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
Hand tremor, Babinski sign, Lower limb spasticity, Progressive spastic paraplegia, Spastic gait, ... ORPHA:401840
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Leukodystrophy, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity... OMIM:614561
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula... DECIPHER:39
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis
Status epilepticus, Inability to walk, Delayed myelination, Seizure, Tetraplegia OMIM:618331
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Pectus excavatum, High, narrow palate, Cleft palate, Camptodactyl... ORPHA:957
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia, Cavitating leukodystrophy, Seizure OMIM:619061
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Intellectual Developmental Disorder, Autosomal Recessive 6
Myoclonus, Tremor, Involuntary movements, Seizure, Dystonia OMIM:611092
Microphthalmia, Syndromic 12
Ventricular septal defect, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Hypoplastic lef... 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
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Seizure, Foca... OMIM:615400
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
Epilepsy, Progressive Myoclonic, 1B
Atonic seizure, Generalized myoclonic seizure, Dysmetria, Babinski sign, Tremor OMIM:612437
Gastric Cancer
Increased level of L-fucose in urine, Stomach cancer OMIM:613659
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus, Seizure OMIM:616366
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Seizure OMIM:616921
Congenital Primary Megaureter
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... ORPHA:617
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Hypoplastic left heart, Cleft palate, Anencephaly, Aplasia/Hypoplasia of the radius... ORPHA:2476
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
Autosomal Recessive Spastic Paraplegia Type 67
Babinski sign, Lower limb spasticity, Difficulty walking, Progressive spastic paraplegia, Limb tr... ORPHA:401820
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Abnormal heart morphology, Congenital diaphragmatic hernia, Emphysema OMIM:614100
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Bilateral tonic-clonic seizure, Dyst... OMIM:618425
Periventricular Nodular Heterotopia 8
Delayed myelination, Spasticity, Seizure OMIM:618185
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Congenital diaphragmatic hernia, Flexion contracture, Emphysema ORPHA:171719
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Congenital Absence Of Upper Arm And Forearm With Hand Present
Cleft palate, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly, Abnor... ORPHA:294975
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Duplicated collecting system, Ureterocele OMIM:191650
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Lumbar hyperlordosis, Atlantoaxial dislocation, Os odontoideum, Spondylolysis, Atlantoaxial insta... OMIM:600561
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus, Seizure OMIM:616187
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2140
Primary Hyperoxaluria Type 2
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... ORPHA:93599
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog... ORPHA:70589
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Tremo... OMIM:617831
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Vertebral segmentation defect, Rib fusion, Short stature, Hemivertebrae, Spina ... OMIM:613686
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Hydrocephalus, Cleft palate, Holoprosencephaly, Postaxial hand polydactyly, Spina bifida ORPHA:945
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Abnormality of the dentition, Pectus carinatum, Radioulnar synost... ORPHA:3268
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Anal atresia, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Demyelinating peripheral neuropathy, Babinski sign, Frequent falls, Spasticity, Delayed C... OMIM:619742
Femoral-Facial Syndrome
Sprengel anomaly, Coxa vara, Rib fusion, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Cl... ORPHA:1988
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema OMIM:130700
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... ORPHA:2345
Vesicoureteral Reflux 3
Hydroureter, Vesicoureteral reflux, Hydronephrosis OMIM:613674
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Holoprosencephaly, Short femur, Anterior encephalocele, Bilateral cleft lip and ... OMIM:601357
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Talipes equinovarus, Joint contracture of the hand, Small thenar eminence, Dermatoglyphic ridges ... OMIM:211960
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Facial cleft, Neural tube defect OMIM:600776
Developmental And Epileptic Encephalopathy 97
Inability to walk, Epileptic spasm, Stereotypical hand wringing, Tremor, Seizure OMIM:619561
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Kyphosis, Rib fusion, Abnormal intervertebral disk morphology, Ano... ORPHA:2311
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Nuchal Bleb, Familial
Hydrops fetalis, Stillbirth, Fetal cystic hygroma OMIM:257350
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Overlapping toe, Pectus excavatum, Prominent sternum, Flexion contracture of finger, Macroglossia... ORPHA:254528
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor OMIM:619491
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Status epilepticus, Inability to walk, Delayed myelination, Spastic diplegia, S... OMIM:617830
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Myoclonus, Writer's cramp, Tremor, Seizure, Focal-onset seizure,... OMIM:608105
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Bila... OMIM:300423
Greenberg Dysplasia
Anterior rib punctate calcifications, Barrel-shaped chest, 11 pairs of ribs, Micromelia, Nonimmun... OMIM:215140
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Cleft palate, Midline facial cleft, Polyhydramnios, Median cleft lip, Encephalocele ORPHA:3374
Metatropic Dysplasia
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... OMIM:156530
Achondrogenesis, Type Ii
Cleft palate, Short ribs, Hydrops fetalis, Short tubular bones of the hand, Polyhydramnios, Hypop... OMIM:200610
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Bifid uvula, Hydronephrosis ORPHA:2669
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Short ribs, Flared metaphysis, Hydrops fetalis, Polyhydram... OMIM:215045
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Wheezing, Cough, Gastric ... OMIM:613490
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Leukodystrophy, Hypomyelinating, 13
Hypertonia, Ataxia, Delayed myelination, Leukodystrophy, Spasticity, Clonus OMIM:616881
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Abnormal myelination, Hand tremor, Progressive spastic paraplegia ORPHA:401835
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus, Bilateral tonic-clonic seizure, Seizure OMIM:615127
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Basal Cell Nevus Syndrome
Hydrocephalus, Hemivertebrae, Down-sloping shoulders, Mandibular prognathia, Vertebral wedging, S... OMIM:109400
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Kyphosis, Paucity of anterior horn motor neurons, Hip dysplasia, Short neck, Scolios... OMIM:611890
Nemaline Myopathy 9
High palate, Respiratory insufficiency, Scoliosis, Cleft palate OMIM:615731
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Pelvis-Shoulder Dysplasia
Hydrocephalus, Cleft palate, Absent proximal finger flexion creases, Talipes equinovarus, Aplasia... ORPHA:2839
Anophthalmia Plus Syndrome
Cleft palate, Deviation of finger, Bilateral cleft lip and palate, Facial cleft, Non-midline clef... ORPHA:1104
Abnormality of the dentition, Respiratory insufficiency, Abnormal rib morphology, Bowing of the l... ORPHA:436
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Generalized myoclonic seizure, Rigidity, Gait disturbance, Tremor, ... OMIM:618090
Neuronal Intestinal Pseudoobstruction
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia ORPHA:99811
Becker Nevus Syndrome
Rib fusion, Pectus excavatum, Micromelia, Spina bifida occulta, Abnormality of tibia morphology, ... ORPHA:64755
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, Atonic seizure, Myoclonus, Tremor, Difficulty walking, Bilateral toni... OMIM:614018
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Stillbirth, Truncus arteriosus OMIM:274210
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Severe short stature, Short neck, Scoliosis, Posterior rib fusion,... ORPHA:1797
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Polyhydramnios, Umbilical hernia, Thoracic hypoplasia, Large placenta ORPHA:254534
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Babinski sign, Spastic paraplegia, Spasticity, Abnormal myelination ORPHA:431329
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Anal atresia, Aganglionic megacolon, Hydronephrosis OMIM:235760
Achondrogenesis, Type Ib
Short ribs, Hypoplastic ilia, Hydrops fetalis, Polyhydramnios, Edema, Umbilical hernia, Stillbirt... OMIM:600972
Dysmyelination With Jaundice
Hydroureter, Hypoplasia of penis, Hydronephrosis OMIM:224250
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Unilateral absence of pectoral... OMIM:173800
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Acrofacial Dysostosis, Catania Type
Pectus excavatum, Microretrognathia, Clinodactyly of the 5th finger, Inguinal hernia, Short statu... ORPHA:1786
Spinal Muscular Atrophy, Type I
Death in childhood, Respiratory insufficiency, Tongue fasciculations, Respiratory failure, Recurr... OMIM:253300
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Congenital Anomalies Of Kidney And Urinary Tract 1
Ureteropelvic junction obstruction, Vesicoureteral reflux, Stage 5 chronic kidney disease OMIM:610805
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Gait disturbance, Tremor, Kinetic tremor OMIM:611808
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Omphalocele OMIM:601163
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Pericardial And Diaphragmatic Defect
Mitral stenosis, Pulmonary sequestration, Bicuspid aortic valve, Atrial septal defect, Congenital... ORPHA:2847
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Abnormal pyramidal sign, Progressive cerebellar ataxia, Postural tremor ORPHA:85292
Facial Clefting, Oblique, 1
Cleft upper lip, Facial cleft, Cleft palate OMIM:600251
Allergic Bronchopulmonary Aspergillosis
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Pulmonary arterial hypertension ORPHA:1164
Aicardi-Goutieres Syndrome 6
Loss of ambulation, Leukodystrophy, Rigidity, Tremor, Dystonia OMIM:615010
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Omphalocele ORPHA:2141
Rudiger Syndrome
Ureterovesical stenosis, Micropenis OMIM:268650
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Atonic seizure, Absence seizure with eyelid myoclonia, Focal impaired a... OMIM:618587
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:139466
Mosaic Trisomy 9
Hemivertebrae, Short neck, Finger clinodactyly, Ventricular septal defect, Facial cleft, Rocker b... ORPHA:99776
Camptodactyly Syndrome, Guadalajara Type 1
Narrow chest, Dental malocclusion, Short distal phalanx of finger, Pectus excavatum, Short toe, S... ORPHA:1327
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Gastroesophageal reflux, Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract inf... OMIM:191800
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... OMIM:311895
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Fetal Encasement Syndrome
Tetralogy of Fallot, Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Tremor, Difficulty walking, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Rib fusion, Contracture of the proximal interphalangeal ... OMIM:609813
Schisis Association
Anal atresia, Cleft palate, Tracheoesophageal fistula, Anencephaly, Micromelia, Unilateral cleft ... ORPHA:63862
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Dystonia 23
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Limb dystonia OMIM:614860
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Cardiomyopathy, Oligohydramnios... ORPHA:1909
Leukoencephalopathy with metaphyseal chondrodysplasia
Gait disturbance, Tremor, Babinski sign, Spastic paraplegia OMIM:300660
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... OMIM:617405
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Abnormal ... OMIM:612387
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Spastic dysarthria, Abnormal myelination, Progressive spastic paraplegia, Lower limb... ORPHA:401830
Migraine, Familial Hemiplegic, 1
Hemiplegia, Ataxia, Hemiparesis, Tremor, Seizure OMIM:141500
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis, Upper limb undergrowth OMIM:613124
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Cerebral dysmyelination, Respiratory insufficiency, Central apnea, Death in infancy, Respiratory ... OMIM:611722
Nevus Comedonicus Syndrome
Preaxial polydactyly, Spina bifida occulta, Spina bifida, Finger syndactyly, Toe syndactyly ORPHA:64754
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Vacterl Association With Hydrocephalus
Anal atresia, Hydrocephalus, Aqueductal stenosis, Absent thumb, Radial club hand, Respiratory ins... OMIM:276950
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Accessory oral frenulum, Postaxial polydactyly, Preaxial polydact... OMIM:617927
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the ... OMIM:618901
Myelomeningocele, Enlarged thorax, Cleft palate, Narrow pelvis bone, Missing ribs, Short thorax ORPHA:66637
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Seizure, Abnormality of extrapyramidal motor function OMIM:615362
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Prune Belly Syndrome
Urogenital sinus anomaly, Anal atresia, Pectus excavatum, Intestinal atresia, Intestinal malrotat... ORPHA:2970
Tremor OMIM:231950
Acropectoral Syndrome
Pectus excavatum, Preaxial polydactyly, Partial duplication of thumb phalanx, Pectus carinatum, T... OMIM:605967
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia, CNS demyelination OMIM:610245
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the uret... ORPHA:1046
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... ORPHA:2779
Developmental And Epileptic Encephalopathy 17
Delayed myelination, Generalized tonic seizure, Chorea, Athetosis, Dystonia OMIM:615473
Developmental And Epileptic Encephalopathy 91
Delayed myelination, Spasticity, Unsteady gait, Seizure OMIM:617711
Urofacial Syndrome 1
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... OMIM:236730
Fetal Parvovirus Syndrome
Hydrops fetalis, Increased nuchal translucency, Ascites, Hypertrophic cardiomyopathy ORPHA:295
Vesicoureteral Reflux, X-Linked
Vesicoureteral reflux OMIM:314550
Vesicoureteral Reflux 1
Vesicoureteral reflux OMIM:193000
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Gait disturbance, Limb dysmetria, Tremor, C... ORPHA:363710
Acrofacial Dysostosis, Weyers Type
Clinodactyly of the 5th finger, Hypodontia, Small hand, Abnormality of the dentition, Overlapping... ORPHA:952
Leukodystrophy, Hypomyelinating, 6
Ataxia, Leukodystrophy, Rigidity, Cerebral hypomyelination, Tremor, Choreoathetosis, Spasticity, ... OMIM:612438
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Seizure, Abnormality ... ORPHA:79262
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, High palate, Cleft palate, Respiratory insufficiency, Camptodactyly of fing... OMIM:614399
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... OMIM:609052
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Babinski sign, Spastic paraplegia, Tremor, Difficulty walking, Febrile seizure ... ORPHA:477673
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Short distal phalanx of finger, Bicuspid aortic valve, Anomalous p... ORPHA:1120
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Pectus excavatum, Craniosynostosis, Hemivertebrae, Short neck, Hypoplasia of the maxilla, Sacral ... OMIM:213980
Urofacial Syndrome 2
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... OMIM:615112
Hinman Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... ORPHA:84085
Hyperekplexia 4
High palate, Kyphoscoliosis, Adducted thumb, Camptodactyly, Umbilical hernia, Respiratory failure OMIM:618011
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Cleft upper lip, High, narrow palate, Cleft palate, Broad proximal phalanges of the hand, Ethmoid... OMIM:607597
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Delayed myelination, Difficulty walking, Spasticity, Seizure OMIM:617393
Multiple Synostoses Syndrome 3
Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos... OMIM:612961
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Absent glenoid fossa, Clinodac... ORPHA:96334
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Inability to walk... ORPHA:2590
Mosaic Trisomy 16
Wide mouth, Meckel diverticulum, Single umbilical artery, Premature birth, Syndactyly, Short femo... ORPHA:1708
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Facial cleft, Bowing of the long bones, Intrauterine growth retardation, S... ORPHA:1505
Sprengel Deformity
Abnormality of the shoulder girdle musculature, Shoulder muscle hypoplasia, Abnormal shoulder mor... ORPHA:3181
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Otopalatodigital Syndrome Type 2
Cleft palate, Ureteral obstruction, Pulmonary hypoplasia, Bowing of the long bones, Encephalocele... ORPHA:90652
Leukodystrophy, Hypomyelinating, 11
Ataxia, Leukodystrophy, Myoclonus, Tremor, Spasticity, CNS hypomyelination OMIM:616494
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... ORPHA:93316
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:600116
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Coronal cleft vertebrae, Cleft palate, Bifid humerus, Horizontal sacrum, In... OMIM:256050
Exostoses, Multiple, Type Ii
Coxa vara, Scapular exostoses, Madelung-like forearm deformities, Genu valgum, Rib exostoses, Pro... OMIM:133701
Exostoses, Multiple, Type I
Coxa vara, Scapular exostoses, Madelung-like forearm deformities, Genu valgum, Rib exostoses, Pro... OMIM:133700
Fibrochondrogenesis 1
Cleft palate, Dumbbell-shaped long bone, Posterior rib cupping, Short long bone, Widely patent co... OMIM:228520
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Focal motor seizure, Akinesia, Freezing of gait, Clumsiness, Bradykinesia, Resting tremor, Parkin... OMIM:619911
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Hiatus hernia, Postnatal growth retardation, Promine... OMIM:304050
Infantile Sialic Acid Storage Disease
High palate, Metaphyseal irregularity, Gingival overgrowth, Hydrocephalus, Hydrops fetalis, Ascit... OMIM:269920
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Weakness of facial musculature, Short neck, Down-sloping shoulders, ... OMIM:265000
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... OMIM:102510
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Gingival overgrowth, Short neck, Gingival fibromatosis, Median cleft lip an... ORPHA:1832
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Achondrogenesis Type 1A
Multiple rib fractures, Thickened nuchal skin fold, Hydrops fetalis, Long philtrum, Polyhydramnio... ORPHA:93299
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Severe short stature, Short... OMIM:277300
Achondrogenesis Type 1B
Thickened nuchal skin fold, Hydrops fetalis, Long philtrum, Abnormal rib morphology, Polyhydramni... ORPHA:93298
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Seizure, Dystonia OMIM:615924
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Cleft palate, Short 5th finger, Facial cleft, ... OMIM:239800
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Intraalveolar phosp... OMIM:265120
Parkinson Disease 19A, Juvenile-Onset
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... OMIM:615528
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Status epilepticus, Ataxia, Action tremor, Focal motor seizure, Poor coordinati... OMIM:617665
Autosomal Recessive Multiple Pterygium Syndrome
Vertebral segmentation defect, Rib fusion, Intrauterine growth retardation, Pectus excavatum, Abn... ORPHA:2990
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Poor fine motor coordination, Focal imp... ORPHA:36387
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormality of the pulmonary artery, Congenital diaphragmatic hernia, ... ORPHA:1166
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Pectus excavatum, Postaxial polydactyly, Adducted thumb, Overlapp... OMIM:618167
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Metaphyseal irregularity, Dislocated radial head, Flat capital femoral epiphysis, Slender distal ... OMIM:603546
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the tongue, Abnormal ... ORPHA:2759
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Metaphyseal cupping, Cleft palate, Hydrops fetalis, Hypoplasia of... ORPHA:85166
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Generalized myoclonic seizure, Rigidity, Tremor, Bilateral tonic-clonic sei... OMIM:617836
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Bradykinesia, Resting tremor OMIM:616710
Leukodystrophy, Hypomyelinating, 9
Ataxia, Dysmetria, Intention tremor, Leukodystrophy, Spasticity, Abnormality of extrapyramidal mo... OMIM:616140
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia, Seizure OMIM:617862
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Nephronophthisis, Cone-s... ORPHA:474
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Oculomaxillofacial Dysostosis
Cleft palate, Adducted thumb, Abnormality of the dentition, Camptodactyly of finger, Abnormality ... ORPHA:1794
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... OMIM:617284
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Pulmonary hypoplasia OMIM:614096
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Pul... OMIM:616867
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Lethal Congenital Contracture Syndrome 10
High palate, Narrow palate, Adducted thumb, Overriding aorta, Overlapping fingers, Long philtrum,... OMIM:617022
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Status epilepticus, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic se... ORPHA:330050
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Corticobasal Syndrome
Akinesia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Renal hypoplasia/aplasia, Gastroesophageal reflux, Morphological abnormality of the... ORPHA:1834
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Knee flexion contracture, Pulmonary hypoplasia, Arthrogrypo... OMIM:616531
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Cleft palate, Short femur, Short ribs, Adducted thumb, Flared metaphy... OMIM:616897
Kagami-Ogata Syndrome
Pursed lips, Coat hanger sign of ribs, Premature birth, Bell-shaped thorax, Polyhydramnios, Broad... ORPHA:254519
Disorganization, Mouse, Homolog Of
Cleft upper lip, Cleft palate, Limb duplication, Hand polydactyly, Hip dislocation OMIM:223200
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Hyperextensibility of the finger joints, Respiratory insufficiency, Platyspondyly, Tape... OMIM:313420
Jawad Syndrome
Thoracic scoliosis, Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent ... OMIM:251255
Loeys-Dietz Syndrome 4
High palate, Spondylolisthesis, High, narrow palate, Eosinophilic infiltration of the esophagus, ... OMIM:614816
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Po... OMIM:615633
Schneckenbecken Dysplasia
Metaphyseal irregularity, Advanced ossification of carpal bones, Cleft palate, Short ribs, Anteri... OMIM:269250
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture OMIM:122850
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, Limb dystonia, P... ORPHA:210571
Cerebrofaciothoracic Dysplasia
Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Narrow chest, Bifid ribs, Short stat... ORPHA:1394
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Generalized-onset seizure, Hand tremor, Focal-onset seizure ORPHA:86814
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Flexion contracture, Scapular winging, Camptodactyly, Distal arthrogryposis, Pul... OMIM:617468
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Anal atresia, Renal hypoplasia/aplasia, Intestinal malrotation, Tracheo... ORPHA:2973
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Atrial septal defect, Abnormal rib cage morphology, Short stature, Hemivertebra... OMIM:608406
Aplasia Cutis Congenita
Spinal dysraphism, Finger syndactyly, Toe syndactyly ORPHA:1114
Primary Pulmonary Hypoplasia
Cleft palate, Ureteral stenosis, Pulmonary hypoplasia, Abnormal pulmonary artery morphology, Pneu... ORPHA:2257
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Syndactyly, Poly... OMIM:613005
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate, Hand oligodactyly OMIM:172880
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Neonatal death, Pulmonary hypoplasia, Arthrogryposis multiplex con... OMIM:253310
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Neonatal death, Hydronephrosis, Fetal megacystis, Microcolon, Megacystis OMIM:619362
Fountain Syndrome
Short distal phalanx of finger, Kyphosis, Metaphyseal dysplasia, Pectus excavatum, Facial edema, ... ORPHA:3219
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Cat-Eye Syndrome
Anal atresia, Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis ORPHA:195
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... ORPHA:99657
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait OMIM:615768
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Short 1st metacarpal, Respiratory insufficiency, Metaphyseal wide... OMIM:135100
Fibular Hemimelia
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Disproport... ORPHA:93323
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Overlapping fingers, Congenital hip dislocation, Scoliosis, Respiratory failure, Respir... OMIM:618291
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the legs, Narrow mouth, Hydrocephalus, Cleft palate, Short ribs, Single umbilical arter... ORPHA:1865
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Meckel Syndrome, Type 1
Wide mouth, Hydrocephalus, Cleft palate, Anencephaly, Lobulated tongue, Bowing of the long bones,... OMIM:249000
Spinocerebellar Ataxia 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Unsteady ... OMIM:616053
Immunodeficiency 95
Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon... OMIM:619773
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Short distal phalanx of finger, Cleft palate, Short ribs, Postaxial polydactyly, Sho... OMIM:614091
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Atonic seizure, Myoclonus, Rigidity, Progressive extrapyramidal ... OMIM:612736
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Status epilepticus, Ataxia, Delayed myelination, Involuntary movements, Spasticity, Multifocal se... OMIM:615905
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity, Seizure OMIM:600363
Bor Syndrome
Renal hypoplasia/aplasia, Cleft palate, Multicystic kidney dysplasia, Ureteropelvic junction obst... ORPHA:107
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Heart-Hand Syndrome Type 2
Abnormal palate morphology, Abnormal clavicle morphology, Abnormal morphology of ulna, Asymmetry ... ORPHA:1350
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Meckel Syndrome, Type 8
Cleft upper lip, Talipes equinovarus, Cleft palate, Polydactyly, Postaxial hand polydactyly, Ence... OMIM:613885
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia, Hydrops fetalis, Ventricular septal defect, Polyhydramnios,... ORPHA:3405
Czeizel-Losonci Syndrome
High palate, Ectrodactyly, Myelomeningocele, Hydrocephalus, Split foot, Thickened nuchal skin fol... ORPHA:2437
Fanconi Anemia, Complementation Group O
Anal atresia, Neonatal death, Renal cyst, Hydronephrosis, Rectal atresia, Stage 5 chronic kidney ... OMIM:613390
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Stomach cancer, Enlarged poly... ORPHA:2869
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, H... ORPHA:1263
Occipital Horn Syndrome
Narrow chest, Bladder diverticulum, Short clavicles, Pectus excavatum, Coxa valga, High palate, H... OMIM:304150
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema OMIM:618307
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck, Disprop... OMIM:608681
Nephrolithiasis, Calcium Oxalate
Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Acute kidney injury, Hyperox... OMIM:167030
Pontocerebellar Hypoplasia, Type 2D
Delayed myelination, Chorea, Clonus, Spastic tetraplegia, Seizure OMIM:613811
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Neonatal death, Endocardial fibroelastosis OMIM:276822
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ... OMIM:270500
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Developmental And Epileptic Encephalopathy 16
Status epilepticus, Delayed myelination, Abnormality of extrapyramidal motor function, Myoclonus,... OMIM:615338
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ... OMIM:180800
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus ORPHA:1931
Meckel Syndrome, Type 11
Oligohydramnios, Occipital encephalocele, Polydactyly OMIM:615397
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Tip-toe gait, Dysmetria, Intention tremor, Babinski sign, Abnorma... ORPHA:397946
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Gait atax... ORPHA:423275
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Motor tics, Myoclonus, ... OMIM:619725
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Seizure OMIM:612016
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Slender finger, Long toe, Increased laxity of fingers, Adducted thumb, Spinal rigidity,... ORPHA:75840
Arthrogryposis, Distal, Type 1C
High palate, Metacarpophalangeal joint contracture, Narrow mouth, Clinodactyly of the 5th finger,... OMIM:619110
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Intestinal malrotation, Hydroureter, Hydronephrosis, Microcolon, Megacystis OMIM:619431
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Wide mouth, Hydrocephalus, Congenital hip dislocation, Oral cleft... ORPHA:1647
Cloacal Exstrophy
Anal atresia, Renal hypoplasia/aplasia, Hypoplasia of penis, Ureterocele, Intestinal malrotation,... ORPHA:93929
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Limited pronation/supination of forearm, Cleft palate, Hydrops fetalis, Overlapping fingers, Radi... OMIM:616738
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Desmoid Tumor
Malabsorption, Desmoid tumors, Abnormality of the upper urinary tract, Intestinal obstruction, In... ORPHA:873
Robinow Syndrome, Autosomal Recessive 1
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Short neck, Duplic... OMIM:268310
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Onion bulb formation, Myelin outfoldings, Tremo... OMIM:607734
Spondylocostal Dysostosis 5
Butterfly vertebrae, Severe short stature, Hemivertebrae, Short neck, Scoliosis, Posterior rib fu... OMIM:122600
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Multiple Mitochondrial Dysfunctions Syndrome 5
Leukodystrophy, Delayed myelination, Spasticity, Seizure OMIM:617613
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Limb ataxia, Babinski sign, Spastic dysarthria, Lower limb spasticity, Tremor, Diffic... ORPHA:251282
Bare Lymphocyte Syndrome, Type I
Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiectasis OMIM:604571
Gordon Syndrome
High palate, Clinodactyly of the 5th finger, Pectus excavatum, Cleft palate, Camptodactyly of fin... ORPHA:376
Asbestos Intoxication
Oxygen desaturation on exertion, Interlobular septal thickening, Lung adenocarcinoma, Reduced vit... ORPHA:2302
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Dysmetria, Myoclonus, Tremor, Lowe... OMIM:619028
Developmental And Epileptic Encephalopathy 54
Delayed myelination, Seizure OMIM:617391
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Preeclampsia, Hydrops fetalis, Polyhydramnios, Pericarditis, Oligohydramnios ORPHA:163596
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Gait... ORPHA:216873
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Split foot, Cleft palate, Syndactyly, Broad hallux, Triphalangea... OMIM:183600
Spinal Muscular Atrophy, Jokela Type
Tremor, Difficulty walking, Fasciculations OMIM:615048
Mulibrey Nanism
Myocardial fibrosis, Dental malocclusion, Hypodontia, Hydrops fetalis, Thickened cortex of long b... OMIM:253250
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Seizure, Dystonia OMIM:261630
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... ORPHA:3104
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Atonic seizure, Dysmetria, Myoclonic seizure, Tremor, Gait ataxia, Bilateral t... OMIM:617810
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Bilateral lung agenesis, Ventricular septal defect, Pulmonary hy... OMIM:611812
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Ataxia, Inability to walk, Delayed myelination, Generalized myoclonic seizure, ... OMIM:616756
Cerebrooculonasal Syndrome
High palate, U-Shaped upper lip vermilion, Long philtrum, Microdontia, Postaxial hand polydactyly... ORPHA:66625
Myelomeningocele, Anal atresia, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphis... ORPHA:63260
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Fetal megacystis, Hydroureter, Intestinal malrotation OMIM:249210
Prune Belly Syndrome
Anal atresia, Hydroureter, Xerostomia, Hydronephrosis, Urethral valve, Congenital posterior ureth... OMIM:100100
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Nephrolithiasis, Hydroureter, Vesicoureteral reflux, Pyloric stenosis OMIM:617219
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Pulmonary hypoplasia OMIM:615228
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Ureteral atresia, Hydronephrosis OMIM:183802
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Intestinal malrotation, Camptodactyly of finger, Dextrocardia, Missing ribs, D... ORPHA:1759
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized myoclonic seizure, Myoclonus, Tongue fasciculations, Frequent falls, Tremor, Difficul... OMIM:159950
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Decreased DLCO, Genu valgum, Emphysema, Pulmonary fibrosis OMIM:618913
Trisomy 1Q
Anal atresia, Narrow mouth, Hydrocephalus, Cleft palate, Arachnodactyly, Camptodactyly of finger,... ORPHA:261344
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Atrial septal defect, Cleft palate, Postaxial polydactyly, Preaxial polydactyly, S... OMIM:616546
Limb Body Wall Complex
Hydrocephalus, Cleft palate, Aplasia of the proximal phalanges of the hand, Anencephaly, Broad ha... ORPHA:2369
Hydrolethalus Syndrome 2
Hydrocephalus, Cleft palate, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly,... OMIM:614120
Aphalangy With Hemivertebrae
Ventricular septal defect, Pulmonary hypoplasia OMIM:207620
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Au-Kline Syndrome
High palate, Overlapping toe, Pectus excavatum, Cleft palate, Postaxial polydactyly, Thickened nu... OMIM:616580
X-Linked Intellectual Disability, Schimke Type
High palate, Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Bladder Exstrophy
Abnormality of the anus, Hypoplasia of penis, Intestinal malrotation, Abnormality of the ureter, ... ORPHA:93930
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Meckel Syndrome, Type 2
Cleft palate, Intestinal malrotation, Anencephaly, Polydactyly, Postaxial hand polydactyly, Bowin... OMIM:603194
Autosomal Recessive Robinow Syndrome
Wide mouth, Pectus excavatum, Abnormality of the dentition, Short philtrum, Pectus carinatum, San... ORPHA:1507
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Scoliosis, Neuropathic spinal arthropathy, Decreased cervical spine mo... ORPHA:370968
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Cerebrocostomandibular Syndrome
Posterior rib gap, Myelomeningocele, Kyphosis, Clinodactyly of the 5th finger, Cleft palate, Trac... ORPHA:1393
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia, Arthrogryposis multiplex congenita OMIM:601809
Metatropic Dysplasia
Narrow chest, Kyphosis, Hydrocephalus, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Abn... ORPHA:2635
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Hydrocephalus, Femoral bowing, Short 1st metacarpal, 11 pairs... OMIM:114290
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:125520
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor OMIM:302500
Congenital Disorder Of Glycosylation, Type Ik
Thin vermilion border, Nonimmune hydrops fetalis, Cardiomyopathy, Abnormality of the amniotic fluid OMIM:608540
Thanatophoric Dysplasia, Type Ii
Metaphyseal irregularity, Small abnormally formed scapulae, Wide-cupped costochondral junctions, ... OMIM:187601
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... ORPHA:521406
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Delayed CNS myelination, Tremor, Spasticity, Seizure OMIM:300983
Meier-Gorlin Syndrome 1
Respiratory distress, High palate, Cleft palate, Absent glenoid fossa, Hemivertebrae, Microdontia... OMIM:224690
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Nail-Patella Syndrome
Cleft upper lip, Hypoplasia of first ribs, Clinodactyly of the 5th finger, Disproportionate promi... OMIM:161200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Ureteral stenosis, Hypercalciuria, Renal cyst, Nephrocalcinosis OMIM:615398
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy, Delayed myelination, Seizure OMIM:613886
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Syndactyly, Neonatal death, Hypoplasia of the ulna, Respiratory failure OMIM:228940
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Gait disturbance, Tremor, Progressive spasticity OMIM:210000
Spinocerebellar Ataxia 19
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... OMIM:607346
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Bardet-Biedl Syndrome 7
Narrow mouth, 2-3 toe syndactyly, Postaxial polydactyly, Polydactyly, Clinodactyly OMIM:615984
Lymphatic Malformation 12
Fetal pericardial effusion, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios, Lymphedema... OMIM:620014
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, H... OMIM:618877
Dysplastic Cortical Hyperostosis
Polyhydramnios, Hydrops fetalis, Abnormality of limb bone morphology ORPHA:2204
Orofaciodigital Syndrome Xv
Lobulated tongue, Hydronephrosis OMIM:617127
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Congenital diap... ORPHA:3097
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Atrial septal defect, Congenital diaphragmatic hernia, Hand polydactyly, Craniosynost... ORPHA:261197
Cardiomyopathy, Familial Restrictive, 6
Pulmonic stenosis, Restrictive cardiomyopathy, Hydrops fetalis, Ascites OMIM:619433
Neu-Laxova Syndrome 2
Micrognathia, Short neck, Scoliosis, Polyhydramnios, Edema, Rocker bottom foot, Spina bifida, Int... OMIM:616038
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Hiatus hernia, Prominence of the premaxilla, Small h... ORPHA:50
Castleman Disease
Follicular hyperplasia, Mediastinal lymphadenopathy, Ureteral obstruction, Hematuria, Abnormality... ORPHA:160
Caudal Duplication
Myelomeningocele, Vertebral segmentation defect, Bifid sacrum, Omphalocele, Abnormal sacrum morph... ORPHA:1756
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... ORPHA:266
Focal Dermal Hypoplasia
Abnormal cardiac septum morphology, Telangiectasia of the skin, Ventricular septal defect, Hypopl... ORPHA:2092
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Ataxia, Inability to walk, Delayed myelination, Chorea, Involuntary movements, Seizure, Dystonia OMIM:617804
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia ORPHA:98763
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination OMIM:213200
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Infantile spasms, Spasticity OMIM:278780
Caudal Regression Syndrome
Anal atresia, Abnormal iliac wing morphology, Renal agenesis, Abnormality of the ureter, Ureteral... ORPHA:3027
Thickened nuchal skin fold, Hydrops fetalis, Long philtrum, Polyhydramnios, Umbilical hernia ORPHA:932
Myelomeningocele, Hydrocephalus, Congenital diaphragmatic hernia, Holoprosencephaly, Anencephaly,... ORPHA:63259
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Abnormal lung lobation, Pulmonary hypoplasi... OMIM:263210
Kyphomelic Dysplasia
Narrow chest, Undulate ribs, Anterior rib cupping, Micromelia, Large hands, Missing ribs, Bowing ... ORPHA:1801
Orofaciodigital Syndrome Iv
High palate, Accessory oral frenulum, Pectus excavatum, Cleft palate, Postaxial polydactyly, Shor... OMIM:258860
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger ORPHA:1937
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal fingertip morphology, Ureteral obstruction, Urinary retention, Pneumonia, Gastrointestin... ORPHA:79404
Orofaciodigital Syndrome Vi
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... OMIM:277170
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:2790
Constricting Bands, Congenital
Abnormal rib cage morphology, Syndactyly, Scoliosis, Bladder exstrophy, Ectopia cordis, Facial cl... OMIM:217100
Trisomy 13
Ectrodactyly, Atrial septal defect, High, narrow palate, Cleft palate, Abnormality of the dentiti... ORPHA:3378
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Congenital diaphragmatic hernia, Inguinal he... OMIM:601186
Alpha-Methylacyl-Coa Racemase Deficiency
Status epilepticus, Ataxia, Intention tremor, Hemiparesis, Tremor, Spasticity, Seizure, Focal-ons... OMIM:614307
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... ORPHA:90117
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Limb... ORPHA:71517
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Neonatal death, Split hand, Respiratory failure OMIM:610127
Meckel Syndrome, Type 3
Hydrocephalus, Cleft palate, Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly,... OMIM:607361
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Cleft palate, Vesicoureteral reflux, Hydronephrosis OMIM:618265
Silver-Russell Syndrome Due To A Point Mutation
Ectrodactyly, Clinodactyly of the 5th finger, Cleft palate, Syndactyly, Polydactyly, Short 5th fi... ORPHA:397590
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Bilateral tonic-clon... OMIM:618093
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Short ribs, Metaphyseal widening, Prenatal maternal abnormalit... OMIM:187760
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Tracheoesophageal fistula, Pulmonary hypoplasia, Pneumonia... ORPHA:95430
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Tongue fasciculations, Respiratory failure, Tongue atrophy OMIM:613435
Melnick-Needles Syndrome
Narrow chest, Short distal phalanx of finger, Short clavicles, Pectus excavatum, Cone-shaped epip... OMIM:309350
Null Syndrome
Ataxia, Inability to walk, Demyelinating peripheral neuropathy, Progressive spastic quadriplegia,... ORPHA:280234
Folinic Acid-Responsive Seizures
Broad-based gait, Hypertonia, Ataxia, Status epilepticus, Delayed myelination, Clonic seizure, Ge... ORPHA:79097
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... OMIM:253000
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Prominent sternum, Platyspondyly, Carious teet... OMIM:253010
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragmatic eventrati... OMIM:616866
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Ve... ORPHA:2704
Donnai-Barrow Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Umbilical hernia, Omphalocele ORPHA:2143
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai... OMIM:617435
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Abnormal pyramidal sign, Tremor, Unsteady gait, Seizure, Incoordination OMIM:614947
Developmental And Epileptic Encephalopathy 14
Status epilepticus, Delayed myelination, Spasticity, Clonus, Tetraplegia OMIM:614959
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... OMIM:604326
White Forelock With Malformations
Sprengel anomaly, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal rib morphology, ... ORPHA:2475
Gabriele-De Vries Syndrome
Tremor, Dystonia, Delayed myelination, Waddling gait OMIM:617557
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Spasticity, Seizure, Oculomotor apraxia, Dystonia OMIM:612716
46,Xy Sex Reversal 4
High palate, Anal atresia, Cleft palate, Renal dysplasia, Ureteropelvic junction obstruction, Hyd... OMIM:154230
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Colorectal Cancer
Renal cell carcinoma, Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Camptodactyly of finger, Bowing of th... OMIM:249710
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Hydronephrosis, Intestinal pseudo-obstruction, Congenit... OMIM:300048
Leukodystrophy, Hypomyelinating, 2
Ataxia, Focal impaired awareness seizure, Demyelinating motor neuropathy, Spastic paraparesis, In... OMIM:608804
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia OMIM:128235
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:300978
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Choreoathetosis, Seizure, Dystonia OMIM:261640
Igg4-Related Kidney Disease
Abnormal ureter morphology, Urethritis, Lymphadenitis, Ureteral obstruction, Hematuria, Renal int... ORPHA:449395
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate, Death in infancy OMIM:258320
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Intestinal atresia, Leukodystrophy, Overlapping fingers, Inflammation of the large inte... OMIM:619708
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ectopia cordis, Ventral hernia, Pulmonary hypoplasia, Transposit... OMIM:313850
Craniosynostosis, Herrmann-Opitz Type
Cleft palate, Abnormality of the upper urinary tract, Abnormality of the urethra, Brachydactyly, ... ORPHA:2145
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:617102
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Onion bulb formation, Babinski sign, Tremor, Decreased number of peripheral myelinate... OMIM:609260
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Developmental And Epileptic Encephalopathy 42