMIM:617219
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Neurodegeneration With Brain Iron Accumulation 7
Leukodystrophy, Ataxia, Dysmetria, Loss of ambulation, Tremor, Lower limb spasticity, Dystonia OMIM:617916
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Seizure, Postural tremor, Progressive gait ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, B... ORPHA:284324
Thanatophoric Dysplasia, Type Ii
Respiratory insufficiency, Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Platyspondyly,... OMIM:187601
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Scimitar Syndrome
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Hypoplasia of the diaphragm, Abnormal hem... ORPHA:185
Meacham Syndrome
Pulmonary sequestration, Conotruncal defect, Ventricular septal defect, Aplasia/Hypoplasia of the... ORPHA:3097
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Polydactyly, Clinodactyly, Narrow mouth, Postaxial polydactyly OMIM:615984
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Tremor, Myoclonus OMIM:159900
Orofaciodigital Syndrome Iv
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Foot polydactyly, Sho... OMIM:258860
Spinocerebellar Ataxia Type 14
Gait ataxia, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebellar ataxia ORPHA:98763
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal respiratory system phys... ORPHA:266
Dysplastic Cortical Hyperostosis
Polyhydramnios, Hydrops fetalis, Abnormality of limb bone morphology ORPHA:2204
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Pectus excavatum, ... OMIM:607778
Lymphatic Malformation 12
Polyhydramnios, Lymphedema, Fetal pleural effusion, Nonimmune hydrops fetalis, Fetal ascites, Fet... OMIM:620014
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Micrognathia, H... OMIM:274000
Xeroderma Pigmentosum, Complementation Group G
Infantile spasms, Spasticity, Tremor, Ataxia OMIM:278780
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Trisomy 18
Camptodactyly of finger, Narrow pelvis bone, Holoprosencephaly, Postaxial hand polydactyly, Abnor... ORPHA:3380
Ciliary Dyskinesia, Primary, 21
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... OMIM:615294
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Abnormal lung lobation, Pulmonary hypoplasia, Congenital diaphragmatic herni... OMIM:263210
Nemaline Myopathy 9
Polyhydramnios, Fetal akinesia sequence, High palate, Ventricular septal defect, Breech presentat... OMIM:615731
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Seizure, Ataxia, Delayed CNS myelination, Tremor OMIM:300983
Aicardi Syndrome
Bifid ribs, Small hand, Block vertebrae, Hip dysplasia, Supernumerary ribs, Missing ribs, Promine... ORPHA:50
Proximal 16P11.2 Microdeletion Syndrome
Micrognathia, Abnormal aortic valve morphology, Hand polydactyly, Abnormal vertebral morphology, ... ORPHA:261197
Trisomy 20P
Camptodactyly of finger, Preaxial hand polydactyly, Finger syndactyly, Kyphosis, Spina bifida, Mi... ORPHA:261318
Congenital Disorder Of Glycosylation, Type Ik
Thin vermilion border, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:608540
Constricting Bands, Congenital
Encephalocele, Facial cleft, Gastroschisis, Hand polydactyly, Ectopia cordis, Abnormal rib cage m... OMIM:217100
Spinocerebellar Ataxia 48
Gait ataxia, Chorea, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Bilateral tonic-clon... OMIM:618093
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Seizure, Resting tremor, Parkinsonism, Limb dystonia, Torticollis, Craniofacial dyst... ORPHA:71517
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Genu valgum, Coxa vara, Short femoral neck, Abnormality of the epiphysis o... ORPHA:93316
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gait ataxia, Spasticity, Hemiballismus, Seizure, Inability to walk, Parkinsonism, Truncal ataxia,... OMIM:618877
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Tongue fasciculations, Amyotrophic lateral sclerosis, Tongue atrophy OMIM:613435
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Urethral stricture, Abnormality of the bladder, Dehydration, Pneumonia, Multicystic... ORPHA:79404
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Meckel Syndrome, Type 3
Polydactyly, Hydrocephalus, Postaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate,... OMIM:607361
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Patent foramen ovale, Flexion contracture, Muscle... OMIM:616866
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Lumbar kyphosis, S... OMIM:253000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Hydroureter, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Hypercalciuria OMIM:615398
Polyhydramnios, Hydrops fetalis, Long philtrum, Thickened nuchal skin fold, Umbilical hernia ORPHA:932
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Seizure, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612716
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Horizontal ribs, Bell-shaped thorax, Short ribs, Irregular chondrocostal ... OMIM:187760
Caudal Regression Syndrome
Vesicoureteral reflux, Arrhinencephaly, Missing ribs, Renal agenesis, Anal atresia, Pulmonary hyp... ORPHA:3027
Congenital Tracheomalacia
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... ORPHA:95430
Folinic Acid-Responsive Seizures
Chorea, Delayed myelination, Seizure, Cerebral hypomyelination, Generalized myoclonic seizure, St... ORPHA:79097
Leukodystrophy, Hypomyelinating, 2
Seizure, Progressive spasticity, Rigidity, Leukodystrophy, Cerebral hypomyelination, Choreoatheto... OMIM:608804
Waardenburg Syndrome Type 1
Meningocele, Underdeveloped nasal alae, Mandibular prognathia, Wide nasal bridge, Spina bifida, S... ORPHA:894
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Progress... OMIM:604326
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Ventricular septal defect, Umbilical hernia ORPHA:2143
Trisomy 13
Hydrops fetalis, Ventricular septal defect, Long philtrum, Atrial septal defect, Median cleft lip... ORPHA:3378
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Ankle clonus, Seizure, Resting tremor, Babinski sign, Spastic paraparesis, Scissor ga... ORPHA:363654
Vacterl With Hydrocephalus
Retrognathia, Polyhydramnios, Femoral hernia, Aqueductal stenosis, Absence of the sacrum, Spina b... ORPHA:3412
White Forelock With Malformations
Finger syndactyly, Deep philtrum, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal ... ORPHA:2475
Ochoa Syndrome
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Renal insufficie... ORPHA:2704
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Chorea, Resting tremor, Parkinsonism, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Delayed ... OMIM:619725
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Bilateral lung agenesis, Diaphragmatic eventration, Truncus arteri... OMIM:601186
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Joubert Syndrome 18
Lobulated tongue, Arrhinencephaly, Camptodactyly, Cleft palate, Occipital encephalocele, Trident ... OMIM:614815
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Generalized ... ORPHA:2790
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted... ORPHA:90117
Colorectal Cancer
Renal cell carcinoma, Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma OMIM:114500
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Wide nas... ORPHA:508498
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Short 5th finger, Clinodactyly of the 5th finger, Oligohydramnios, Syndactyly, Small... ORPHA:397590
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Pallister-Hall Syndrome
Short 4th metacarpal, Toe syndactyly, Hip dislocation, Holoprosencephaly, Postaxial hand polydact... OMIM:146510
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Spinal dysraphism, Encephalo... ORPHA:1908
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Micrognathia, Elbow contracture, Pectus excavatum, Broad hallux, Short hallux, Sh... OMIM:304120
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Apnea, Split hand, Respiratory failure, Neonatal death OMIM:610127
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Intestinal malrotation, Intestinal pseudo... OMIM:300048
Nephronophthisis 20
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... OMIM:617271
Thoracoabdominal Syndrome
Ventral hernia, Ectopia cordis, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Omphalocel... OMIM:313850
Dystonia 12
Parkinsonism, Torticollis, Tremor, Unsteady gait, Dystonia, Bradykinesia OMIM:128235
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Seizure, Hemiparesis, Focal-onset seizure, Status epilepticus, Ataxia, Tremor, Intent... OMIM:614307
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Hydronephrosis, Genu valgum, Coxa valga, Narrow ... OMIM:309350
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Familial Dyskinesia And Facial Myokymia
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Difficulty walking, Dystonia ORPHA:324588
Multiple Epiphyseal Dysplasia, Lowry Type
Genu valgum, Fragmented epiphyses, Epiphyseal dysplasia, Dislocated radial head, Flattened epiphy... ORPHA:166016
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Slender long bone, Nonimmune hydrops fetalis, Brachydactyly, Cleft palate, Craniosynostosis, Thin... OMIM:618265
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Spasticity, Onion bulb formation, Babinsk... OMIM:609260
Isolated Hemihyperplasia
Myelomeningocele, Asymmetry of the thorax, Abnormality of the dentition ORPHA:2128
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Median cleft lip, Split foot, Sp... DECIPHER:46
46,Xy Sex Reversal 4
High palate, Renal dysplasia, Anal atresia, Ureteropelvic junction obstruction, Cleft palate, Hyd... OMIM:154230
Frontofacionasal Dysplasia
Encephalocele, Depressed nasal ridge, Short stature, Facial cleft, Short nose, Dimple on nasal ti... ORPHA:1791
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Slender long bone, Abnormal palate morphology, Abnormal pelvic girdle bo... ORPHA:1506
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Aplasia/Hypoplasia of the lungs, Abnormality of the upper urinary tract, Oligo... ORPHA:2145
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Hydrops Fetalis
Polyhydramnios, Lymphedema, Pericardial effusion, Increased placental thickness, Nonimmune hydrop... ORPHA:1041
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Fetal akinesia sequence, Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:618815
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Seizure, Postural tremor, Leukodystrophy, Ataxia, Babinski sign, Dysmetria, Loss of a... OMIM:607694
Diastrophic Dysplasia
Genu valgum, Hip contracture, Short long bone, Talipes equinovarus, Short finger, Ulnar deviation... OMIM:222600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat... OMIM:276820
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary hypoplasia, Cardiomyopathy OMIM:619003