Not currently registered for phenotyping at IMPC

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

Gene Summary

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

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
Abnormal myelination, Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressiv... ORPHA:401840
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Leukodystrophy, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait ... OMIM:614561
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Periventricular Nodular Heterotopia 8
Seizure, Delayed myelination, Attention deficit hyperactivity disorder, Spasticity OMIM:618185
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis
Inability to walk, Delayed myelination, Seizure, Status epilepticus, Tetraplegia OMIM:618331
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida, Tarsal synostosis, Broad thumb, Synostosis of carpal bones... ORPHA:957
Congenital unilateral pulmonary hypoplasia
Abnormality of the pulmonary artery, Anomalous pulmonary venous return, Aplasia/Hypoplasia of the... ORPHA:2258
Mental Retardation, Autosomal Recessive 6
Dystonia, Tremor, Seizure, Myoclonus, Involuntary movements OMIM:611092
Microphthalmia, Syndromic 12
Broad nasal tip, Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary... OMIM:615524
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Idiopathic Bronchiectasis
Respiratory tract infection, Halitosis, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infec... ORPHA:60033
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Seizure, Cavitating leukodystrophy, Spastic tetraparesis, Ataxia OMIM:619061
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Mental Retardation, Autosomal Dominant 55, With Seizures
Seizure, Tremor, Gait ataxia, Generalized myoclonic seizure OMIM:617831
Episodic Ataxia, Type 1
Episodic ataxia, Tremor, Incoordination, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Seizure, Unsteady gait, Frequent falls OMIM:616921
Gastric Cancer
Stomach cancer, Increased level of L-fucose in urine OMIM:613659
Developmental And Epileptic Encephalopathy 32
Seizure, Tremor, Myoclonus, Ataxia OMIM:616366
Epilepsy, Progressive Myoclonic, 1B
Tremor, Atonic seizure, Babinski sign, Dysmetria, Generalized myoclonic seizure OMIM:612437
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Abnormal myelination, Spastic gait, Lower limb spasticity, Limb tremor, Babin... ORPHA:401820
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Bilateral tonic-clonic seizure, Seizure, Focal sensory seizure, Focal sensory seizure wit... OMIM:615400
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Wheezing, Abnormal respiratory system morpholo... ORPHA:70589
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Lateral clavicle hook, Brachydactyly, Narrow chest OMIM:617405
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:614100
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Ventricular septal defect, Anencephaly, Non-midline cleft lip, Aplasia/Hypoplasia o... ORPHA:2476
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Congenital Absence Of Upper Arm And Forearm With Hand Present
Upper limb phocomelia, Polydactyly, Abnormal thorax morphology, Syndactyly, Abnormal hip bone mor... ORPHA:294975
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Bilateral tonic-clonic seizure, Tortico... OMIM:618425
Duplicated collecting system, Ureterocele OMIM:191650
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Bronchial wall ... OMIM:610921
Epilepsy, Progressive Myoclonic 7
Seizure, Tremor, Myoclonus, Ataxia OMIM:616187
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial instability, Spondylolysis, Os odontoideum, Lumbar hyperlordosis, Respiratory failur... OMIM:600561
Primary Hyperoxaluria Type 2
Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep... ORPHA:93599
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Abnormality of the philtrum, Finger syndactyly, Pectus carinatum, Abnormal... ORPHA:3268
Spina bifida, Postaxial hand polydactyly, Holoprosencephaly, Cleft palate, Hydrocephalus ORPHA:945
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Isolated Klippel-Feil Syndrome
Scoliosis, Spina bifida, Abnormality of the vertebral column, Ventricular septal defect, Webbed n... ORPHA:2345
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Situs inversus totalis, Rib fusion, Vertebral segmentation defect, Hemivertebrae, V... OMIM:613686
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Thoracic kyphosis, Large hands, Long toe, Cleft lip, Cleft palate OMIM:300263
Leukodystrophy, Hypomyelinating, 11
Leukodystrophy, Tremor, Ataxia, Spasticity OMIM:616494
Spinal Muscular Atrophy, Type I
Atrial septal defect, Spinal muscular atrophy, Proximal amyotrophy, Ventricular septal defect, Pr... OMIM:253300
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Seizure, Parkinsonism, Rigidity, Shuffli... OMIM:615528
Femoral-Facial Syndrome
Hip dysplasia, Long philtrum, Short femur, Maternal diabetes, Radioulnar synostosis, Sprengel ano... ORPHA:1988
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Seizure, Dysmetria, Hyperactivity, Rigidity, General... OMIM:618090
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Epilepsy, Progressive Myoclonic, 6
Tremor, Difficulty walking, Atonic seizure, Ataxia, Seizure, Generalized non-motor (absence) seiz... OMIM:614018
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Anal atresia, Ureteral agenesis OMIM:274265
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Facial cleft, Neural tube defect OMIM:600776
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory insufficiency, Cerebral dysmyelination, Respiratory failure, Death in ... OMIM:611722
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Scoliosis, Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Respira... OMIM:614399
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Seizure, Status epilepticus, Spasticity OMIM:614307
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small thenar eminence, Long philtrum, Spina bifida, Small hypothenar eminence, Camptodactyly, Joi... OMIM:211960
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Developmental And Epileptic Encephalopathy 58
Inability to walk, Delayed myelination, Spastic diplegia, Seizure, Status epilepticus, Stereotypy OMIM:617830
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Focal hemifacial clonic seizure, Focal-onset seizure, Seizure, Write... OMIM:608105
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Macroglossia, Prominent sternum, Flexion contracture of finger, Open mouth, Overl... ORPHA:254528
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Stillbirth, Broad long bones, Horizontal ribs, Hypoplastic iliac... OMIM:200610
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Squared iliac bones, Hydrops fetalis, Advanced tarsal ossification, Stillbirth, S... OMIM:215045
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal myelination, Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Short thorax, Enlarged thorax, Cleft palate, Myelomeningocele, Missing ribs, Narrow pelvis bone ORPHA:66637
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Short thorax, Anomalous pulmonary venous return, Finger synda... ORPHA:2311
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hip dysplasia, Abnormal anterior horn cell morphology, Rocker bottom foot, Scoliosis, Kyphosis, R... OMIM:611890
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Pulmonary hypoplasia, Abnormality of the diaphragm, Congenital diaphragmatic hernia,... OMIM:601163
Leukodystrophy, Hypomyelinating, 16
Leukodystrophy, Dystonia, Gait ataxia, Hypertonia, Abnormal pyramidal sign, Seizure, Dysmetria, I... OMIM:617964
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula, Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Metatropic Dysplasia
Scoliosis, Platyspondyly, Anisospondyly, Long coccyx, Flared femoral metaphysis, Abnormal metaphy... OMIM:156530
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Scoliosis, Polydactyly, Abnormal sternum morphology, Mandib... OMIM:109400
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Ventricular septal defect, Holoprosencephaly, Foot oligodactyly, Bilateral cleft lip... OMIM:601357
Leukodystrophy, Hypomyelinating, 13
Leukodystrophy, Delayed myelination, Hypertonia, Ataxia, Clonus, Spasticity OMIM:616881
Achondrogenesis, Type Ib
Polyhydramnios, Hydrops fetalis, Stillbirth, Hypoplastic ilia, Umbilical hernia, Short ribs, Edem... OMIM:600972
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Truncus arteriosus, Stillbirth OMIM:274210
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Tremor, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Neuronal Intestinal Pseudoobstruction
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia ORPHA:99811
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Spastic paraplegia, Abnormal myelination, Babinski sign, Spasticity ORPHA:431329
Abnormality of the ribs, Emphysema, Bowing of the long bones, Abnormality of the dentition, Respi... ORPHA:436
Anophthalmia Plus Syndrome
Spina bifida, Bilateral cleft lip and palate, Non-midline cleft lip, Cleft palate, Facial cleft, ... ORPHA:1104
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia, Hydronephrosis OMIM:235760
Spinocerebellar Ataxia 37
Frequent falls, Unsteady gait, Tremor, Ataxia OMIM:615945
Pelvis-Shoulder Dysplasia
Hypoplastic ischia, Acetabular dysplasia, Fifth finger distal phalanx clinodactyly, Hydrocephalus... ORPHA:2839
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Dyspnea, Panacinar emphysema, Chronic bronchitis OMIM:613490
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Fo... ORPHA:464440
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Short thorax, Posterior rib fusion, Severe short stature, Intrauterine ... ORPHA:1797
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Thoracic hypoplasia, Large placenta, Umbilical hernia, Coat hanger sign of ribs ORPHA:254534
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Acrofacial Dysostosis, Catania Type
Carious teeth, Finger syndactyly, Microretrognathia, Webbed neck, Pectus excavatum, Small hand, I... ORPHA:1786
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Ulnar Hemimelia
Radial club hand, Short forearm, Spinal dysraphism, Duplication of phalanx of 3rd finger, Aplasia... ORPHA:93320
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Nemaline Myopathy 9
Scoliosis, High palate, Respiratory insufficiency, Cleft palate OMIM:615731
Poland Syndrome
Absence of pectoralis minor muscle, Hypoplasia of serratus anterior muscle, Hypoplasia of latissi... OMIM:173800
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Becker Nevus Syndrome
Abnormality of tibia morphology, Pectus carinatum, Pectus excavatum, Upper limb asymmetry, Rib fu... ORPHA:64755
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Congenital Anomalies Of Kidney And Urinary Tract 1
Ureteropelvic junction obstruction, Vesicoureteral reflux, Stage 5 chronic kidney disease OMIM:610805
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia, Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Rigidity OMIM:617018
Mosaic Trisomy 9
Polyhydramnios, Scoliosis, Hydrops fetalis, Patent ductus arteriosus, Hemivertebrae, Dextrocardia... ORPHA:99776
Facial Clefting, Oblique, 1
Facial cleft, Cleft upper lip, Cleft palate OMIM:600251
Developmental And Epileptic Encephalopathy 34
Inability to walk, Delayed CNS myelination, Focal-onset seizure, Abnormal pyramidal sign, Focal h... OMIM:616645
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia, Spastic... ORPHA:401830
Serkal Syndrome
Pulmonic stenosis, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:139466
Rudiger Syndrome
Ureterovesical stenosis, Micropenis OMIM:268650
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign ORPHA:85292
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Partial diaphragmatic absence of pericardium, Atrial septal defect, Abno... ORPHA:2847
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Gastroesophageal reflux, Recurrent urinary tract infections, Vesicoureteral r... OMIM:191800
Aicardi-Goutieres Syndrome 6
Leukodystrophy, Dystonia, Tremor, Loss of ability to walk, Rigidity OMIM:615010
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Spina bifida, Scapular winging, Toe syndactyly, Narrow chest, Abnormal f... ORPHA:1327
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Easily subluxated first metacarpophalangeal joints, Short distal phalanx o... OMIM:311895
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Upper limb undergrowth, Nonimmune hydrops fetalis OMIM:613124
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Atonic seizure, Absence seizure with eyelid myoclonia, Chore... OMIM:618587
Lethal Osteosclerotic Bone Dysplasia
Median cleft lip and palate, Gingival fibromatosis, Short nose, Dyspnea, Respiratory distress, Re... ORPHA:1832
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Anteverted nares, Short finger, Kyphosis, Respiratory insufficiency, Wide nasal br... OMIM:313420
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the mouth, Dyspnea, Abnormality of the philtrum, Respiratory distress, Abnormal fo... ORPHA:2759
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Indomethacin Embryofetopathy
Hydrops fetalis, Atrial septal defect, Oligohydramnios, Ventricular septal defect, Premature birt... ORPHA:1909
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Developmental And Epileptic Encephalopathy 91
Seizure, Unsteady gait, Delayed myelination, Spasticity OMIM:617711
Nevus Comedonicus Syndrome
Spina bifida, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Seizure OMIM:141500
Orofaciodigital Syndrome Xviii
Genu valgum, Short philtrum, Short middle phalanx of finger, Diastema, Preaxial polydactyly, Post... OMIM:617927
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Seizure, Myoclonus, Hyperactivit... OMIM:615924
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Seizure, Myoclonus, Babinski sign OMIM:615362
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Narrow chest, Flared iliac wing, Hypoplastic frontal sinuses, Abnormality of t... ORPHA:90652
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Difficulty walking, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Sh... OMIM:609813
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Dysmetria, Babinski sign, CNS demyelination OMIM:610245
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Tremor OMIM:231950
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, Abnorma... ORPHA:2779
Atelosteogenesis, Type Ii
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Death in infancy, Respiratory insuffici... OMIM:256050
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Prune Belly Syndrome
Urogenital sinus anomaly, Congenital hip dislocation, Oligohydramnios, Hydroureter, Pectus excava... ORPHA:2970
Vesicoureteral Reflux, X-Linked
Vesicoureteral reflux OMIM:314550
Vesicoureteral Reflux 1
Vesicoureteral reflux OMIM:193000
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Febrile seizure (within the age range of 3 months to 6 years), Tremor, Diffic... ORPHA:477673
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Polyhydramnios, Joint hypermobility, Scoliosis, Craniosynostosis, Postaxial hand polydactyly, Atr... OMIM:213980
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infections, Enuresis, ... OMIM:236730
Acrofacial Dysostosis, Weyers Type
Overlapping fingers, Postaxial hand polydactyly, Abnormality of the dentition, Hypodontia, Solita... ORPHA:952
Vacterl Association With Hydrocephalus
Radial club hand, Abnormality of the vertebral column, Stillbirth, Abnormal vertebral morphology,... OMIM:276950
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Polyhydramnios, Absent glenoid fossa, Epiphyseal stippling, Narrow mouth, Narrow chest, Camptodac... ORPHA:96334
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Oligohydramnios, Sandal gap, Abnormality of the ureter, Hypospadias, Aplasia/Hypo... ORPHA:1046
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Ascites, Hypertrophic cardiomyopathy ORPHA:295
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Pectus carinatum, Osteo... OMIM:609052
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Abnormality of the metacarpal bones, Cleft palate, Glossoptosis, Ha... ORPHA:3104
Hyperekplexia 4
Camptodactyly, Umbilical hernia, Respiratory failure, Kyphoscoliosis, High palate, Adducted thumb OMIM:618011
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus, Limb dystonia OMIM:614860
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Delayed myelination, Difficulty walking, Seizure, Stereotypy, Spasticity OMIM:617393
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Secundum atrial septal defect, Hypoplastic left heart, Ventric... OMIM:618901
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Misalignment of the p... OMIM:265120
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Dystonia, Choreoathetosis, Tremor, Ataxia, Seizure, Cerebral hypomyelination, Rig... OMIM:612438
Multiple Synostoses Syndrome 3
Cutaneous syndactyly of toes, Humeroradial synostosis, Cubitus valgus, Broad thumb, Hallux varus,... OMIM:612961
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Polyhydramnios, Abnormality of long bone morphology, Narrow chest, Pol... ORPHA:1505
Hardikar Syndrome
Hydroureter, Recurrent urinary tract infections, Intestinal malrotation, Hepatomegaly, Vesicouret... OMIM:612726
Polyhydramnios, Midline facial cleft, Median cleft lip, Cleft palate ORPHA:3374
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Sprengel Deformity
Abnormal shoulder morphology, Abnormality of the shoulder girdle musculature, Shoulder muscle hyp... ORPHA:3181
Acropectoral Syndrome
Pectus carinatum, Pectus excavatum, Preaxial polydactyly, Partial duplication of thumb phalanx, T... OMIM:605967
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Gait ataxia ORPHA:423296
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Bilateral tonic-clonic seizure, Bradykinesia, Action tremor, Parkinson... OMIM:300423
Fibrochondrogenesis 1
Hydrops fetalis, Narrow mouth, Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, P... OMIM:228520
Mosaic Trisomy 16
Meckel diverticulum, Maternal diabetes, Short forearm, Preeclampsia, Large placenta, Wide mouth, ... ORPHA:1708
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Achondrogenesis Type 1A
Polyhydramnios, Long philtrum, Thickened nuchal skin fold, Hydrops fetalis, Umbilical hernia, Mul... ORPHA:93299
Achondrogenesis Type 1B
Polyhydramnios, Long philtrum, Thickened nuchal skin fold, Hydrops fetalis, Umbilical hernia, Sho... ORPHA:93298
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Acropectorovertebral Dysplasia
Toe syndactyly, Spina bifida occulta at L5, Broad thumb, Finger syndactyly, Synostosis of carpal ... OMIM:102510
Intellectual Developmental Disorder, X-Linked 104
Tremor, Delayed myelination, Ataxia, Seizure, Hyperactivity, Spasticity OMIM:300983
Schisis Association
Spina bifida, Anencephaly, Unilateral cleft lip, Anal atresia, Premature birth, Cleft palate, Tra... ORPHA:63862
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Atonic seizure, Eyelid myoclonus, Seiz... ORPHA:2590
Fanconi Anemia, Complementation Group O
Anal atresia, Hydronephrosis, Rectal atresia, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis, Hypoplastic pelvis, Hypoplastic scapulae, Bowing of the long bon... ORPHA:85166
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Abnormal tricuspid valve morphology, Diastomatomyelia, Intestinal malrot... ORPHA:1759
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Leukodystrophy, Hypomyelinating, 9
Leukodystrophy, Abnormality of extrapyramidal motor function, Ataxia, Dysmetria, Intention tremor... OMIM:616140
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Metaphyseal irregularity, Premature birth, Ascites, Gingival overgrowth, Cardiom... OMIM:269920
Aicardi Syndrome
Scoliosis, Hiatus hernia, Spina bifida, Prominence of the premaxilla, Rib fusion, Postnatal growt... OMIM:304050
Hypertelorism, Microtia, Facial Clefting Syndrome
Narrow mouth, Abnormal heart morphology, 2-3 toe syndactyly, Cleft upper lip, Cleft palate, Short... OMIM:239800
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:607688
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Preaxial hand polydactyly, Abnormal thumb morphology, Anomalous pulmonary venous re... ORPHA:1120
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Gait ataxia, Tremor, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Rib fusion, Severe short stature, Hemivertebrae, Vertebral fusion, Disproportionate sh... OMIM:277300
Kbg Syndrome
Long philtrum, Oligodontia, Thoracic kyphosis, Rib fusion, Radial deviation of finger, Clinodacty... OMIM:148050
Spinocerebellar Ataxia, Autosomal Recessive 17
Unsteady gait, Tremor, Truncal ataxia, Dysmetria OMIM:616127
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Camptodactyly of finger, Arthrogryposis multiplex congenita, Finger syndactyly, Abnorm... ORPHA:2990
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventri... ORPHA:1166
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Streaky metaphyseal sclerosis, Genu valgum, Dislocated radial head, Broad distal phalanx of finge... OMIM:603546
Asbestos Intoxication
Clubbing of fingers, Wheezing, Exertional dyspnea, Ground-glass opacification, Late inspiratory c... ORPHA:2302
Jeune Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Nephronophthisis, Postaxial hand polydacty... ORPHA:474
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short hallux, Overlapping fingers, Pectus excavatum, Postaxial polydactyly, Adducted thumb, Short... OMIM:618167
Developmental And Epileptic Encephalopathy 16
Dystonia, Delayed myelination, Abnormality of extrapyramidal motor function, Hemiparesis, Status ... OMIM:615338
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia, Hypertrophic cardiomyopathy OMIM:614096
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Epilepsy, Progressive Myoclonic, 11
Ataxia, Seizure, Myoclonus, Intention tremor, Rigidity OMIM:618876
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Myoclonic absence seizure, Ataxia, Bilateral tonic-clonic seizure, Bradykinesia... OMIM:617836
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Long philtrum, Hydrops fetalis, Narrow palate, Broad ribs, Oligohydramnios, ... OMIM:617022
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Abnormality of the dentition, Adducted thumb, Abnormality of the humerus... ORPHA:1794
Axial Mesodermal Dysplasia Spectrum
Anorectal anomaly, Morphological abnormality of the gastrointestinal tract, Oligohydramnios, Gast... ORPHA:1834
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Seizure, Tremor, Stereotypy, Ataxia OMIM:617862
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Tremor, Incoordination, Atonic sei... ORPHA:36387
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Hydroureter, Intestinal malrotation, Multicystic kidney dysplasia, Anal... ORPHA:2973
Disorganization, Mouse, Homolog Of
Limb duplication, Hand polydactyly, Cleft upper lip, Cleft palate, Hip dislocation OMIM:223200
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Lethal Congenital Contracture Syndrome 1
Arthrogryposis multiplex congenita, Neonatal death, Hypoplasia of the musculature, Pulmonary hypo... OMIM:253310
Kagami-Ogata Syndrome
Pursed lips, Polyhydramnios, Thoracic hypoplasia, Large placenta, Bell-shaped thorax, Coat hanger... ORPHA:254519
Loeys-Dietz Syndrome 4
Scoliosis, Protrusio acetabuli, Emphysema, Spondylolisthesis, Dural ectasia, Broad uvula, Bifid u... OMIM:614816
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Wormian bones, Hydrops fetalis, Short femur, Ventricular septal defect, Pleural e... OMIM:616897
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Polyhydramnios, Lateral clavicle hook, Narrow chest, Horizontal ribs, Postaxial polydactyly, Bell... OMIM:615633
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity OMIM:615768
Boomerang Dysplasia
Polyhydramnios, Abnormality of tibia morphology, Hydrops fetalis, Abnormality of femur morphology... ORPHA:1263
Cerebrofaciothoracic Dysplasia
Polyhydramnios, Scoliosis, Narrow chest, Sprengel anomaly, Rib fusion, Hemivertebrae, Short statu... ORPHA:1394
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta
Multifocal seizures, Delayed myelination, Ataxia, Status epilepticus, Involuntary movements, Spas... OMIM:615905
Aplasia Cutis Congenita
Spinal dysraphism, Toe syndactyly, Finger syndactyly ORPHA:1114
Fountain Syndrome
Scoliosis, Spina bifida, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Pectus... ORPHA:3219
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Fibular Hemimelia
Hip subluxation, Bowing of the legs, Abnormality of fibula morphology, Arthralgia of the hip, Ect... ORPHA:93323
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Anal atresia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Agenesis of permanent teeth, Polydactyly, Hypoplastic scapulae, Bowing of the lo... OMIM:614091
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormal palat... ORPHA:1350
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Seizure, Lower limb spasticity, Spastic gait, Babinski sign, Clonus OMIM:600363
Minicore Myopathy With External Ophthalmoplegia
Type 1 and type 2 muscle fiber minicore regions, Increased connective tissue, Muscular dystrophy,... OMIM:255320
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Unsteady gait, Torticollis, Parkinsonism,... ORPHA:210571
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate OMIM:172880
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Preaxial hand polydactyly, Posterior rib fusion, Atrial septal defect, Ventricular septal defect,... OMIM:608406
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Fibrodysplasia Ossificans Progressiva
Short hallux, Scoliosis, Small cervical vertebral bodies, Short 1st metacarpal, Respiratory insuf... OMIM:135100
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Roussy-Levy Hereditary Areflexic Dystasia
Gait ataxia, Action tremor, Decreased number of peripheral myelinated nerve fibers, Onion bulb fo... OMIM:180800
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Endocardial fibroelastosis, Aplasia of the ulna, Neonatal death, Hand oligodactyly OMIM:276822
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Overlapping fingers, Scoliosis, Congenital hip dislocation, Kyphosis, Respiratory insufficiency d... OMIM:618291
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Multiple renal cysts, Gastrointestinal hemorrhage, Gastrointestinal infar... ORPHA:2869
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Stomatitis OMIM:618307
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Hand tremor, Myoclonus, Generalized-onset seizure ORPHA:86814
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thoracic hypoplasia, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Thin upper lip verm... OMIM:617866
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicouret... ORPHA:107
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Nephrolithiasis, Calcium Oxalate
Ureteropelvic junction obstruction, Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperox... OMIM:167030
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Pulmonary hypop... OMIM:616867
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Bifid distal phalanx of toe, Hypoplastic sacrum, Broad thumb, Short digit, Short neck,... OMIM:268310
Czeizel-Losonci Syndrome
Thickened nuchal skin fold, 2-3 finger syndactyly, Spina bifida, Myelomeningocele, 1-2 finger syn... ORPHA:2437
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Pontocerebellar Hypoplasia, Type 2D
Delayed myelination, Chorea, Seizure, Spastic tetraplegia, Clonus OMIM:613811
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... ORPHA:423275
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Occipital Horn Syndrome
Genu valgum, Hiatus hernia, Ureteral obstruction, Broad ribs, Narrow chest, Pectus carinatum, Pec... OMIM:304150
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Pneumothorax, Pulmonary hypoplasia, Patellar hypoplasia, Ur... ORPHA:2257
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Hypertonia, Seizure, Myoclonus, Choreoathetosis OMIM:261630
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... OMIM:128230
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Br... OMIM:270500
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Nasal polyposis, Chronic sinusitis OMIM:604571
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Tremor, Difficulty walking, Focal-onset seizure, Bilateral tonic-clo... ORPHA:330050
Arthrogryposis, Distal, Type 1C
Pursed lips, Rocker bottom foot, Thin vermilion border, Shoulder flexion contracture, Camptodacty... OMIM:619110
Isolated Hemihyperplasia
Myelomeningocele, Asymmetry of the thorax, Abnormality of the dentition ORPHA:2128
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Short nose, Pectus excavatum, Hypoplasia of the ulna, Hypercalciuria, Renal cyst, Ureteral stenos... OMIM:615398
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Tremor, Myoclonus OMIM:159900
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... ORPHA:306692
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Hemivertebrae, Disproportionate short-trunk short stature, Short neck, Vertebral segm... OMIM:608681
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Split hand, Cutaneous finger syndactyly, Split foot, Spina bifida occulta, Myelomeningocele, Hydr... OMIM:183802
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Seizure, Myoclonus OMIM:612016
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Orom... OMIM:617013
Oculocerebrocutaneous Syndrome
Hand polydactyly, Congenital hip dislocation, Finger syndactyly, Wide mouth, Short distal phalanx... ORPHA:1647
Meckel Syndrome, Type 1
Postaxial hand polydactyly, Oligohydramnios, Natal tooth, Intestinal malrotation, Wide mouth, Ane... OMIM:249000
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Arthrogryposis multiplex congenita, Scapular winging, Camptodactyly, Flexion contracture, Distal ... OMIM:617468
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Arthrogryposis multiplex congenita, Anterior clefting of vertebral bodies, Congenital ... OMIM:265000
Multiple Mitochondrial Dysfunctions Syndrome 5
Seizure, Leukodystrophy, Delayed myelination, Spasticity OMIM:617613
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Bilateral lung agenesis, Pulmonary hypoplasia, Pulmonary artery stenos... OMIM:611812
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Meier-Gorlin Syndrome 6
Hip dysplasia, Delayed myelination, Short nose, Underdeveloped nasal alae, Short middle phalanx o... OMIM:616835
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Abnormal tricuspid valve morphology, Ventricular septal defect, ... ORPHA:3405
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Desmoid Tumor
Gastrointestinal hemorrhage, Desmoid tumors, Hydronephrosis, Intestinal polyposis, Abnormality of... ORPHA:873
Cloacal Exstrophy
Horseshoe kidney, Hydroureter, Intestinal malrotation, Intestinal duplication, Ureteropelvic junc... ORPHA:93929
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Seizure, Tongue fasciculations, Myoclonus, Fasciculations, Frequent f... OMIM:159950
Developmental And Epileptic Encephalopathy 54
Seizure, Delayed myelination OMIM:617391
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Erratic myoclonus, Spastic ataxia, Chorea, Abnormal pyramidal sign, Intentio... ORPHA:397946
Aphalangy With Hemivertebrae
Pulmonary hypoplasia, Ventricular septal defect OMIM:207620
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Unsteady gait, Lower limb spasticity, Dysmetria,... OMIM:616948
Cerebrocostomandibular Syndrome
Spina bifida, Posterior rib gap, Kyphosis, Death in infancy, Tracheomalacia, Meningocele, Cleft p... ORPHA:1393
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios, Preeclampsia, Hydrocephalus ORPHA:163596
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Impaired tandem gait, Lowe... OMIM:619028
Donnai-Barrow Syndrome
Short nose, Ventricular septal defect, Omphalocele, Umbilical hernia, Congenital diaphragmatic he... ORPHA:2143
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Hydrops fetalis, Narrow mouth, Increased placental thickness, Abnormal heart... ORPHA:1865
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Oculomotor apraxia, Ataxia, Seizure, Hyperactivity, Choreoathetosis, Spasticity OMIM:612716
Prune Belly Syndrome
Hydroureter, Urethral valve, Xerostomia, Anal atresia, Hydronephrosis, Congenital posterior ureth... OMIM:100100
Fanconi Renotubular Syndrome 5
Genu valgum, Pulmonary fibrosis, Emphysema, Decreased DLCO, Lung adenocarcinoma OMIM:618913
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, Short neck, Abnormal palate morphology, Kyphosis, Increased laxity of fingers, Spinal ... ORPHA:75840
Gordon Syndrome
Camptodactyly of finger, Finger syndactyly, Pectus excavatum, Cleft palate, High palate, Clinodac... ORPHA:376
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Broad thumb, Short nose, Dental crowding, Abnormality of the dentition, Umbilical ... OMIM:616331
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Tremor, Ataxia, Spasticity OMIM:615889
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Short neck, Pectus carinatum, Low back pain, Severe short statur... OMIM:122600
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor OMIM:615048
Cerebrooculonasal Syndrome
Long philtrum, Postaxial hand polydactyly, Solitary median maxillary central incisor, U-Shaped up... ORPHA:66625
Mulibrey Nanism
Enamel hypoplasia, Hydrops fetalis, Myocardial fibrosis, Dental crowding, Hypodontia, Microglossi... OMIM:253250
Primary Dystonia, Dyt2 Type
Torsion dystonia, Tremor, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Overlapping fingers, Hydrops fetalis, Radioulnar synostosis, Cleft palate, Short middle phalanx o... OMIM:616738
Obesity, Hyperphagia, And Developmental Delay
Seizure, Delayed myelination, Stereotypy OMIM:613886
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Cleft palate, Cleft upper lip, Short foot, High, narrow pal... OMIM:607597
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Dystonia, Delayed myelination, Ataxia, Seizure, Lower limb spasticity, Waddlin... OMIM:616756
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Foot oligodactyly, Clinodactyly, Syndactyly, Hand oligodactyly, ... OMIM:183600
Developmental And Epileptic Encephalopathy 17
Generalized tonic seizure, Dystonia, Delayed myelination, Chorea, Athetosis OMIM:615473
Meckel Syndrome, Type 2
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Anencephaly, Meningocele, Clef... OMIM:603194
Trisomy 1Q
Polyhydramnios, Camptodactyly of finger, Hydrops fetalis, Preaxial hand polydactyly, Narrow mouth... ORPHA:261344
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Pulmonary hypoplasia OMIM:615228
Spondylospinal Thoracic Dysostosis
Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:601809
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis, Vesicoureteral reflux, Nephrolithiasis, Hydroureter OMIM:617219
Zimmermann-Laband Syndrome 3
Triphalangeal thumb, Absent distal phalanx of the 2nd toe, Kyphosis, Aplasia of the distal phalan... OMIM:618658
X-Linked Intellectual Disability, Schimke Type
High palate, Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Anal atresia, Bifid sternum, ... ORPHA:63260
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Abno... ORPHA:2635
Bladder Exstrophy
Recurrent urinary tract infections, Intestinal malrotation, Abnormality of the ureter, Vesicouret... ORPHA:93930
Tonne-Kalscheuer Syndrome
Abnormal heart morphology, Wide nasal bridge, Pulmonary hypoplasia, Congenital diaphragmatic hern... OMIM:300978
Acrocapitofemoral Dysplasia
Narrow chest, Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st... OMIM:607778
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Au-Kline Syndrome
Hip dysplasia, Thickened nuchal skin fold, Oligodontia, Deep palmar crease, Downturned corners of... OMIM:616580
Severe Generalized Junctional Epidermolysis Bullosa
Hydroureter, Recurrent urinary tract infections, Pneumonia, Duplicated collecting system, Abnorma... ORPHA:79404
Congenital Muscular Dystrophy With Intellectual Disability
Scoliosis, Respiratory insufficiency, Abnormality of the tongue muscle, Decreased cervical spine ... ORPHA:370968
Autosomal Dominant Cutis Laxa
Emphysema, Bowel diverticulosis, Umbilical hernia ORPHA:90348
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... ORPHA:216873
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Intestinal malrotation, Fetal megacystis, Hydroureter OMIM:249210
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Congenital Disorder Of Glycosylation, Type Ik
Thin vermilion border, Cardiomyopathy, Nonimmune hydrops fetalis, Abnormality of the amniotic fluid OMIM:608540
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Abnormal cardiac septum morphology, Inguinal hernia, Congenital diaphragmatic hernia OMIM:614294
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Dystonia, Gait ataxia, Truncal ataxia, Delayed CNS myelination, Choreoathetosi... OMIM:618877
Gillessen-Kaesbach-Nishimura Syndrome
Underdeveloped nasal alae, Abnormal heart morphology, Flexion contracture, Omphalocele, Pulmonary... OMIM:263210
Sonoda Syndrome
Depressed nasal bridge, Ventricular septal defect OMIM:270460
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Humero-Radial Synostosis
Tarsal synostosis, Elbow dislocation, Elbow ankylosis, Meningocele, Aplasia/Hypoplasia of the thu... ORPHA:3265
Achondrogenesis, Type Ia
Polyhydramnios, Hypoplasia of the radius, Hydrops fetalis, Stillbirth, Beaded ribs, Hypoplastic s... OMIM:200600
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Metaphyseal irregularity, Hypoplastic ilia, Short greater sciatic notch, Wide-cupp... OMIM:187601
Meacham Syndrome
Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmonary venous return, Atrial septal... ORPHA:3097
Greig Cephalopolysyndactyly Syndrome
Wide nasal bridge, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:380
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Emphysema, Pneumothorax ORPHA:122
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary hypoplasia, Tracheomalacia, Laryngomalacia OMIM:245650
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Respiratory insufficiency, Neonatal death, Syndactyly, Respiratory failure OMIM:228940
Polyhydramnios, Long philtrum, Thickened nuchal skin fold, Hydrops fetalis, Umbilical hernia ORPHA:932
Dysplastic Cortical Hyperostosis
Polyhydramnios, Hydrops fetalis, Abnormality of limb bone morphology ORPHA:2204
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Eng-Strom Syndrome
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Edema of the dorsum of ... OMIM:274000
Orofaciodigital Syndrome Xv
Hydronephrosis, Lobulated tongue OMIM:617127
Microphthalmia, Syndromic 9
Atrial septal defect, Truncus arteriosus, Single ventricle, Ventricular septal defect, Diaphragma... OMIM:601186
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Bradykinesia, Ankle clonus, Progressive inability to walk, Parkinsonism, Babins... ORPHA:521406
Developmental And Epileptic Encephalopathy 14
Delayed myelination, Status epilepticus, Tetraplegia, Clonus, Spasticity OMIM:614959
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Bowing of the long bones... ORPHA:1801
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Myoclonus, Rigidity ORPHA:98763
Bardet-Biedl Syndrome 7
Polydactyly OMIM:615984
Diastrophic Dysplasia
Costal cartilage calcification, Hitchhiker thumb, Short finger, Irregular epiphyses, Spinal cord ... OMIM:222600
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spasticity OMIM:213200
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrops fetalis, Atrial septal defect, Preaxial polydactyly, Postaxial polydactyl... OMIM:616546
Caudal Duplication
Spina bifida, Spinal cord lesion, Omphalocele, Vertebral segmentation defect, Myelomeningocele, B... ORPHA:1756
Spinocerebellar Ataxia Type 28
Kinetic tremor, Dystonia, Gait ataxia, Head tremor, Limb ataxia, Parkinsonism, Limb dystonia, Bab... ORPHA:101109
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Dystonia, Choreoathetosis, Spastic paraparesis, Head titubation, Ataxia, Seizure,... OMIM:608804
Nail-Patella Syndrome
Limited elbow extension, Spina bifida, Triceps aplasia, Biceps aplasia, Hypoplastic radial head, ... OMIM:161200
Schneckenbecken Dysplasia
Polyhydramnios, Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Metaph... OMIM:269250
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Gait disturbance, Bilateral tonic-clonic seizure, Lower limb... ORPHA:100988
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Narrow palate, Split hand, Phocomelia, High palate, Elbow flexion contractu... OMIM:276820
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia... OMIM:300894
Fetal Minoxidil Syndrome
Depressed nasal bridge, Umbilical hernia, Ventricular septal defect ORPHA:1918
Trisomy 13
Long philtrum, Hydrops fetalis, Postaxial hand polydactyly, Atrial septal defect, Ventricular sep... ORPHA:3378
Polyhydramnios, Rocker bottom foot, Spina bifida, Arthrogryposis multiplex congenita, Hyperlordos... ORPHA:63259
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Respiratory failure, Aspirati... ORPHA:90117
Teebi-Shaltout Syndrome
Rocker bottom foot, Horseshoe kidney, Broad nasal tip, Underdeveloped nasal alae, Pectus carinatu... OMIM:272950
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Seizure, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Hydrolethalus Syndrome 2
Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Cleft palate, Hydrocephalus OMIM:614120
Silver-Russell Syndrome Due To A Point Mutation
Oligohydramnios, Polydactyly, Syndactyly, Cleft palate, Small placenta, Clinodactyly of the 5th f... ORPHA:397590
Focal Dermal Hypoplasia
Scoliosis, Abnormal dental enamel morphology, Thin skin, Split hand, Patent ductus arteriosus, Om... ORPHA:2092
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Mandi... ORPHA:2790
Limb Body Wall Complex
Short umbilical cord, Abnormal thorax morphology, Anencephaly, Aplasia/Hypoplasia involving bones... ORPHA:2369
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Hydroureter, Short distal phalanx of finger, Micropenis, Hypopla... OMIM:269150
Null Syndrome
Inability to walk, Difficulty walking, Progressive spastic quadriplegia, Demyelinating peripheral... ORPHA:280234
Polyhydramnios, Macroglossia, Narrow chest, Finger syndactyly, Micrognathia, Holoprosencephaly, O... ORPHA:3376
Proximal 16P11.2 Microdeletion Syndrome
Scoliosis, Craniosynostosis, Hand polydactyly, Atrial septal defect, Abnormal vertebral morpholog... ORPHA:261197
Aicardi Syndrome
Hip dysplasia, Hiatus hernia, Scoliosis, Prominence of the premaxilla, Rib fusion, Small hand, De... ORPHA:50
Colorectal Cancer
Renal cell carcinoma, Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma OMIM:114500
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, Respiratory insuffi... ORPHA:266
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis, Cleft palate OMIM:618265
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Tongue nodules, Short finger, Pectus excavatum, Hamartoma of to... OMIM:258860
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Inability to walk, Dystonia, Delayed myelination, Chorea, Ataxia, Seizure, Involuntary movements OMIM:617804
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Igg4-Related Kidney Disease
Pleuritis, Hematuria, Acute kidney injury, Interstitial pneumonitis, Urinary bladder inflammation... ORPHA:449395
Beta-Mercaptolactate Cysteine Disulfiduria
Genu valgum, Umbilical hernia, Sandal gap, Abnormality of the ureter, High palate, Arachnodactyly... ORPHA:1035
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Cone-shaped epiphysis, Synostosis of carpals/tarsals,... OMIM:157800
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Seizure, Babi... ORPHA:363654
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the ribs, Short nose, Oligohydramnios, Finger syndactyly, Split hand, Aplasia/Hypo... ORPHA:2145
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Melnick-Needles Syndrome
Genu valgum, Stillbirth, Narrow chest, Hypoplastic scapulae, Pectus excavatum, Recurrent respirat... OMIM:309350
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Intestinal pseudo-obstruction, Hydronephrosis, Congenital shortened small... OMIM:300048
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Hydrocephalus, Cleft palate OMIM:258320
Meier-Gorlin Syndrome 4
Narrow mouth, Emphysema, Slender long bone, Patellar aplasia, Thick lower lip vermilion OMIM:613804
Frontometaphyseal Dysplasia
Broad thumb, Short metatarsal, Short phalanx of finger, Short distal phalanx of finger, Metacarpo... ORPHA:1826
Mosaic Trisomy 14
Camptodactyly of finger, Narrow chest, Wide nasal bridge, Hypospadias, Ectopic anus, Cleft palate... ORPHA:1703
Thoracolaryngopelvic Dysplasia
Prenatal maternal abnormality, Hypoplastic pelvis, Hypoplastic iliac wing, Horizontal ribs, Bell-... OMIM:187760
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Choreoathetosis, Tremor, Hypertonia, Ataxia, Bradykinesia, Seizure, Parkinsonism, Rigidity OMIM:261640
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Tremor, Chorea, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Dysm... OMIM:618093
Temple Syndrome
Scoliosis, Short philtrum, Short foot, Clinodactyly, Small hand, Cleft palate, Bifid uvula, High ... OMIM:616222
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Vitamin K Antagonist Embryofetopathy
Macroglossia, Epiphyseal stippling, Short neck, Short nose, Punctate vertebral calcifications, Ch... ORPHA:1914
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Split hand, Wide nasal bridge, Diffuse demyelination of the cerebral ... ORPHA:168486
White Forelock With Malformations
Finger syndactyly, Abnormal palate morphology, Deep philtrum, Sprengel anomaly, Spina bifida occu... ORPHA:2475
Thoracoabdominal Syndrome
Omphalocele, Ectopia cordis, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Ventral herni... OMIM:313850
Infantile Convulsions And Choreoathetosis
Dystonia, Choreoathetosis, Experiential epileptic aura, Focal-onset seizure, Chorea, Paroxysmal d... ORPHA:31709
Satb2-Associated Syndrome Due To A Pathogenic Variant
Long philtrum, Delayed myelination, Drooling, Broad thumb, Smooth philtrum, Abnormality of the de... ORPHA:576283
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Combined Oxidative Phosphorylation Deficiency 45
Seizure, Tremor, Ataxia OMIM:618951
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral re... ORPHA:2704
Cooper-Jabs Syndrome
Camptodactyly of finger, Ventricular septal defect, Umbilical hernia, Congenital diaphragmatic he... ORPHA:1488
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Decreased number of peripheral myelinated nerve fibers, Onion bulb formation,... OMIM:609260
Mullegama-Klein-Martinez Syndrome
Bulbous nose, Wide nasal bridge, Prominent nose, Hypoplastic left heart, Congenital diaphragmatic... OMIM:301022
Autosomal Recessive Robinow Syndrome
Open bite, Broad thumb, Downturned corners of mouth, Elbow dislocation, Split hand, Broad hallux ... ORPHA:1507
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Ventricular septal defect OMIM:615297
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Seizure, Unsteady gait, Gait ataxia, Delayed myelination OMIM:618158
Renal Dysplasia-Limb Defects Syndrome
Thin vermilion border, Hypoplasia of the radius, Short neck, Narrow mouth, Respiratory distress, ... OMIM:266910
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Pa... OMIM:604326
Castleman Disease
Ureteral obstruction, Hematuria, Anasarca, Abnormality of the gastrointestinal tract, Generalized... ORPHA:160
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Bradykinesia, Craniofacial dystonia, Seizure, Torticollis, Parkinson... ORPHA:71517
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Respiratory insufficiency, Wide nasal bridge OMIM:610127
Otopalatodigital Syndrome, Type Ii